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
SKI	6497	broad.mit.edu	37	1	2235330	2235330	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:2235330C>T	uc001aja.3	+	4	1335	c.1263C>T	c.(1261-1263)CTC>CTT	p.L421L		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	421					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		ACGTGGCCCTCGCACCGCCGG	0.692												
MMEL1	79258	broad.mit.edu	37	1	2523063	2523063	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:2523063C>T	uc001ajy.2	-	23	2387	c.2173G>A	c.(2173-2175)GGG>AGG	p.G725R	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	725	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGGTAGGACCCGCACCACACC	0.647												
PLEKHG5	57449	broad.mit.edu	37	1	6533171	6533171	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:6533171T>C	uc001ano.1	-	10	1128	c.1027A>G	c.(1027-1029)AGG>GGG	p.R343G	PLEKHG5_uc001ann.1_Missense_Mutation_p.R324G|PLEKHG5_uc001anq.1_Missense_Mutation_p.R364G|PLEKHG5_uc001anp.1_Missense_Mutation_p.R364G|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.R127G|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R356G|PLEKHG5_uc001ank.1_Missense_Mutation_p.R287G|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R287G|PLEKHG5_uc001anl.1_Missense_Mutation_p.R287G|PLEKHG5_uc001anm.1_Missense_Mutation_p.R287G	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	343					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGGGGCAGCCTGGGCAGCCCG	0.622												
TAS1R1	80835	broad.mit.edu	37	1	6636499	6636499	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:6636499C>T	uc001ant.2	+	4	1285	c.1285C>T	c.(1285-1287)CAT>TAT	p.H429Y	TAS1R1_uc001anu.2_Missense_Mutation_p.H175Y|TAS1R1_uc001anv.2_Missense_Mutation_p.H175Y|TAS1R1_uc001anw.2_Intron	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	429	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCACAAGGTGCATTTCCTTCT	0.512												
RERE	473	broad.mit.edu	37	1	8415661	8415661	+	Splice_Site	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:8415661T>G	uc001ape.2	-	23	5297	c.4487_splice	c.e23-1	p.G1496_splice	RERE_uc001apf.2_Splice_Site_p.G1496_splice|RERE_uc001apd.2_Splice_Site_p.G942_splice	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a						multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGGGGTGCCTGCCGAACACA	0.642												
SLC2A7	155184	broad.mit.edu	37	1	9067418	9067418	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:9067418G>T	uc009vmo.1	-	10	1143	c.1143C>A	c.(1141-1143)CTC>CTA	p.L381L		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	381	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGATGATGCCGAGGTAGGACA	0.607												
UBE4B	10277	broad.mit.edu	37	1	10155592	10155592	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:10155592G>A	uc001aqs.3	+	3	998	c.285G>A	c.(283-285)ACG>ACA	p.T95T	UBE4B_uc001aqr.3_Silent_p.T95T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	95					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCTTGAAACGCAATCTCAGT	0.443												
KIF1B	23095	broad.mit.edu	37	1	10384888	10384888	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:10384888C>T	uc001aqx.3	+	26	2812	c.2610C>T	c.(2608-2610)AGC>AGT	p.S870S	KIF1B_uc001aqw.3_Silent_p.S824S|KIF1B_uc001aqy.2_Silent_p.S844S|KIF1B_uc001aqz.2_Silent_p.S870S|KIF1B_uc001ara.2_Silent_p.S830S|KIF1B_uc001arb.2_Silent_p.S856S	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	870					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGACGAAAGCGAAACCACTG	0.468												
KIF1B	23095	broad.mit.edu	37	1	10399859	10399859	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:10399859C>T	uc001aqx.3	+	32	3657	c.3455C>T	c.(3454-3456)ACG>ATG	p.T1152M	KIF1B_uc001aqw.3_Missense_Mutation_p.T1106M|KIF1B_uc001aqy.2_Missense_Mutation_p.T1126M|KIF1B_uc001aqz.2_Missense_Mutation_p.T1152M|KIF1B_uc001ara.2_Missense_Mutation_p.T1112M|KIF1B_uc001arb.2_Missense_Mutation_p.T1138M	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1152					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCATTCTCCACGGAGCCCCTC	0.393												
C1orf187	374946	broad.mit.edu	37	1	11769435	11769435	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:11769435G>A	uc001asr.1	+	3	695	c.555G>A	c.(553-555)GCG>GCA	p.A185A		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	185					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCAGCCTGGCGCCCACCATGT	0.632												
C1orf89	79363	broad.mit.edu	37	1	16558758	16558758	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:16558758G>A	uc001ayd.2	-	5	984	c.562C>T	c.(562-564)CGG>TGG	p.R188W		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	hypothetical protein LOC79363	188	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding				0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GTGAGGTCCCGCTCGGGCACG	0.677												
C1QB	713	broad.mit.edu	37	1	22987798	22987798	+	Silent	SNP	C	C	T	rs146518300		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:22987798C>T	uc001bgd.2	+	3	813	c.681C>T	c.(679-681)ACC>ACT	p.T227T		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	227	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCAGGCCACCGACAAGAACT	0.567												
MYOM3	127294	broad.mit.edu	37	1	24400729	24400729	+	Silent	SNP	G	G	A	rs143604444	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:24400729G>A	uc001bin.3	-	23	3052	c.2889C>T	c.(2887-2889)CTC>CTT	p.L963L	MYOM3_uc001bim.3_Silent_p.L620L|MYOM3_uc001bio.2_Silent_p.L963L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	963										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCAAATCCTCGAGGCCGGGTT	0.587												
NR0B2	8431	broad.mit.edu	37	1	27238397	27238397	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:27238397C>T	uc001bnf.2	-	2	849	c.713G>A	c.(712-714)CGC>CAC	p.R238H		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	238					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AATGATAGGGCGAAAGAAGAG	0.612												
WASF2	10163	broad.mit.edu	37	1	27736343	27736343	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:27736343G>A	uc001bof.1	-	8	1398	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	WASF2_uc010ofl.1_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	394	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggagggggaggaggag	0.532												
RCC1	1104	broad.mit.edu	37	1	28862888	28862888	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:28862888C>T	uc001bqg.1	+	8	1017	c.932C>T	c.(931-933)TCG>TTG	p.S311L	SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.S311L|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.S311L|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.S311L|RCC1_uc001bqe.1_Missense_Mutation_p.S328L|RCC1_uc001bqf.1_Missense_Mutation_p.S342L	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	311	RCC1 5.				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGCATGGATTCGGAAGGTAGG	0.542												
IQCC	55721	broad.mit.edu	37	1	32672879	32672879	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:32672879G>A	uc001bum.2	+	5	644	c.597G>A	c.(595-597)GCG>GCA	p.A199A	IQCC_uc009vua.2_Silent_p.A279A|IQCC_uc010ogz.1_Silent_p.A99A|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	199										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCCAGAGGCGGGCCCGATCA	0.567												
EIF2C4	192670	broad.mit.edu	37	1	36288485	36288485	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:36288485C>T	uc001bzj.1	+	3	398	c.208C>T	c.(208-210)CGG>TGG	p.R70W		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	70					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACAATGGTGCGGCACTTCAA	0.423												
STK40	83931	broad.mit.edu	37	1	36809855	36809855	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:36809855G>A	uc001cak.1	-	9	1157	c.750C>T	c.(748-750)TAC>TAT	p.Y250Y	STK40_uc001cal.1_Silent_p.Y255Y|STK40_uc001cam.1_Silent_p.Y250Y|STK40_uc009vva.1_Silent_p.Y250Y|STK40_uc001can.1_Silent_p.Y250Y	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	250	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)				GCTTGCCACGGTACGGCCGGC	0.637												
DNALI1	7802	broad.mit.edu	37	1	38027698	38027698	+	Missense_Mutation	SNP	C	C	T	rs140560934	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:38027698C>T	uc001cbj.2	+	5	669	c.659C>T	c.(658-660)ACG>ATG	p.T220M	DNALI1_uc010oie.1_RNA	NM_003462	NP_003453	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	198	Potential.				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAATTGGAGACGGAAAAGAGA	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
INPP5B	3633	broad.mit.edu	37	1	38411462	38411462	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:38411462G>A	uc001ccg.1	-	3	212	c.118C>T	c.(118-120)CGC>TGC	p.R40C	INPP5B_uc009vvk.1_5'UTR|INPP5B_uc001cch.2_5'UTR	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	40					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCGGTAGCGCACGAGTCCC	0.667												
BMP8A	353500	broad.mit.edu	37	1	39988086	39988086	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:39988086G>A	uc001cdi.2	+	5	1226	c.880G>A	c.(880-882)GGC>AGC	p.G294S	PPIEL_uc001cdj.1_RNA|PPIEL_uc001cdk.2_RNA	NM_181809	NP_861525	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8A precursor	294					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGACGTCCGCGGCTCCCACGG	0.597												
CCDC17	149483	broad.mit.edu	37	1	46086576	46086576	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:46086576T>C	uc010olt.1	-	11	1746	c.1598A>G	c.(1597-1599)CAG>CGG	p.Q533R	CCDC17_uc009vxy.2_Missense_Mutation_p.Q501R|CCDC17_uc010ols.1_Missense_Mutation_p.Q524R|CCDC17_uc001com.3_Missense_Mutation_p.Q354R|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	533										ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CACACTCACCTGAGGAATCCC	0.592												
MAST2	23139	broad.mit.edu	37	1	46498028	46498028	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:46498028C>T	uc001cov.2	+	25	3649	c.3366C>T	c.(3364-3366)CGC>CGT	p.R1122R	MAST2_uc001cow.2_Silent_p.R1122R|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1122	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGGCCATTCGCGTCTACATGG	0.572												
C1orf190	541468	broad.mit.edu	37	1	46685377	46685377	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:46685377C>A	uc010oma.1	+	2	298	c.205C>A	c.(205-207)CTG>ATG	p.L69M	POMGNT1_uc001cpg.2_5'UTR|POMGNT1_uc001cpf.2_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	69					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					CCAGGCTTACCTGCGAGCCAT	0.592												
FAM151A	338094	broad.mit.edu	37	1	55075225	55075225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:55075225G>A	uc001cxn.2	-	8	1606	c.1474C>T	c.(1474-1476)CAG>TAG	p.Q492*	ACOT11_uc001cxj.1_3'UTR|ACOT11_uc001cxl.1_3'UTR|ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	492						integral to membrane					0						GTGAGCAGCTGTTCCCTGTAG	0.617												
LEPR	3953	broad.mit.edu	37	1	66102677	66102677	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:66102677G>T	uc001dci.2	+	20	3679	c.3477G>T	c.(3475-3477)AAG>AAT	p.K1159N	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1159	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGAAAACAAGATGTGTGACC	0.338												
DIRAS3	9077	broad.mit.edu	37	1	68512858	68512858	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:68512858C>A	uc001ded.2	-	2	418	c.123G>T	c.(121-123)GTG>GTT	p.V41V	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	41					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						TGCCGACTACCACGACGCGGT	0.582												
FUBP1	8880	broad.mit.edu	37	1	78414859	78414859	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:78414859T>G	uc001dii.2	-	19	1996	c.1907A>C	c.(1906-1908)CAG>CCG	p.Q636P	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.Q657P	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	636					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						TGGAGGATGCTGTGGCATTCC	0.458												
LPAR3	23566	broad.mit.edu	37	1	85331255	85331255	+	Silent	SNP	G	G	A	rs144051702	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:85331255G>A	uc001dkl.2	-	1	588	c.549C>T	c.(547-549)TAC>TAT	p.Y183Y	LPAR3_uc009wcj.1_Silent_p.Y183Y	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	183	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						AACTCCTGCTGTAAATGGGGG	0.537												
GBP6	163351	broad.mit.edu	37	1	89844152	89844152	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:89844152A>G	uc001dnf.2	+	5	879	c.605A>G	c.(604-606)AAT>AGT	p.N202S	GBP6_uc010ost.1_Missense_Mutation_p.N72S	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	202							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TACCTGGAGAATGCCTTGAAG	0.488												
LRRC8D	55144	broad.mit.edu	37	1	90399416	90399416	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:90399416T>C	uc001dnm.2	+	3	1214	c.789T>C	c.(787-789)GCT>GCC	p.A263A	LRRC8D_uc001dnn.2_Silent_p.A263A	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	263						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AATTTTCAGCTGAGAAGCCTG	0.478												
KIAA1324	57535	broad.mit.edu	37	1	109741246	109741246	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:109741246C>T	uc001dwq.2	+	19	2587	c.2451C>T	c.(2449-2451)CGC>CGT	p.R817R	KIAA1324_uc009wex.1_Silent_p.R767R|KIAA1324_uc009wey.2_Silent_p.R730R|KIAA1324_uc010ovg.1_Silent_p.R715R|KIAA1324_uc001dwr.2_Silent_p.R467R|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	817	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCACCATCCGCGTCAGGTGCA	0.532												
EPS8L3	79574	broad.mit.edu	37	1	110301862	110301862	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:110301862C>A	uc001dyr.1	-	5	548	c.403G>T	c.(403-405)GGG>TGG	p.G135W	EPS8L3_uc001dys.1_Missense_Mutation_p.G135W|EPS8L3_uc001dyq.1_Missense_Mutation_p.G135W|EPS8L3_uc009wfm.1_Missense_Mutation_p.G101W|EPS8L3_uc009wfn.1_Missense_Mutation_p.G101W|EPS8L3_uc009wfo.1_Missense_Mutation_p.G82W	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	135						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCACTCACCCCCACTTCCTGG	0.493												
AHCYL1	10768	broad.mit.edu	37	1	110551702	110551702	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:110551702C>T	uc001dyx.2	+	2	534	c.167C>T	c.(166-168)ACC>ATC	p.T56I	AHCYL1_uc010ovw.1_Missense_Mutation_p.T9I|AHCYL1_uc001dyy.2_Missense_Mutation_p.T9I|AHCYL1_uc010ovx.1_Missense_Mutation_p.T9I	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	56					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAATTCCCCACCAAAACTGGC	0.423												
KCNC4	3749	broad.mit.edu	37	1	110754325	110754325	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:110754325C>T	uc001dzh.2	+	1	261	c.204C>T	c.(202-204)CCC>CCT	p.P68P	KCNC4_uc001dzf.2_Silent_p.P68P|KCNC4_uc009wfr.2_Silent_p.P68P|KCNC4_uc001dzg.2_Silent_p.P68P|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	68	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGCCGACCCCGACGGCGGGG	0.527												
OTUD7B	56957	broad.mit.edu	37	1	149916658	149916658	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:149916658C>T	uc001etn.2	-	12	1986	c.1630G>A	c.(1630-1632)GGC>AGC	p.G544S		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	544					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTCTCAGTGCCGCTGCTTCCT	0.582												
PSMB4	5692	broad.mit.edu	37	1	151373273	151373273	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:151373273C>T	uc001eyc.1	+	4	551	c.528C>T	c.(526-528)GCC>GCT	p.A176A	PSMB4_uc010pda.1_3'UTR|PSMB4_uc001eyb.1_3'UTR	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	176					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	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGTGTAGCCTATGAAGCCC	0.323												
INTS3	65123	broad.mit.edu	37	1	153740271	153740271	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:153740271C>A	uc009wom.2	+	22	2433	c.2212C>A	c.(2212-2214)CTG>ATG	p.L738M	INTS3_uc001fct.2_Missense_Mutation_p.L738M|INTS3_uc001fcu.2_Missense_Mutation_p.L430M|INTS3_uc001fcv.2_Missense_Mutation_p.L532M|INTS3_uc010peb.1_Missense_Mutation_p.L532M|INTS3_uc001fcw.2_Missense_Mutation_p.L251M|INTS3_uc010pec.1_Missense_Mutation_p.L251M|INTS3_uc001fcy.2_Missense_Mutation_p.L35M|INTS3_uc001fcx.2_Missense_Mutation_p.L35M	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	739					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGTGCGGCTCCTGTGCCACCT	0.592												
GATAD2B	57459	broad.mit.edu	37	1	153785764	153785764	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:153785764G>A	uc001fdb.3	-	8	1625	c.1381C>T	c.(1381-1383)CTG>TTG	p.L461L		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	461	Potential.|GATA-type.|CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCATTTTTCAGCCGGTTGGTG	0.473												
ASH1L	55870	broad.mit.edu	37	1	155340428	155340428	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:155340428C>G	uc009wqq.2	-	12	7048	c.6568G>C	c.(6568-6570)GAG>CAG	p.E2190Q	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2185Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2190	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATACTGCTCAATCATCCTG	0.393												
GON4L	54856	broad.mit.edu	37	1	155735282	155735282	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:155735282C>T	uc001flz.2	-	21	4079	c.3982G>A	c.(3982-3984)GAA>AAA	p.E1328K	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.E1328K|GON4L_uc009wrh.1_Missense_Mutation_p.E1328K|GON4L_uc001fma.1_Missense_Mutation_p.E1328K|GON4L_uc001fmb.3_Missense_Mutation_p.E524K|GON4L_uc001fmc.2_Missense_Mutation_p.E1328K|GON4L_uc001fmd.3_Missense_Mutation_p.E1328K|GON4L_uc009wri.2_Missense_Mutation_p.E914K	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1328					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTTCAGGTTCCATCTTGACA	0.517												
UBQLN4	56893	broad.mit.edu	37	1	156013976	156013976	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:156013976G>A	uc001fna.2	-	6	963	c.939C>T	c.(937-939)TCC>TCT	p.S313S	UBQLN4_uc010pgx.1_Silent_p.S293S	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	313						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					ATGAGCTGTCGGAGTTCCCGG	0.627												
PRCC	5546	broad.mit.edu	37	1	156756452	156756452	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:156756452T>C	uc001fqa.2	+	3	859	c.569T>C	c.(568-570)CTG>CCG	p.L190P	PRCC_uc001fqb.2_Missense_Mutation_p.L190P	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	190					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTAAAAACCTGACTGTGAAA	0.542			T	TFE3	papillary renal 							
PEAR1	375033	broad.mit.edu	37	1	156877817	156877817	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:156877817C>T	uc001fqj.1	+	8	992	c.876C>T	c.(874-876)CGC>CGT	p.R292R	PEAR1_uc009wsl.1_Silent_p.R93R|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	292	EGF-like 3.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCAGTGCCGCTGCGCTCCGG	0.697												
SPTA1	6708	broad.mit.edu	37	1	158639341	158639341	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:158639341G>A	uc001fst.1	-	14	1889	c.1690C>T	c.(1690-1692)CGG>TGG	p.R564W		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	564	Spectrin 6.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGGGCATCCCGCCGGGCTAAC	0.488												
DUSP27	92235	broad.mit.edu	37	1	167096269	167096269	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:167096269G>A	uc001geb.1	+	5	1901	c.1901G>A	c.(1900-1902)CGG>CAG	p.R634Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	634					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GAGAGAAGCCGGCAGACGCTG	0.637												
ADCY10	55811	broad.mit.edu	37	1	167778932	167778932	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:167778932C>T	uc001ger.2	-	33	5114	c.4816G>A	c.(4816-4818)GTG>ATG	p.V1606M	ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.V1514M|ADCY10_uc010plj.1_Missense_Mutation_p.V1453M	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1606					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TGATTGTCCACGGTATTAGCT	0.388												
SLC9A11	284525	broad.mit.edu	37	1	173516835	173516835	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:173516835A>G	uc001giz.2	-	13	1973	c.1550T>C	c.(1549-1551)ATA>ACA	p.I517T	SLC9A11_uc009wwe.2_Missense_Mutation_p.I75T|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	517					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AACCATTTGTATTGCAGCTAC	0.363												
PAPPA2	60676	broad.mit.edu	37	1	176762727	176762727	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:176762727C>T	uc001gkz.2	+	20	6216	c.5052C>T	c.(5050-5052)CCC>CCT	p.P1684P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1684	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GTGTAATCCCCCCCAGTGACC	0.468												
ASTN1	460	broad.mit.edu	37	1	177133715	177133715	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:177133715A>G	uc001glc.2	-	1	310	c.98T>C	c.(97-99)CTG>CCG	p.L33P	ASTN1_uc001glb.1_Missense_Mutation_p.L33P|ASTN1_uc001gld.1_Missense_Mutation_p.L33P|ASTN1_uc009wwx.1_Missense_Mutation_p.L33P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	33					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CTTGCACTCCAGCTCCTTGGA	0.677												
ASPM	259266	broad.mit.edu	37	1	197069737	197069737	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:197069737A>G	uc001gtu.2	-	18	8901	c.8644T>C	c.(8644-8646)TAT>CAT	p.Y2882H	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Y730H	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2882	IQ 32.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GCTTTTCTATATAGTAAAAAC	0.368												
DDX59	83479	broad.mit.edu	37	1	200635327	200635327	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:200635327T>G	uc009wzk.2	-	2	785	c.542A>C	c.(541-543)CAG>CCG	p.Q181P	DDX59_uc010ppl.1_Missense_Mutation_p.Q181P	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	181						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ATTTTCAATCTGGTCTTCCTG	0.438												
PKP1	5317	broad.mit.edu	37	1	201252870	201252870	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:201252870T>C	uc001gwd.2	+	1	291	c.40T>C	c.(40-42)TGC>CGC	p.C14R	PKP1_uc001gwe.2_Missense_Mutation_p.C14R|PKP1_uc009wzm.2_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	14					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						GGCGTACGAATGCTTCCAGGA	0.642												
TMCC2	9911	broad.mit.edu	37	1	205238321	205238321	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:205238321C>T	uc001hbz.1	+	4	1435	c.991C>T	c.(991-993)CGC>TGC	p.R331C	TMCC2_uc010prf.1_Missense_Mutation_p.R253C|TMCC2_uc001hca.2_Missense_Mutation_p.R106C|TMCC2_uc001hcb.1_Missense_Mutation_p.R91C|TMCC2_uc001hcc.1_Translation_Start_Site|TMCC2_uc001hcd.2_Missense_Mutation_p.R98C	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	331						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCAGGTGTCACGCATCAAGCA	0.557												
LAMB3	3914	broad.mit.edu	37	1	209807792	209807792	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:209807792C>G	uc001hhg.2	-	5	954	c.564G>C	c.(562-564)AAG>AAC	p.K188N	LAMB3_uc009xco.2_Missense_Mutation_p.K188N|LAMB3_uc001hhh.2_Missense_Mutation_p.K188N|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	188	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCTACCTACCTTCCCCCCAT	0.602												
USH2A	7399	broad.mit.edu	37	1	215848449	215848449	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:215848449T>C	uc001hku.1	-	63	13191	c.12804A>G	c.(12802-12804)CCA>CCG	p.P4268P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4268	Fibronectin type-III 28.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		atatcacaggtggagagagac	0.348										HNSCC(13;0.011)		
LBR	3930	broad.mit.edu	37	1	225591060	225591060	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:225591060G>A	uc001hoy.2	-	14	1936	c.1793C>T	c.(1792-1794)GCT>GTT	p.A598V	LBR_uc001hoz.2_Missense_Mutation_p.A598V	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	598					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CTTTTCCCAAGCCACGCCGTA	0.433												
CABC1	56997	broad.mit.edu	37	1	227171866	227171866	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:227171866T>C	uc001hqm.1	+	16	4747	c.1328T>C	c.(1327-1329)CTG>CCG	p.L443P	CABC1_uc001hqn.1_Missense_Mutation_p.L443P|CABC1_uc009xeq.1_Missense_Mutation_p.L391P|CABC1_uc010pvq.1_Missense_Mutation_p.L164P|CABC1_uc010pvr.1_Missense_Mutation_p.L117P|CABC1_uc001hqo.1_Missense_Mutation_p.L164P|CABC1_uc009xer.1_5'UTR	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	443	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CCACATGTGCTGACCACAGAG	0.622												
GJC2	57165	broad.mit.edu	37	1	228346746	228346746	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:228346746C>T	uc001hsk.2	+	2	1462	c.1287C>T	c.(1285-1287)AGC>AGT	p.S429S		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	429	Cytoplasmic (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				GCAGTGCCAGCAGCAGGGACG	0.716												
OBSCN	84033	broad.mit.edu	37	1	228464704	228464704	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:228464704C>T	uc009xez.1	+	23	6605	c.6561C>T	c.(6559-6561)TGC>TGT	p.C2187C	OBSCN_uc001hsn.2_Silent_p.C2187C|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2187	Ig-like 22.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCCTGGAGTGCGAGCTGTCGC	0.647												
OBSCN	84033	broad.mit.edu	37	1	228560646	228560646	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:228560646G>C	uc009xez.1	+	94	22211	c.22167G>C	c.(22165-22167)TGG>TGC	p.W7389C	OBSCN_uc001hsr.1_Missense_Mutation_p.W2018C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7389					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGCGCAAGTGGTCCTCGCCGT	0.667												
PCNXL2	80003	broad.mit.edu	37	1	233120211	233120211	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:233120211G>A	uc001hvl.2	-	34	6488	c.6253C>T	c.(6253-6255)CCA>TCA	p.P2085S	PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	2085						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GGCTCACATGGCTCGGAGAGG	0.582												
KIAA1804	84451	broad.mit.edu	37	1	233514948	233514948	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:233514948G>T	uc001hvt.3	+	9	2457	c.2196G>T	c.(2194-2196)TCG>TCT	p.S732S	KIAA1804_uc001hvu.3_Silent_p.S178S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	732					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TTCTGGCATCGGTGGCTCTGG	0.522												
SLC35F3	148641	broad.mit.edu	37	1	234367306	234367306	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:234367306C>T	uc001hwa.1	+	2	448	c.220C>T	c.(220-222)CTG>TTG	p.L74L	SLC35F3_uc001hvy.1_Silent_p.L143L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	74	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGCGGTCGTGCTGTGCGTGTG	0.687												
ACTN2	88	broad.mit.edu	37	1	236925859	236925859	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:236925859G>A	uc001hyf.2	+	21	2829	c.2625G>A	c.(2623-2625)GTG>GTA	p.V875V	ACTN2_uc001hyg.2_Silent_p.V667V|ACTN2_uc009xgi.1_Silent_p.V875V|ACTN2_uc010pxu.1_Silent_p.V564V|ACTN2_uc001hyh.2_Silent_p.V563V	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	875					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGGCAGTGTGCCTGGTGCAC	0.592												
PPPDE1	51029	broad.mit.edu	37	1	244855310	244855310	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:244855310A>G	uc001iao.2	+	4	603	c.339A>G	c.(337-339)TCA>TCG	p.S113S	PPPDE1_uc001iap.2_Silent_p.S80S	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	PPPDE peptidase domain containing 1	113	PPPDE peptidase.									breast(3)	3						ATTTTTCTTCAGCTTTATCAG	0.294												
CNST	163882	broad.mit.edu	37	1	246810999	246810999	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:246810999C>T	uc001ibp.2	+	9	1874	c.1496C>T	c.(1495-1497)GCG>GTG	p.A499V	CNST_uc001ibo.3_Missense_Mutation_p.A499V	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	499					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						TCACCACAGGCGCAGGCTGAC	0.478												
TRIM58	25893	broad.mit.edu	37	1	248028188	248028188	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:248028188C>T	uc001ido.2	+	3	746	c.698C>T	c.(697-699)GCG>GTG	p.A233V		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	233	Potential.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGAGCTGGCGGATGAGCTG	0.672												
OR2T33	391195	broad.mit.edu	37	1	248436842	248436842	+	Missense_Mutation	SNP	C	C	T	rs151096305	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:248436842C>T	uc010pzi.1	-	1	275	c.275G>A	c.(274-276)CGC>CAC	p.R92H		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACAGCCAGCGCGGGAGATGGC	0.572												
TUBB8	347688	broad.mit.edu	37	10	93397	93397	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:93397G>A	uc001ifi.2	-	4	935	c.935C>T	c.(934-936)ACG>ATG	p.T312M	TUBB8_uc009xhe.2_Missense_Mutation_p.T275M|TUBB8_uc010pzs.1_Missense_Mutation_p.T240M	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	312					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGCAGCCGCCGTTAGGTAGCG	0.537												
KLF6	1316	broad.mit.edu	37	10	3824017	3824017	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:3824017G>A	uc001iha.2	-	2	759	c.492C>T	c.(490-492)TGC>TGT	p.C164C	KLF6_uc010qaj.1_Silent_p.C164C|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Silent_p.C164C|KLF6_uc001ihb.2_Silent_p.C164C	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	164					B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		CCCCGGGCACGCAACCCCACA	0.627											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C10orf18	54906	broad.mit.edu	37	10	5769037	5769037	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:5769037G>A	uc001iij.2	+	10	1063	c.438G>A	c.(436-438)AAG>AAA	p.K146K		NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	146										ovary(1)|central_nervous_system(1)	2						TTGGAGGCAAGCAGATGGGTC	0.284												
PRPF18	8559	broad.mit.edu	37	10	13639491	13639491	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:13639491G>A	uc001imp.2	+	2	248	c.100G>A	c.(100-102)GCC>ACC	p.A34T	PRPF18_uc001imq.2_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	PRP18 pre-mRNA processing factor 18 homolog	34					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)	1						TAGTGAGCTCGCCAAAAAAGA	0.289												
FAM107B	83641	broad.mit.edu	37	10	14816397	14816397	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:14816397G>A	uc001ina.1	-	1	500	c.266C>T	c.(265-267)GCG>GTG	p.A89V	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						ATTCCGATTCGCACTGCCATT	0.602												
TRDMT1	1787	broad.mit.edu	37	10	17201173	17201173	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:17201173T>C	uc001iop.2	-	7	563	c.515A>G	c.(514-516)GAG>GGG	p.E172G	TRDMT1_uc001ioq.2_Missense_Mutation_p.E148G|TRDMT1_uc001ior.2_Missense_Mutation_p.E126G|TRDMT1_uc001ios.2_Missense_Mutation_p.E101G|TRDMT1_uc009xjt.2_Missense_Mutation_p.E91G|TRDMT1_uc010qcc.1_Missense_Mutation_p.E101G|TRDMT1_uc010qcd.1_Intron|TRDMT1_uc009xjs.1_Missense_Mutation_p.E89G|TRDMT1_uc009xju.1_RNA	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	172					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1						GGGTAATGGCTCTGACTGAAG	0.308												
ENKUR	219670	broad.mit.edu	37	10	25273749	25273749	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:25273749T>C	uc001isg.1	-	5	845	c.680A>G	c.(679-681)AAG>AGG	p.K227R	ENKUR_uc001ish.1_Missense_Mutation_p.K165R	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	227						cilium|flagellum	calmodulin binding|SH3 domain binding				0						CAGCCTCTGCTTGCGGATCTT	0.388												
ARMC4	55130	broad.mit.edu	37	10	28233746	28233746	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:28233746T>C	uc009xky.2	-	11	1630	c.1532A>G	c.(1531-1533)AAG>AGG	p.K511R	ARMC4_uc010qds.1_Missense_Mutation_p.K36R|ARMC4_uc010qdt.1_Missense_Mutation_p.K203R|ARMC4_uc001itz.2_Missense_Mutation_p.K511R|ARMC4_uc010qdu.1_Missense_Mutation_p.K203R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	511	ARM 1.						binding			ovary(4)|skin(2)	6						GCCACTCACCTTACATTTGAC	0.493												
LYZL1	84569	broad.mit.edu	37	10	29599965	29599965	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:29599965A>G	uc001iul.2	+	5	619	c.562A>G	c.(562-564)AAA>GAA	p.K188E		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	142					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Breast(68;0.203)				GTCCGAGTGGAAAAAAGGCTG	0.512												
SVIL	6840	broad.mit.edu	37	10	29747513	29747513	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:29747513C>T	uc001iut.1	-	37	7161	c.6408G>A	c.(6406-6408)ACG>ACA	p.T2136T	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.T1050T|SVIL_uc001iuu.1_Silent_p.T1710T	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2136					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGGAAACTTCCGTGTCCTAGA	0.542												
SVIL	6840	broad.mit.edu	37	10	29813557	29813557	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:29813557G>A	uc001iut.1	-	14	3183	c.2430C>T	c.(2428-2430)TCC>TCT	p.S810S	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.S384S	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	810					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TTAGAGTGGAGGAATCAGGTT	0.468												
ZEB1	6935	broad.mit.edu	37	10	31809766	31809766	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:31809766C>T	uc001ivs.3	+	7	1566	c.1503C>T	c.(1501-1503)AAC>AAT	p.N501N	ZEB1_uc001ivr.3_Silent_p.N283N|ZEB1_uc010qee.1_Silent_p.N283N|ZEB1_uc010qef.1_Silent_p.N283N|ZEB1_uc009xlj.1_Silent_p.N427N|ZEB1_uc010qeg.1_Silent_p.N360N|ZEB1_uc009xlk.1_Silent_p.N283N|ZEB1_uc001ivt.3_Silent_p.N283N|ZEB1_uc001ivu.3_Silent_p.N502N|ZEB1_uc001ivv.3_Silent_p.N481N|ZEB1_uc010qeh.1_Silent_p.N434N|ZEB1_uc009xlo.1_Silent_p.N484N|ZEB1_uc009xlp.2_Silent_p.N485N	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	501					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				TCGCTACAAACAGTTGTAAAA	0.378												
ZEB1	6935	broad.mit.edu	37	10	31815922	31815922	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:31815922C>T	uc001ivs.3	+	9	3168	c.3105C>T	c.(3103-3105)GAC>GAT	p.D1035D	ZEB1_uc001ivr.3_Silent_p.D817D|ZEB1_uc010qee.1_Silent_p.D817D|ZEB1_uc010qef.1_Silent_p.D817D|ZEB1_uc001ivt.3_Silent_p.D817D|ZEB1_uc001ivu.3_Silent_p.D1036D|ZEB1_uc001ivv.3_Silent_p.D1015D|ZEB1_uc010qeh.1_Silent_p.D968D|ZEB1_uc009xlp.2_Silent_p.D1019D	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1035	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				AGGATGAAGACAGTgaaaaag	0.299												
PARD3	56288	broad.mit.edu	37	10	34626308	34626308	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:34626308C>A	uc010qej.1	-	17	2464	c.2464G>T	c.(2464-2466)GGA>TGA	p.G822*	PARD3_uc010qek.1_Nonsense_Mutation_p.G819*|PARD3_uc010qel.1_Nonsense_Mutation_p.G822*|PARD3_uc010qem.1_Nonsense_Mutation_p.G806*|PARD3_uc010qen.1_Nonsense_Mutation_p.G806*|PARD3_uc010qeo.1_Nonsense_Mutation_p.G806*|PARD3_uc010qep.1_Nonsense_Mutation_p.G762*|PARD3_uc010qeq.1_Nonsense_Mutation_p.G762*|PARD3_uc001ixo.1_Nonsense_Mutation_p.G536*|PARD3_uc001ixp.1_Nonsense_Mutation_p.G684*|PARD3_uc001ixq.1_Nonsense_Mutation_p.G806*|PARD3_uc001ixr.1_Nonsense_Mutation_p.G819*|PARD3_uc001ixt.1_Nonsense_Mutation_p.G640*|PARD3_uc001ixu.1_Nonsense_Mutation_p.G765*|PARD3_uc001ixs.1_Nonsense_Mutation_p.G475*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	822	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				CGTCCAAATCCTTCTCGTTGA	0.343												
GDF10	2662	broad.mit.edu	37	10	48438501	48438501	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:48438501G>A	uc001jfb.2	-	1	666	c.210C>T	c.(208-210)AGC>AGT	p.S70S	GDF10_uc009xnp.2_Silent_p.S70S|GDF10_uc009xnq.1_Silent_p.S70S	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	70					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						TGTCCTGGGCGCTGGGGCCCA	0.741												
AGAP7	653268	broad.mit.edu	37	10	51465445	51465445	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:51465445G>A	uc001jio.2	-	7	1137	c.1011C>T	c.(1009-1011)AGC>AGT	p.S337S	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	337	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						ATAGGCCATCGCTTTTAGAGC	0.542												
SGMS1	259230	broad.mit.edu	37	10	52067830	52067830	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:52067830G>A	uc001jje.2	-	10	1928	c.974C>T	c.(973-975)GCG>GTG	p.A325V	SGMS1_uc010qhk.1_Missense_Mutation_p.A156V	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	331	Cytoplasmic (Potential).				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			ovary(1)|kidney(1)	2						GTGGTCATGCGCTAAGAGAAT	0.502												
ZNF365	22891	broad.mit.edu	37	10	64159485	64159485	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:64159485C>T	uc001jly.3	+	5	1268	c.1206C>T	c.(1204-1206)CGC>CGT	p.R402R	ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Silent_p.R387R|ZNF365_uc001jma.3_RNA	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform A	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTTTGGCCGCAAAGGCAACA	0.537												
AIFM2	84883	broad.mit.edu	37	10	71874701	71874701	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:71874701C>T	uc010qjg.1	-	7	958	c.945G>A	c.(943-945)CAG>CAA	p.Q315Q	AIFM2_uc001jqp.1_Silent_p.Q315Q	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	315					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						GGAGAGGCCGCTGCTTCACAG	0.562												
DNAJB12	54788	broad.mit.edu	37	10	74114697	74114697	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:74114697G>T	uc010qjv.1	-	1	211	c.61C>A	c.(61-63)CGC>AGC	p.R21S	DNAJB12_uc001jsz.2_Missense_Mutation_p.R21S|DNAJB12_uc001jta.2_Missense_Mutation_p.R21S	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	Error:Variant_position_missing_in_Q9NXW2_after_alignment					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						GAGGCCGGGCGAGCGAAGGGC	0.672												
AGAP11	119385	broad.mit.edu	37	10	88769420	88769420	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:88769420C>T	uc001kee.2	+	12	2615	c.1411C>T	c.(1411-1413)CTG>TTG	p.L471L	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	471					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CATCCTGCTGCTGGCACATGG	0.662												
HTR7	3363	broad.mit.edu	37	10	92617113	92617113	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:92617113C>T	uc001kha.2	-	1	559	c.316G>A	c.(316-318)GTG>ATG	p.V106M	HTR7_uc001kgz.2_Missense_Mutation_p.V106M|HTR7_uc001khb.2_Missense_Mutation_p.V106M	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	106	Cytoplasmic (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	ACGAAGCACACGGAGATCACC	0.607												
ZDHHC16	84287	broad.mit.edu	37	10	99211554	99211554	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:99211554A>T	uc001knj.2	+	3	471	c.122A>T	c.(121-123)TAC>TTC	p.Y41F	ZDHHC16_uc001knp.2_Missense_Mutation_p.Y41F|ZDHHC16_uc001knk.2_Missense_Mutation_p.Y41F|ZDHHC16_uc001knl.2_Missense_Mutation_p.Y41F|ZDHHC16_uc001knm.2_Missense_Mutation_p.Y41F|ZDHHC16_uc001knn.2_Missense_Mutation_p.Y41F|ZDHHC16_uc010qow.1_Missense_Mutation_p.Y41F|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Missense_Mutation_p.Y41F|ZDHHC16_uc009xvr.2_Missense_Mutation_p.Y41F	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1	41	Cytoplasmic (Potential).				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CGCTGGCGCTACGGCAAGGTC	0.642												
SEC31B	25956	broad.mit.edu	37	10	102265915	102265915	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:102265915A>G	uc001krc.1	-	9	1028	c.926T>C	c.(925-927)GTG>GCG	p.V309A	SEC31B_uc010qpo.1_Missense_Mutation_p.V308A|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.V312A|SEC31B_uc009xwn.1_Missense_Mutation_p.V309A|SEC31B_uc009xwo.1_Missense_Mutation_p.V309A|SEC31B_uc010qpq.1_Missense_Mutation_p.V152A	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	309	WD 6.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCACCACTGCACATCAAAGCA	0.512												
DPCD	25911	broad.mit.edu	37	10	103360978	103360978	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:103360978G>A	uc001ktn.2	+	4	294	c.289G>A	c.(289-291)GAC>AAC	p.D97N	hsa-mir-3158-1|MI0014186_5'Flank	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	97							protein binding			skin(1)	1						CATGCGCAAGGACACCAAGAT	0.547												
FBXL15	79176	broad.mit.edu	37	10	104181683	104181683	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:104181683T>C	uc001kvk.2	+	3	1663	c.347T>C	c.(346-348)CTG>CCG	p.L116P	PSD_uc001kvg.1_5'Flank|PSD_uc001kvh.1_5'Flank|PSD_uc009xxd.1_5'Flank|PSD_uc001kvi.1_5'Flank|FBXL15_uc001kvj.1_Missense_Mutation_p.L116P|FBXL15_uc001kvl.1_Missense_Mutation_p.L203P	NM_024326	NP_077302	Q9H469	FXL15_HUMAN	F-box and leucine-rich repeat protein 15	116	Interaction with SMURF1.				bone mineralization|dorsal/ventral pattern formation|G2/M transition of mitotic cell cycle|positive regulation of BMP signaling pathway|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding			kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		AATCCGCAGCTGCGGAGTGTG	0.721												
TAF5	6877	broad.mit.edu	37	10	105138238	105138238	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:105138238T>C	uc001kwv.2	+	3	1067	c.1044T>C	c.(1042-1044)AGT>AGC	p.S348S	TAF5_uc010qqq.1_Silent_p.S348S	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	348					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGCCGCGTAGTAAGCAACAGA	0.433												
C10orf79	80217	broad.mit.edu	37	10	105953694	105953694	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:105953694C>T	uc001kxw.2	-	11	1488	c.1372G>A	c.(1372-1374)GTA>ATA	p.V458I	C10orf79_uc001kxx.3_Missense_Mutation_p.V459I|C10orf79_uc001kxy.1_Missense_Mutation_p.V459I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	458	WD 7.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTATCATATACGCTGATGAAG	0.552												
SORCS1	114815	broad.mit.edu	37	10	108923879	108923879	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:108923879C>A	uc001kym.2	-	1	414	c.406G>T	c.(406-408)GGG>TGG	p.G136W	SORCS1_uc001kyl.2_Missense_Mutation_p.G136W|SORCS1_uc009xxs.2_Missense_Mutation_p.G136W|SORCS1_uc001kyn.1_Missense_Mutation_p.G136W|SORCS1_uc001kyo.2_Missense_Mutation_p.G136W	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	136	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTGCTGCCCTCCATCTCTT	0.687												
FAM160B1	57700	broad.mit.edu	37	10	116603660	116603660	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:116603660C>T	uc001lcb.2	+	7	1312	c.977C>T	c.(976-978)CCG>CTG	p.P326L	FAM160B1_uc001lcc.2_Missense_Mutation_p.P326L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	326										lung(1)	1						TCAGTGGATCCGTTAGATATT	0.458												
HSPA12A	259217	broad.mit.edu	37	10	118440716	118440716	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:118440716A>C	uc001lct.2	-	9	1079	c.974T>G	c.(973-975)GTC>GGC	p.V325G	HSPA12A_uc001lcu.2_Missense_Mutation_p.V242G	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	325							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GATCTGATGGACTGTCAGGTC	0.502												
CPXM2	119587	broad.mit.edu	37	10	125506321	125506321	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:125506321G>A	uc001lhk.1	-	14	2555	c.2230C>T	c.(2230-2232)CGG>TGG	p.R744W	CPXM2_uc001lhj.2_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	744					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R744Q(1)		ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGCTTCAGCCGCCTGGCTGGC	0.577												
PTPRE	5791	broad.mit.edu	37	10	129847931	129847931	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:129847931G>A	uc001lkb.2	+	6	699	c.420_splice	c.e6+1	p.N140_splice	PTPRE_uc009yat.2_Splice_Site_p.N151_splice|PTPRE_uc010qup.1_Splice_Site|PTPRE_uc009yau.2_Splice_Site_p.N140_splice|PTPRE_uc001lkc.1_Splice_Site|PTPRE_uc001lkd.2_Splice_Site_p.N82_splice|PTPRE_uc010quq.1_Splice_Site_p.N41_splice	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E						negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGAGTTCAACGTGAGTGTGGG	0.547												
BET1L	51272	broad.mit.edu	37	11	205421	205421	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:205421G>A	uc001loe.2	-	4	318	c.217C>T	c.(217-219)CGC>TGC	p.R73C	BET1L_uc001lod.2_3'UTR	NM_001098787	NP_001092257	Q9NYM9	BET1L_HUMAN	blocked early in transport 1 homolog (S.	73	Cytoplasmic (Potential).|t-SNARE coiled-coil homology.				protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity				0		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTGGAAAAGCGCTTCACGCTC	0.517												
NLRP6	171389	broad.mit.edu	37	11	281297	281297	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:281297C>T	uc010qvs.1	+	4	1563	c.1563C>T	c.(1561-1563)ACC>ACT	p.T521T	NLRP6_uc010qvt.1_Silent_p.T521T	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	521						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGCCCAGGACCGCGGCTGGCG	0.672												
C11orf35	256329	broad.mit.edu	37	11	555902	555902	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:555902C>T	uc001lpx.2	-	12	1469	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	uc001lpy.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	469										pancreas(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGAGTCTCGCGGCGTGGGAT	0.771												
DEAF1	10522	broad.mit.edu	37	11	687963	687963	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:687963G>A	uc001lqq.1	-	4	1305	c.612C>T	c.(610-612)CCC>CCT	p.P204P	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	204	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGCACCGTACGGGCAGCTCAC	0.552												
MUC5B	727897	broad.mit.edu	37	11	1262736	1262736	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1262736G>A	uc009ycr.1	+	47	6831	c.6705G>A	c.(6703-6705)CAG>CAA	p.Q2235Q	MUC5B_uc001ltb.2_Silent_p.Q1545Q	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1542	7 X Cys-rich subdomain repeats.|Cys-rich subdomain 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTTATGCCAGCAGCCTAAGG	0.582												
MUC5B	727897	broad.mit.edu	37	11	1271141	1271141	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1271141C>A	uc009ycr.1	+	51	14576	c.14450C>A	c.(14449-14451)CCC>CAC	p.P4817H	MUC5B_uc001ltb.2_Missense_Mutation_p.P4347H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4344	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACCACACCCGTGGCCACC	0.627												
TNNI2	7136	broad.mit.edu	37	11	1862085	1862085	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1862085G>A	uc010qxe.1	+	4	245	c.223G>A	c.(223-225)GCT>ACT	p.A75T	TNNI2_uc010qxc.1_Missense_Mutation_p.A73T|TNNI2_uc010qxd.1_Missense_Mutation_p.A73T	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	75					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATCGATGCGGCTGAAGAGGA	0.527												
TRIM6	117854	broad.mit.edu	37	11	5632278	5632278	+	Silent	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:5632278T>G	uc001mbc.1	+	8	1305	c.1173T>G	c.(1171-1173)GCT>GCG	p.A391A	HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Silent_p.A365A|TRIM6_uc010qzj.1_Silent_p.A216A|TRIM6_uc001mbe.2_Silent_p.A216A|TRIM6_uc010qzk.1_Silent_p.A216A|TRIM6_uc010qzl.1_Silent_p.A216A|TRIM6_uc001mbd.2_Silent_p.A419A|TRIM6_uc001mbg.1_Silent_p.A216A|TRIM6_uc009yep.1_3'UTR	NM_058166	NP_477514	Q9C030	TRIM6_HUMAN	tripartite motif-containing 6 isoform 2	391	B30.2/SPRY.				protein trimerization	cytoplasm	zinc ion binding				0		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCACAGTGCTTACTCCAGGT	0.478												
EIF4G2	1982	broad.mit.edu	37	11	10823308	10823308	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:10823308A>T	uc001mjc.2	-	14	1730	c.1313T>A	c.(1312-1314)CTC>CAC	p.L438H	EIF4G2_uc001mjb.2_Missense_Mutation_p.L232H|EIF4G2_uc009ygf.2_Missense_Mutation_p.L232H|EIF4G2_uc001mjd.2_Intron|EIF4G2_uc001mjf.1_Intron|SNORD97_uc009yge.2_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	438					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTATGGTAGAGCTGGCTTAG	0.448												
ABCC8	6833	broad.mit.edu	37	11	17498278	17498278	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:17498278G>A	uc001mnc.2	-	1	172	c.46C>T	c.(46-48)CGG>TGG	p.R16W	ABCC8_uc010rcy.1_Missense_Mutation_p.R16W	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	16	Extracellular (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTCCACCCGGTAGGCGGCC	0.687												
PTPN5	84867	broad.mit.edu	37	11	18763931	18763931	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:18763931G>A	uc001mpd.2	-	7	1034	c.603C>T	c.(601-603)ATC>ATT	p.I201I	PTPN5_uc001mpb.2_Silent_p.I169I|PTPN5_uc001mpc.2_Silent_p.I201I|PTPN5_uc001mpe.2_Silent_p.I169I|PTPN5_uc010rdj.1_Silent_p.I145I|PTPN5_uc001mpf.2_Silent_p.I177I|PTPN5_uc010rdk.1_Silent_p.I146I	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	201						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						AGTCATCCTCGATCTTCTCCT	0.617												
CD44	960	broad.mit.edu	37	11	35219723	35219723	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:35219723T>C	uc001mvu.2	+	7	1286	c.852T>C	c.(850-852)GAT>GAC	p.D284D	CD44_uc001mvv.2_Silent_p.D241D|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_5'UTR	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	284	Extracellular (Potential).|Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AAAATGAAGATGAAAGAGACA	0.428												
KIAA0652	9776	broad.mit.edu	37	11	46691079	46691079	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:46691079C>G	uc009yld.2	+	17	2157	c.1473C>G	c.(1471-1473)GAC>GAG	p.D491E	KIAA0652_uc001nda.2_Missense_Mutation_p.D524E|KIAA0652_uc001ndb.2_Missense_Mutation_p.D491E|KIAA0652_uc001ncz.2_Missense_Mutation_p.D454E|KIAA0652_uc001ndc.2_Missense_Mutation_p.D454E|KIAA0652_uc010rgv.1_Missense_Mutation_p.D375E	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	491					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		TGGCTGAAGACTTGGTATGGA	0.502												
LRP4	4038	broad.mit.edu	37	11	46894694	46894694	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:46894694G>A	uc001ndn.3	-	30	4686	c.4540C>T	c.(4540-4542)CTG>TTG	p.L1514L	uc001ndl.2_RNA	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1514	Extracellular (Potential).|LDL-receptor class B 18.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GGCCAACCCAGGTCTGTGTTG	0.552												
LRP4	4038	broad.mit.edu	37	11	46905424	46905424	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:46905424G>A	uc001ndn.3	-	19	2756	c.2610C>T	c.(2608-2610)GGC>GGT	p.G870G		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	870	Extracellular (Potential).|LDL-receptor class B 7.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CCACTCACCCGCCCATGGGTT	0.537												
OR8H3	390152	broad.mit.edu	37	11	55890155	55890155	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:55890155T>C	uc001nii.1	+	1	307	c.307T>C	c.(307-309)TGT>CGT	p.C103R		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CCAGATGTTCTGTTTTGTCTT	0.433												
OR5R1	219479	broad.mit.edu	37	11	56185040	56185040	+	Silent	SNP	G	G	T	rs146417436		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:56185040G>T	uc010rji.1	-	1	669	c.669C>A	c.(667-669)GCC>GCA	p.A223A		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TTAGGATAGCGGCAATAATAA	0.448												
DTX4	23220	broad.mit.edu	37	11	58949400	58949400	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:58949400G>A	uc001nns.2	+	2	657	c.400G>A	c.(400-402)GTA>ATA	p.V134I	DTX4_uc001nnr.2_Missense_Mutation_p.V28I	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	134	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CTTTAGCTACGTAATTGACTT	0.592												
DTX4	23220	broad.mit.edu	37	11	58949530	58949530	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:58949530G>A	uc001nns.2	+	2	787	c.530G>A	c.(529-531)AGC>AAC	p.S177N	DTX4_uc001nnr.2_Missense_Mutation_p.S71N	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	177					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				TGGCCAGTCAGCCCTGGGCCA	0.657												
TMEM132A	54972	broad.mit.edu	37	11	60699530	60699530	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:60699530C>T	uc001nqj.2	+	7	1480	c.1287C>T	c.(1285-1287)GAC>GAT	p.D429D	TMEM132A_uc001nqi.2_Silent_p.D430D|TMEM132A_uc001nqk.2_Silent_p.D442D|TMEM132A_uc001nql.1_3'UTR|TMEM132A_uc001nqm.2_5'Flank	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	429	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						TCACTGTGGACGGCGGGGGGG	0.652												
SYT7	9066	broad.mit.edu	37	11	61318905	61318905	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:61318905C>T	uc001nrv.2	-	3	172	c.166G>A	c.(166-168)GTG>ATG	p.V56M	SYT7_uc009ynr.2_Missense_Mutation_p.V56M|SYT7_uc001nrx.1_RNA	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	56	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						GGCGTGCCCACCGTCTCCAAG	0.587												
C11orf84	144097	broad.mit.edu	37	11	63585422	63585422	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:63585422C>T	uc001nxt.2	+	2	509	c.273C>T	c.(271-273)TGC>TGT	p.C91C		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	91											0						GGGCACTGTGCATGGTGTGTG	0.652												
TRPT1	83707	broad.mit.edu	37	11	63992188	63992188	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:63992188A>G	uc001nyo.2	-	5	543	c.329T>C	c.(328-330)GTA>GCA	p.V110A	TRPT1_uc010rnc.1_Missense_Mutation_p.V110A|TRPT1_uc010rnd.1_Missense_Mutation_p.V112A|TRPT1_uc001nyn.2_Missense_Mutation_p.V61A|TRPT1_uc010rne.1_Missense_Mutation_p.V110A|TRPT1_uc010rnf.1_Missense_Mutation_p.V110A|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank|NUDT22_uc010rng.1_5'Flank	NM_001033678	NP_001028850	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1 isoform 1	110							tRNA 2'-phosphotransferase activity				0						CAACTTAGGTACCTGGTTGAA	0.612												
NRXN2	9379	broad.mit.edu	37	11	64390507	64390507	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64390507G>A	uc001oap.2	-	6	1264	c.753C>T	c.(751-753)ATC>ATT	p.I251I	NRXN2_uc001oar.2_Silent_p.I1297I|NRXN2_uc001oas.2_Silent_p.I1227I|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Silent_p.I964I	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	251	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCCGGCCCCCGATCTTGATGG	0.498												
MAP4K2	5871	broad.mit.edu	37	11	64569590	64569590	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64569590G>A	uc001obh.2	-	5	406	c.314C>T	c.(313-315)ACT>ATT	p.T105I	MAP4K2_uc001obi.2_Missense_Mutation_p.T105I|MAP4K2_uc010rnp.1_3'UTR	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	105	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						CAGGGGCCCAGTGGCTGAAAG	0.627											OREG0004013	type=REGULATORY REGION|Gene=AF161342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
NAALADL1	10004	broad.mit.edu	37	11	64815659	64815659	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64815659G>A	uc001ocn.2	-	10	1329	c.1313C>T	c.(1312-1314)ACG>ATG	p.T438M	NAALADL1_uc010rnw.1_Translation_Start_Site|NAALADL1_uc009ypz.2_RNA	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	438	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						GTAGGCCACCGTGCGCTCCTG	0.627												
LTBP3	4054	broad.mit.edu	37	11	65325120	65325120	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:65325120G>A	uc001oej.2	-	1	580	c.311C>T	c.(310-312)ACG>ATG	p.T104M	LTBP3_uc010roi.1_Translation_Start_Site|LTBP3_uc001oei.2_Missense_Mutation_p.T104M|LTBP3_uc010roj.1_Missense_Mutation_p.T90M|LTBP3_uc010rok.1_Missense_Mutation_p.T15M	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	104	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GCCGGAGCCCGTGAGCGTGTC	0.672												
RELA	5970	broad.mit.edu	37	11	65426295	65426295	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:65426295T>C	uc001ofg.2	-	7	700	c.560_splice	c.e7-1	p.R187_splice	RELA_uc001ofh.2_Splice_Site_p.R184_splice|RELA_uc010ron.1_Splice_Site_p.R198_splice|RELA_uc009yqr.2_Splice_Site_p.R134_splice|RELA_uc001ofe.2_Splice_Site_p.R187_splice|RELA_uc001off.2_Splice_Site_p.R187_splice|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene						anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						TGGGGGCACCTGAGGCAGTGA	0.597												
PITPNM1	9600	broad.mit.edu	37	11	67261407	67261407	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:67261407C>T	uc001olx.2	-	19	3183	c.2994G>A	c.(2992-2994)GTG>GTA	p.V998V	PITPNM1_uc001olw.2_Silent_p.V280V|PITPNM1_uc001oly.2_Silent_p.V998V|PITPNM1_uc001olz.2_Silent_p.V997V	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	998					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CCACCATGCGCACGGGGTAGA	0.537												
ALDH3B1	221	broad.mit.edu	37	11	67786680	67786680	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:67786680G>A	uc010rpy.1	+	6	552	c.436G>A	c.(436-438)GTC>ATC	p.V146I	ALDH3B1_uc001omz.2_Missense_Mutation_p.V146I|ALDH3B1_uc001ona.2_Missense_Mutation_p.V109I|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	146					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	TAGCAAGAACGTCGAGAAGAT	0.607												
P2RY6	5031	broad.mit.edu	37	11	73007933	73007933	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:73007933C>T	uc001otm.2	+	4	775	c.370C>T	c.(370-372)CGC>TGC	p.R124C	P2RY6_uc001otn.2_Missense_Mutation_p.R124C|P2RY6_uc001oto.2_Missense_Mutation_p.R124C|P2RY6_uc001otp.2_Missense_Mutation_p.R124C|P2RY6_uc001otq.2_Missense_Mutation_p.R124C|P2RY6_uc001otr.2_Missense_Mutation_p.R124C|P2RY6_uc001ots.2_Missense_Mutation_p.R124C	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	124	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						CAGCTTCCAGCGCTACCTGGG	0.657												
CHRDL2	25884	broad.mit.edu	37	11	74424463	74424463	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:74424463G>A	uc001ovi.2	-	3	510	c.257C>T	c.(256-258)ACG>ATG	p.T86M	CHRDL2_uc001ovg.2_Intron|CHRDL2_uc001ovh.2_Missense_Mutation_p.T86M|CHRDL2_uc001ovk.1_Missense_Mutation_p.T86M			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	86	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					CTGTGGCTCCGTCACAGGCTG	0.597												
ODZ4	26011	broad.mit.edu	37	11	78449536	78449536	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:78449536T>C	uc001ozl.3	-	20	3299	c.2836A>G	c.(2836-2838)AAC>GAC	p.N946D		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	946	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AAGAGAGGGTTATTGACAAAA	0.478												
FAT3	120114	broad.mit.edu	37	11	92086841	92086841	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:92086841T>C	uc001pdj.3	+	1	1580	c.1563T>C	c.(1561-1563)ATT>ATC	p.I521I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	521	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTTGTCATTAATCAGTTTA	0.393										TCGA Ovarian(4;0.039)		
CCDC82	79780	broad.mit.edu	37	11	96117891	96117891	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:96117891A>G	uc009ywp.2	-	1	264	c.21T>C	c.(19-21)CAT>CAC	p.H7H	CCDC82_uc009ywq.2_Silent_p.H7H|CCDC82_uc001pfx.3_Silent_p.H7H|CCDC82_uc009ywr.2_Silent_p.H7H|CCDC82_uc009yws.2_Silent_p.H7H	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	7							protein binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCCTTGTTTCATGTCTTCTAA	0.299												
CNTN5	53942	broad.mit.edu	37	11	99827598	99827598	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:99827598G>A	uc001pga.2	+	8	1073	c.734G>A	c.(733-735)CGG>CAG	p.R245Q	CNTN5_uc009ywv.1_Missense_Mutation_p.R245Q|CNTN5_uc001pfz.2_Missense_Mutation_p.R245Q|CNTN5_uc001pgb.2_Missense_Mutation_p.R171Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	245	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GACAGCCGGCGGTTCATCTCC	0.413												
MMP10	4319	broad.mit.edu	37	11	102650093	102650093	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:102650093C>A	uc001phg.1	-	3	370	c.348_splice	c.e3-1	p.R116_splice		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		ATTCACAATCCTGGAGGAGAA	0.368												
ZC3H12C	85463	broad.mit.edu	37	11	110036198	110036198	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:110036198C>T	uc009yxw.2	+	6	2439	c.2388C>T	c.(2386-2388)CCC>CCT	p.P796P	ZC3H12C_uc010rwc.1_Silent_p.P797P|ZC3H12C_uc010rwd.1_Silent_p.P797P|ZC3H12C_uc001pkr.3_Silent_p.P765P	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	796							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ATTCCTTGCCCGATAACTCCA	0.577												
NNMT	4837	broad.mit.edu	37	11	114182908	114182908	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:114182908C>T	uc001por.1	+	5	768	c.504C>T	c.(502-504)GCC>GCT	p.A168A	NNMT_uc001pos.1_Silent_p.A168A	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	168					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GTCTGGATGCCGCCTGCCCAG	0.632												
SIDT2	51092	broad.mit.edu	37	11	117052201	117052201	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:117052201C>T	uc001pqh.1	+	2	294	c.253C>T	c.(253-255)CGC>TGC	p.R85C	SIDT2_uc010rxe.1_Missense_Mutation_p.R85C|SIDT2_uc001pqg.2_Missense_Mutation_p.R85C|SIDT2_uc001pqi.1_Missense_Mutation_p.R85C	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	85	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GTTTGTGGTCCGCCAGAAGGA	0.602											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMPRSS4	56649	broad.mit.edu	37	11	117973950	117973950	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:117973950G>A	uc010rxo.1	+	4	583	c.292G>A	c.(292-294)GAA>AAA	p.E98K	TMPRSS4_uc010rxp.1_Missense_Mutation_p.E98K|TMPRSS4_uc010rxq.1_5'UTR|TMPRSS4_uc010rxr.1_Missense_Mutation_p.E73K|TMPRSS4_uc010rxs.1_Missense_Mutation_p.E58K|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Missense_Mutation_p.E73K	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	98	Extracellular (Potential).|SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GAGCTTCCCCGAAGGGCCTGC	0.632												
RNF26	79102	broad.mit.edu	37	11	119207069	119207069	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:119207069G>A	uc001pwh.2	+	1	1833	c.1237G>A	c.(1237-1239)GTC>ATC	p.V413I		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	413	RING-type.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCGCCACCCCGTCTACCACCG	0.632												
OR10G9	219870	broad.mit.edu	37	11	123894243	123894243	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:123894243A>G	uc010sad.1	+	1	524	c.524A>G	c.(523-525)CAC>CGC	p.H175R		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGATCCAGCACTATTTGTGT	0.557												
NFRKB	4798	broad.mit.edu	37	11	129743720	129743720	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:129743720C>T	uc001qfi.2	-	22	2671	c.2470G>A	c.(2470-2472)GCA>ACA	p.A824T	NFRKB_uc001qfg.2_Missense_Mutation_p.A849T|NFRKB_uc001qfh.2_Missense_Mutation_p.A847T|NFRKB_uc010sbw.1_Missense_Mutation_p.A834T|NFRKB_uc009zcr.2_Missense_Mutation_p.A110T	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	824					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AATGTCTGTGCCGGCCCTCCC	0.642												
APLP2	334	broad.mit.edu	37	11	129979402	129979402	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:129979402C>T	uc010sby.1	+	2	341	c.184C>T	c.(184-186)CAT>TAT	p.H62Y	APLP2_uc001qfp.2_Missense_Mutation_p.H62Y|APLP2_uc001qfq.2_Missense_Mutation_p.H62Y|APLP2_uc010sbz.1_Intron|APLP2_uc001qfr.2_Splice_Site|APLP2_uc001qfs.2_Missense_Mutation_p.H62Y|APLP2_uc001qfv.2_Missense_Mutation_p.H9Y	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	62	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GTTAAATATGCATGTGAACAT	0.443												
ADAMTS15	170689	broad.mit.edu	37	11	130319163	130319163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:130319163C>T	uc010scd.1	+	1	295	c.295C>T	c.(295-297)CGA>TGA	p.R99*		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	99					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTCAGACCTGCGACGCTGCTT	0.672												
NTM	50863	broad.mit.edu	37	11	132082036	132082036	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:132082036C>T	uc001qgp.2	+	3	1185	c.521C>T	c.(520-522)CCC>CTC	p.P174L	NTM_uc001qgm.2_Missense_Mutation_p.P174L|NTM_uc010sch.1_Missense_Mutation_p.P165L|NTM_uc010sci.1_Missense_Mutation_p.P174L|NTM_uc010scj.1_Missense_Mutation_p.P133L|NTM_uc001qgo.2_Missense_Mutation_p.P174L|NTM_uc001qgq.2_Missense_Mutation_p.P174L|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	174	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						CACATCTCTCCCAAAGGTAAG	0.443												
WNK1	65125	broad.mit.edu	37	12	993365	993365	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:993365G>T	uc001qio.3	+	18	4307	c.3800G>T	c.(3799-3801)CGA>CTA	p.R1267L	WNK1_uc001qip.3_Missense_Mutation_p.R1020L|WNK1_uc001qir.3_Missense_Mutation_p.R440L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1267					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAGAAAGCCGATTACGAGAA	0.408												
TNFRSF1A	7132	broad.mit.edu	37	12	6438696	6438696	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:6438696C>T	uc001qnu.2	-	10	1431	c.1150G>A	c.(1150-1152)GAG>AAG	p.E384K	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.E276K|TNFRSF1A_uc010sey.1_Missense_Mutation_p.E152K|TNFRSF1A_uc010sez.1_Missense_Mutation_p.E276K|TNFRSF1A_uc009zek.2_Missense_Mutation_p.E341K	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	384	Death.|Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						CGATCGATCTCGTGGTCGCTC	0.706												
LPAR5	57121	broad.mit.edu	37	12	6730002	6730002	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:6730002G>A	uc009zer.2	-	2	694	c.413C>T	c.(412-414)GCG>GTG	p.A138V	LPAR5_uc001qps.2_Missense_Mutation_p.A138V|LPAR5_uc010sff.1_Missense_Mutation_p.A138V	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	138	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2						GAGCAGCCGCGCCACGCGGGG	0.711												
USP5	8078	broad.mit.edu	37	12	6964600	6964600	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:6964600G>A	uc001qri.3	+	2	206	c.147G>A	c.(145-147)ACG>ACA	p.T49T	USP5_uc001qrh.3_Silent_p.T49T	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	49					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						GTATGAACACGTTTCTGGGCT	0.488												
LMO3	55885	broad.mit.edu	37	12	16753644	16753644	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:16753644C>A	uc001rdk.1	-	2	591	c.151G>T	c.(151-153)GGC>TGC	p.G51C	LMO3_uc001rdj.1_Missense_Mutation_p.G62C|LMO3_uc010shy.1_Missense_Mutation_p.G69C|LMO3_uc001rdl.1_Missense_Mutation_p.G51C|LMO3_uc009zii.1_RNA|LMO3_uc010shz.1_Intron|LMO3_uc001rdm.1_Missense_Mutation_p.G51C|LMO3_uc001rdo.1_Intron|LMO3_uc001rdp.1_Intron|LMO3_uc001rdn.1_Missense_Mutation_p.G51C|LMO3_uc009zij.1_RNA|LMO3_uc009zik.1_RNA	NM_018640	NP_061110	Q8TAP4	LMO3_HUMAN	LIM domain only 3	51	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding				0		Hepatocellular(102;0.244)				AGGGTGGAGCCCACCTCTCCC	0.483												
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
TMTC1	83857	broad.mit.edu	37	12	29709910	29709910	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:29709910G>A	uc001rjb.2	-	10	1706	c.1232C>T	c.(1231-1233)GCG>GTG	p.A411V	TMTC1_uc001riz.2_Missense_Mutation_p.A168V|TMTC1_uc001rja.2_Missense_Mutation_p.A255V|TMTC1_uc001rjc.1_Missense_Mutation_p.A473V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	519	TPR 2.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTGTTGAGCGCACTTGCATG	0.463												
MLL2	8085	broad.mit.edu	37	12	49420859	49420859	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:49420859G>A	uc001rta.3	-	48	14890	c.14890C>T	c.(14890-14892)CGT>TGT	p.R4964C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4964	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGCCGGGCACGGGGCTTGGGT	0.627			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
AAAS	8086	broad.mit.edu	37	12	53701365	53701365	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:53701365G>T	uc001scr.3	-	16	1712	c.1549C>A	c.(1549-1551)CTC>ATC	p.L517I	AAAS_uc001scs.3_Missense_Mutation_p.L484I	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	517					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						TCAGTAAAGAGGGGCAGGTCA	0.582												
ZBTB39	9880	broad.mit.edu	37	12	57397071	57397071	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:57397071C>T	uc001sml.1	-	2	1717	c.1631G>A	c.(1630-1632)AGC>AAC	p.S544N	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	544	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						GAAGCTCTGGCTGCACAAGCG	0.562												
GLI1	2735	broad.mit.edu	37	12	57859007	57859007	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:57859007C>A	uc001snx.2	+	5	581	c.503C>A	c.(502-504)CCT>CAT	p.P168H	GLI1_uc009zpq.2_Missense_Mutation_p.P40H	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	168					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			ATCCCACATCCTCAGTCCCGG	0.592												
AVIL	10677	broad.mit.edu	37	12	58202264	58202264	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:58202264G>A	uc001sqj.1	-	9	1036	c.1007C>T	c.(1006-1008)TCG>TTG	p.S336L	AVIL_uc009zqe.1_Missense_Mutation_p.S329L|AVIL_uc001sqk.1_5'UTR|AVIL_uc001sql.3_Missense_Mutation_p.S313L	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	336	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GAACATGGCCGACTCAGCACC	0.547												
XPOT	11260	broad.mit.edu	37	12	64808688	64808688	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:64808688C>T	uc001ssb.2	+	3	488	c.62C>T	c.(61-63)GCC>GTC	p.A21V	XPOT_uc009zqm.1_5'UTR	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	21	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		ATCTTATAGGCCCTGGCCTAT	0.358												
PTPRR	5801	broad.mit.edu	37	12	71155319	71155319	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:71155319G>A	uc001swi.1	-	4	975	c.559C>T	c.(559-561)CGT>TGT	p.R187C	PTPRR_uc010stq.1_Missense_Mutation_p.R75C	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	187	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTAAGTGAACGAAGAACTTCC	0.368												
NAV3	89795	broad.mit.edu	37	12	78571062	78571062	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:78571062G>T	uc001syp.2	+	27	5439	c.5266G>T	c.(5266-5268)GCA>TCA	p.A1756S	NAV3_uc001syo.2_Missense_Mutation_p.A1756S|NAV3_uc010sub.1_Missense_Mutation_p.A1235S|NAV3_uc009zsf.2_Missense_Mutation_p.A587S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1756						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTGTGGCTCAGCATCCATGAA	0.433										HNSCC(70;0.22)		
LUM	4060	broad.mit.edu	37	12	91502483	91502483	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:91502483G>T	uc001tbm.2	-	2	663	c.274C>A	c.(274-276)CTG>ATG	p.L92M	LUM_uc001tbn.2_Intron	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	92	LRR 2.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2						AGCCACTGCAGATCAGTTACA	0.378												
ANKS1B	56899	broad.mit.edu	37	12	99837512	99837512	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:99837512T>C	uc001tge.1	-	11	1931	c.1514A>G	c.(1513-1515)GAT>GGT	p.D505G	ANKS1B_uc001tgf.1_Missense_Mutation_p.D85G|ANKS1B_uc009ztt.1_Missense_Mutation_p.D471G	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	505						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGGTGAACAATCAGGTGTTGG	0.433												
SPIC	121599	broad.mit.edu	37	12	101873423	101873423	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:101873423A>G	uc001tid.2	+	4	320	c.161A>G	c.(160-162)TAT>TGT	p.Y54C	SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Missense_Mutation_p.Y53C	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	54						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCCAGCTGCTATGGAGTGTTG	0.373												
C12orf23	90488	broad.mit.edu	37	12	107365084	107365084	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:107365084C>G	uc001tmb.2	+	4	640	c.266C>G	c.(265-267)GCT>GGT	p.A89G	C12orf23_uc001tmc.2_Missense_Mutation_p.A89G|C12orf23_uc001tmd.2_Missense_Mutation_p.A89G	NM_152261	NP_689474	Q8WUH6	CL023_HUMAN	hypothetical protein LOC90488	89	Helical; (Potential).					integral to membrane					0						GGTGTCTCTGCTGTGGCTGGA	0.473												
FICD	11153	broad.mit.edu	37	12	108913176	108913176	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:108913176C>T	uc001tmx.1	+	3	1447	c.1301C>T	c.(1300-1302)ACT>ATT	p.T434I		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	434					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						TTTGCCACAACTGAGTACTCG	0.552												
KCTD10	83892	broad.mit.edu	37	12	109889532	109889532	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:109889532C>T	uc001toi.1	-	7	898	c.810G>A	c.(808-810)GCG>GCA	p.A270A	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Silent_p.A244A|KCTD10_uc001toj.1_Silent_p.A279A|KCTD10_uc001tok.1_Silent_p.A89A	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	270					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						CCTCCAGGAGCGCATTGTCAG	0.647												
CUX2	23316	broad.mit.edu	37	12	111734323	111734323	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:111734323C>T	uc001tsa.1	+	8	837	c.684C>T	c.(682-684)TAC>TAT	p.Y228Y		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	228	Potential.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GGCGGAAGTACGACGAGGAGG	0.622												
C12orf51	283450	broad.mit.edu	37	12	112607396	112607396	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:112607396G>A	uc009zwc.2	-	63	10871	c.10853C>T	c.(10852-10854)TCG>TTG	p.S3618L		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GAGCTGAGACGACGGCACTGA	0.577												
MED13L	23389	broad.mit.edu	37	12	116429481	116429481	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:116429481T>C	uc001tvw.2	-	17	3333	c.3278A>G	c.(3277-3279)AAC>AGC	p.N1093S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1093					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTCCACAGAGTTGAGGGGCCG	0.547												
RNFT2	84900	broad.mit.edu	37	12	117187926	117187926	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:117187926C>T	uc009zwn.2	+	4	597	c.364C>T	c.(364-366)CGC>TGC	p.R122C	RNFT2_uc001twb.3_Missense_Mutation_p.R122C|RNFT2_uc001twa.3_Missense_Mutation_p.R32C	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1	122	Extracellular (Potential).|His-rich.					integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TGGCGGCCACCGCGGGGGCTC	0.756												
WDR66	144406	broad.mit.edu	37	12	122396297	122396297	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:122396297A>G	uc009zxk.2	+	12	1992	c.1850A>G	c.(1849-1851)TAT>TGT	p.Y617C		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	617	WD 6.						calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGCCACCCATATCAACCCCTC	0.458												
MLXIP	22877	broad.mit.edu	37	12	122623059	122623059	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:122623059G>A	uc001ubq.2	+	14	2345	c.2345G>A	c.(2344-2346)CGG>CAG	p.R782Q	MLXIP_uc001ubt.2_Missense_Mutation_p.R389Q	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	782	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GAGGCCCGGCGGCTGCGGGAG	0.627												
ZCCHC8	55596	broad.mit.edu	37	12	122958509	122958509	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:122958509G>A	uc001ucn.2	-	14	1790	c.1659C>T	c.(1657-1659)TCC>TCT	p.S553S	ZCCHC8_uc001ucl.2_Silent_p.S164S|ZCCHC8_uc001ucm.2_Silent_p.S315S|ZCCHC8_uc009zxp.2_Silent_p.S315S|ZCCHC8_uc009zxq.2_Silent_p.S315S	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	553						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATGAGGCAACGGAATTGCCAG	0.532												
KNTC1	9735	broad.mit.edu	37	12	123060345	123060345	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:123060345A>G	uc001ucv.2	+	29	2650	c.2487_splice	c.e29-2	p.K829_splice	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATTTGCTTTCAGAGTCAAGTT	0.308												
PITPNM2	57605	broad.mit.edu	37	12	123470761	123470761	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:123470761C>T	uc001uej.1	-	25	4002	c.3863G>A	c.(3862-3864)CGC>CAC	p.R1288H	PITPNM2_uc001uek.1_Missense_Mutation_p.R1282H	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1288					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTTCCGGGAGCGCAGAAAGTC	0.736												
DHX37	57647	broad.mit.edu	37	12	125449032	125449032	+	Silent	SNP	G	G	A	rs35913103	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:125449032G>A	uc001ugy.2	-	15	2052	c.1953C>T	c.(1951-1953)GGC>GGT	p.G651G		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	651	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGAGGATACGCCAGTGACGC	0.622												
GOLGA3	2802	broad.mit.edu	37	12	133349748	133349748	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:133349748G>A	uc001ukz.1	-	24	4999	c.4440C>T	c.(4438-4440)CGC>CGT	p.R1480R		NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1480					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTGGGTCGCCGCGTGGGCCGG	0.701												
XPO4	64328	broad.mit.edu	37	13	21417957	21417957	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:21417957G>A	uc001unq.3	-	5	561	c.525C>T	c.(523-525)AAC>AAT	p.N175N	XPO4_uc010tcr.1_Silent_p.N101N	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	175					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TCAATCCAATGTTGCTAGTTT	0.333												
SACS	26278	broad.mit.edu	37	13	23906391	23906391	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:23906391C>T	uc001uon.2	-	10	12213	c.11624G>A	c.(11623-11625)CGT>CAT	p.R3875H	SACS_uc001uoo.2_Missense_Mutation_p.R3728H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3875					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTAACTGTACGCATTTCATT	0.383												
SHISA2	387914	broad.mit.edu	37	13	26620736	26620736	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:26620736C>T	uc001uqm.1	-	2	888	c.803G>A	c.(802-804)GGC>GAC	p.G268D		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	268	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2						AGGCTGCAGGCCGTCCATGAA	0.562												
RNF6	6049	broad.mit.edu	37	13	26788460	26788460	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:26788460A>G	uc001uqo.2	-	5	1850	c.1559T>C	c.(1558-1560)CTG>CCG	p.L520P	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.L520P|RNF6_uc001uqp.2_Missense_Mutation_p.L520P|RNF6_uc001uqq.2_Missense_Mutation_p.L520P|RNF6_uc010tdk.1_Missense_Mutation_p.L164P	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	520					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TAAGTTACTCAGTTCTGAGTG	0.473												
FLT3	2322	broad.mit.edu	37	13	28578289	28578289	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:28578289C>G	uc001urw.2	-	24	2964	c.2882G>C	c.(2881-2883)CGT>CCT	p.R961P	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R920P	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	961	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCGAAACACGGCCATCCAC	0.463			Mis|O		AML|ALL							
SPG20	23111	broad.mit.edu	37	13	36905729	36905729	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:36905729C>A	uc001uvn.2	-	4	1085	c.815G>T	c.(814-816)TGT>TTT	p.C272F	SPG20_uc010ten.1_Missense_Mutation_p.C272F|SPG20_uc001uvm.2_Missense_Mutation_p.C272F|SPG20_uc001uvo.2_Missense_Mutation_p.C272F|SPG20_uc001uvq.2_Missense_Mutation_p.C272F|SPG20_uc001uvp.2_Missense_Mutation_p.C272F	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	272					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TAACCAGTCACAAACCTGAAA	0.318												
ENOX1	55068	broad.mit.edu	37	13	43788214	43788214	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:43788214C>T	uc001uza.3	-	17	2144	c.1844G>A	c.(1843-1845)CGC>CAC	p.R615H	ENOX1_uc001uzb.3_Missense_Mutation_p.R615H|ENOX1_uc001uzc.3_Missense_Mutation_p.R615H|ENOX1_uc001uyz.3_Missense_Mutation_p.R224H	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	615					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTTGAACATGCGTGGCAGCCT	0.428												
FAM124A	220108	broad.mit.edu	37	13	51825626	51825626	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:51825626G>A	uc001vfg.1	+	3	254	c.123G>A	c.(121-123)GCG>GCA	p.A41A	FAM124A_uc001vfe.2_Silent_p.A41A|FAM124A_uc001vff.1_Silent_p.A77A	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	41										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TTGAAGAGGCGCAGGACCCTT	0.527												
TBC1D4	9882	broad.mit.edu	37	13	75863191	75863191	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:75863191A>G	uc001vjl.1	-	20	3889	c.3542T>C	c.(3541-3543)GTG>GCG	p.V1181A	TBC1D4_uc010tht.1_Missense_Mutation_p.V391A|TBC1D4_uc010thu.1_Missense_Mutation_p.V338A|TBC1D4_uc010aer.2_Missense_Mutation_p.V1173A|TBC1D4_uc010aes.2_Missense_Mutation_p.V1118A	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1181						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATCCTGTAGCACATGATATTC	0.418												
NALCN	259232	broad.mit.edu	37	13	102029266	102029266	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:102029266A>G	uc001vox.1	-	5	704	c.515_splice	c.e5+1	p.K172_splice	NALCN_uc001voy.2_Splice_Site|NALCN_uc001voz.2_Splice_Site_p.K172_splice|NALCN_uc001vpa.2_Splice_Site_p.K172_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)					AGCAGCGCTCACTTTAAAATA	0.388												
FAM155A	728215	broad.mit.edu	37	13	108518356	108518356	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:108518356G>A	uc001vql.2	-	1	1105	c.589C>T	c.(589-591)CGG>TGG	p.R197W		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	197						integral to membrane	binding			skin(1)	1						GCCGCCCCCCGACTCCAGTTC	0.637												
LAMP1	3916	broad.mit.edu	37	13	113960868	113960868	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:113960868G>A	uc001vtm.1	+	2	411	c.130G>A	c.(130-132)GCC>ACC	p.A44T	LAMP1_uc010tka.1_Missense_Mutation_p.A44T	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	44	Lumenal (Potential).|First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GTGCATAATGGCCAACTTCTC	0.512												
OR4K17	390436	broad.mit.edu	37	14	20586464	20586464	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:20586464A>C	uc001vwo.1	+	1	899	c.899A>C	c.(898-900)AAG>ACG	p.K300T		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	272	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTGTAGATAAGTTCCTTGCT	0.408												
METT11D1	64745	broad.mit.edu	37	14	21458721	21458721	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:21458721G>A	uc001vyn.2	+	3	525	c.328G>A	c.(328-330)GCT>ACT	p.A110T	METT11D1_uc010tlk.1_Missense_Mutation_p.A110T|METT11D1_uc001vym.2_Missense_Mutation_p.A110T|METT11D1_uc001vyo.2_Missense_Mutation_p.A110T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	110					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCAAAGACGGGCTAGGCATCT	0.453											OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHD8	57680	broad.mit.edu	37	14	21897486	21897486	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:21897486C>T	uc001was.1	-	3	109	c.15G>A	c.(13-15)TCG>TCA	p.S5S	CHD8_uc001war.1_5'UTR	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	284					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGATGCGTTTCGATTCACCCT	0.443												
ABHD4	63874	broad.mit.edu	37	14	23072850	23072850	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:23072850T>C	uc001wgm.2	+	4	575	c.506T>C	c.(505-507)GTG>GCG	p.V169A	ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Missense_Mutation_p.V169A|ABHD4_uc010tnb.1_Intron	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	169					lipid catabolic process		hydrolase activity			central_nervous_system(1)	1	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTCATCCTGGTGGACCCATGG	0.522												
JUB	84962	broad.mit.edu	37	14	23451381	23451381	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:23451381C>A	uc001whz.2	-	1	471	c.95G>T	c.(94-96)GGG>GTG	p.G32V		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	32	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		CTTGCCCGGCCCGGGGGTCCC	0.677												
DCAF11	80344	broad.mit.edu	37	14	24590651	24590651	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:24590651C>T	uc001wlv.2	+	13	1604	c.1324C>T	c.(1324-1326)CGC>TGC	p.R442C	DCAF11_uc001wlw.2_Missense_Mutation_p.R442C|DCAF11_uc001wlz.2_Missense_Mutation_p.R342C|DCAF11_uc001wly.2_Missense_Mutation_p.R398C|DCAF11_uc001wme.2_Missense_Mutation_p.R402C|DCAF11_uc010tny.1_Missense_Mutation_p.R309C|DCAF11_uc001wmd.2_Missense_Mutation_p.R442C|DCAF11_uc001wmc.2_Missense_Mutation_p.R342C|DCAF11_uc001wmb.3_Missense_Mutation_p.R416C|DCAF11_uc001wma.3_Missense_Mutation_p.R442C	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	442	WD 6.					CUL4 RING ubiquitin ligase complex	protein binding				0						CACCCTCATCCGCTGCCGGTT	0.592												
NOVA1	4857	broad.mit.edu	37	14	26917657	26917657	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:26917657A>G	uc001wpy.2	-	5	1350	c.1032T>C	c.(1030-1032)GCT>GCC	p.A344A	NOVA1_uc001wpz.2_Silent_p.A320A|NOVA1_uc001wqa.2_Silent_p.A222A	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	347	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		ctgcagccaaagcccctgttg	0.328												
NKX2-1	7080	broad.mit.edu	37	14	36987121	36987121	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:36987121G>T	uc001wtt.2	-	2	819	c.478C>A	c.(478-480)CCG>ACG	p.P160T	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.P190T|NKX2-1_uc001wtv.2_Missense_Mutation_p.P160T|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	160					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TTCCTGCGCGGCGCGCTTGGC	0.692			A		NSCLC							
NKX2-8	26257	broad.mit.edu	37	14	37051465	37051465	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:37051465G>A	uc001wtx.2	-	1	322	c.130C>T	c.(130-132)CTG>TTG	p.L44L		NM_014360	NP_055175	O15522	NKX28_HUMAN	NK2 homeobox 8	44					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TCCGAATCCAGCCAGGCGGCG	0.692												
FOXA1	3169	broad.mit.edu	37	14	38061521	38061521	+	Silent	SNP	G	G	A	rs142975212		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:38061521G>A	uc001wuf.2	-	2	780	c.468C>T	c.(466-468)GGC>GGT	p.G156G	FOXA1_uc010tpz.1_Silent_p.G123G	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	156					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGGCGTcgccgccgccgcccg	0.557												
LRFN5	145581	broad.mit.edu	37	14	42355997	42355997	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:42355997C>T	uc001wvm.2	+	3	1367	c.169C>T	c.(169-171)CGG>TGG	p.R57W	LRFN5_uc010ana.2_Missense_Mutation_p.R57W	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	57	Extracellular (Potential).|LRR 1.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTGGAACTGCGGTTGGCAGA	0.383										HNSCC(30;0.082)		
LRFN5	145581	broad.mit.edu	37	14	42360596	42360596	+	Missense_Mutation	SNP	C	C	T	rs150445484		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:42360596C>T	uc001wvm.2	+	4	2727	c.1529C>T	c.(1528-1530)ACG>ATG	p.T510M	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	510	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAGTTTACTACGGAACAGGAT	0.448										HNSCC(30;0.082)		
JKAMP	51528	broad.mit.edu	37	14	59961785	59961785	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:59961785G>A	uc001xei.3	+	4	845	c.343G>A	c.(343-345)GCA>ACA	p.A115T	JKAMP_uc001xef.3_Missense_Mutation_p.A101T|JKAMP_uc001xeh.3_Missense_Mutation_p.A95T|JKAMP_uc001xeg.3_Missense_Mutation_p.A109T|JKAMP_uc010try.1_Missense_Mutation_p.A38T|JKAMP_uc001xej.3_Missense_Mutation_p.A38T	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	116	Helical; (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						ATGCAGCATGGCAGCTATTAT	0.378												
EIF2S1	1965	broad.mit.edu	37	14	67843159	67843159	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:67843159T>C	uc001xjg.2	+	4	466	c.325T>C	c.(325-327)TAT>CAT	p.Y109H		NM_004094	NP_004085	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2,	109						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			ovary(1)	1				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TTTCTAGGTTTATAGCATTCT	0.328												
SLC8A3	6547	broad.mit.edu	37	14	70512799	70512799	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:70512799C>T	uc001xly.2	-	8	3403	c.2649G>A	c.(2647-2649)AGG>AGA	p.R883R	SLC8A3_uc001xlu.2_Silent_p.R240R|SLC8A3_uc001xlv.2_Silent_p.R254R|SLC8A3_uc001xlw.2_Silent_p.R880R|SLC8A3_uc001xlx.2_Silent_p.R881R|SLC8A3_uc001xlz.2_Silent_p.R877R|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_3'UTR	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	883	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGCGGCCGCCTTCGGTACA	0.602											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C14orf115	55237	broad.mit.edu	37	14	74825385	74825385	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:74825385G>A	uc001xpw.3	+	2	2090	c.1899G>A	c.(1897-1899)GCG>GCA	p.A633A		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	633					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		TGGCAGCAGCGGGTGGCAGGG	0.652												
KIAA0317	9870	broad.mit.edu	37	14	75142501	75142501	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:75142501G>T	uc001xqb.2	-	8	1486	c.981C>A	c.(979-981)TCC>TCA	p.S327S	KIAA0317_uc010tut.1_Silent_p.S166S|KIAA0317_uc001xqc.2_Silent_p.S327S	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	327					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		CAACAGCAGTGGATGGCCGGC	0.522												
ALKBH1	8846	broad.mit.edu	37	14	78140528	78140528	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:78140528G>A	uc001xuc.1	-	6	806	c.797C>T	c.(796-798)ACG>ATG	p.T266M	ALKBH1_uc001xud.1_RNA	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	266	Fe2OG dioxygenase.			TA -> PP (in Ref. 1; CAA63047).	DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAACATGGCCGTGGGGGCCTC	0.463												
FLRT2	23768	broad.mit.edu	37	14	86089608	86089608	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:86089608C>T	uc001xvr.2	+	2	2517	c.1750C>T	c.(1750-1752)CGG>TGG	p.R584W	FLRT2_uc010atd.2_Missense_Mutation_p.R584W	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	584	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)		CCGGGGCCGGCGGAAAGATGA	0.493												
EML5	161436	broad.mit.edu	37	14	89153595	89153595	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:89153595G>A	uc001xxg.2	-	20	3005	c.2819C>T	c.(2818-2820)GCT>GTT	p.A940V	EML5_uc001xxh.1_Missense_Mutation_p.A79V	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	940	WD 15.					cytoplasm|microtubule				ovary(3)	3						TCTTTTTATAGCATAGGTCTT	0.373												
SMEK1	55671	broad.mit.edu	37	14	91942831	91942831	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:91942831G>A	uc001xzn.2	-	6	1853	c.1031C>T	c.(1030-1032)ACG>ATG	p.T344M	SMEK1_uc001xzm.2_Missense_Mutation_p.T344M|SMEK1_uc001xzo.2_Missense_Mutation_p.T344M|SMEK1_uc010atz.2_Missense_Mutation_p.T105M|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Missense_Mutation_p.T220M	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	344						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AGGCTGTAGCGTTTGGGAAAA	0.289												
HSP90AA1	3320	broad.mit.edu	37	14	102551762	102551762	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:102551762G>T	uc001yku.3	-	4	726	c.536C>A	c.(535-537)CCT>CAT	p.P179H	HSP90AA1_uc001ykv.3_Missense_Mutation_p.P301H|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Missense_Mutation_p.P168H	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	179					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ACGACCCATAGGTTCACCTGC	0.388												
AKT1	207	broad.mit.edu	37	14	105239379	105239379	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:105239379G>A	uc001ypk.2	-	11	1562	c.1008C>T	c.(1006-1008)GGC>GGT	p.G336G	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.G336G|AKT1_uc010axa.2_Silent_p.G336G|AKT1_uc001ypm.2_Silent_p.G336G|AKT1_uc001ypn.2_Silent_p.G336G|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Silent_p.G274G	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	336	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACATGACCACGCCCAGCCCCC	0.612		1	Mis		breast|colorectal|ovarian|NSCLC							
KIAA0284	283638	broad.mit.edu	37	14	105344265	105344265	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:105344265C>T	uc010axb.2	+	4	463	c.239C>T	c.(238-240)ACG>ATG	p.T80M	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.T10M|KIAA0284_uc001yps.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	80						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AAGTACGTCACGCTGAAGCTC	0.627												
OR4M2	390538	broad.mit.edu	37	15	22368585	22368585	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:22368585G>A	uc010tzu.1	+	1	10	c.10G>A	c.(10-12)GCA>ACA	p.A4T	LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AATGGAAACTGCAAATTACAC	0.328												
OR4N4	283694	broad.mit.edu	37	15	22382692	22382692	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:22382692T>G	uc001yuc.1	+	7	1201	c.220T>G	c.(220-222)TCC>GCC	p.S74A	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.S74A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGCATCCTACTCCTTCATTGT	0.473												
RYR3	6263	broad.mit.edu	37	15	33873717	33873717	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:33873717G>A	uc001zhi.2	+	14	1516	c.1446G>A	c.(1444-1446)TTG>TTA	p.L482L	RYR3_uc010bar.2_Silent_p.L482L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	482	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGGAATGTTGGCCCTTGTCT	0.438												
RYR3	6263	broad.mit.edu	37	15	33893731	33893731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:33893731C>T	uc001zhi.2	+	17	1970	c.1900C>T	c.(1900-1902)CGA>TGA	p.R634*	RYR3_uc010bar.2_Nonsense_Mutation_p.R634*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	634	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGCAGACACGACTGATTAA	0.527												
C15orf55	256646	broad.mit.edu	37	15	34649312	34649312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:34649312A>T	uc001zif.2	+	7	3174	c.3019A>T	c.(3019-3021)AAA>TAA	p.K1007*	C15orf55_uc010ucc.1_Nonsense_Mutation_p.K1035*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.K1025*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	1007						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGAGAAAAAGAAAAAGGAAGC	0.478			T	BRD3|BRD4	lethal midline carcinoma							
C15orf55	256646	broad.mit.edu	37	15	34649327	34649327	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:34649327G>C	uc001zif.2	+	7	3189	c.3034G>C	c.(3034-3036)GAA>CAA	p.E1012Q	C15orf55_uc010ucc.1_Missense_Mutation_p.E1040Q|C15orf55_uc010ucd.1_Missense_Mutation_p.E1030Q	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	1012						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGAAGCAGAGGAAGAGGATGA	0.488			T	BRD3|BRD4	lethal midline carcinoma							
C15orf23	90417	broad.mit.edu	37	15	40678643	40678643	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:40678643G>A	uc001zll.2	+	3	500	c.385G>A	c.(385-387)GGA>AGA	p.G129R	C15orf23_uc010ucp.1_Missense_Mutation_p.G129R|C15orf23_uc001zlo.2_Missense_Mutation_p.G129R|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	129						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GCTTCATTCAGGAGGTCCAGA	0.423												
NUSAP1	51203	broad.mit.edu	37	15	41667943	41667943	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:41667943C>T	uc001zns.3	+	9	1270	c.1040C>T	c.(1039-1041)ACG>ATG	p.T347M	NUSAP1_uc001znq.3_Intron|NUSAP1_uc001znr.3_Missense_Mutation_p.T346M|NUSAP1_uc010bce.2_Intron|NUSAP1_uc001znt.3_Missense_Mutation_p.T332M|NUSAP1_uc001znv.3_Missense_Mutation_p.T345M|NUSAP1_uc001znu.3_Missense_Mutation_p.T346M|NUSAP1_uc010ucw.1_Intron|NUSAP1_uc001znw.3_Missense_Mutation_p.T151M	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	347	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		ACTGAGGCAACGCAGACTCCA	0.393												
PLA2G4D	283748	broad.mit.edu	37	15	42377688	42377688	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:42377688C>T	uc001zox.2	-	5	523	c.428_splice	c.e5+1	p.T143_splice		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD						phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ACATTACTCACGTTTCTTCCA	0.502												
SLC24A5	283652	broad.mit.edu	37	15	48413289	48413289	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:48413289C>T	uc001zwe.2	+	1	121	c.48C>T	c.(46-48)CTC>CTT	p.L16L	SLC24A5_uc001zwd.2_Silent_p.L16L|SLC24A5_uc010bel.2_Silent_p.L16L	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	16					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCTGTTGCTCGGCATCCTGT	0.587												
TMOD2	29767	broad.mit.edu	37	15	52075001	52075001	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:52075001T>C	uc002abk.2	+	7	929	c.708T>C	c.(706-708)ACT>ACC	p.T236T	TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Silent_p.T192T	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	236					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		TGGCCGCAACTCGCAGCAATG	0.413												
UNC13C	440279	broad.mit.edu	37	15	54825154	54825154	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:54825154T>C	uc002ack.2	+	24	5586	c.5586T>C	c.(5584-5586)AGT>AGC	p.S1862S		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1862					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACAGATGAGTTTCGAACTAA	0.308												
RFX7	64864	broad.mit.edu	37	15	56436614	56436614	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:56436614C>T	uc010bfn.2	-	3	263	c.263G>A	c.(262-264)AGC>AAC	p.S88N		NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						CTCTCCATTGCTGAGACCAGA	0.358												
PARP16	54956	broad.mit.edu	37	15	65555515	65555515	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:65555515C>T	uc002aoo.2	-	4	917	c.663G>A	c.(661-663)CCG>CCA	p.P221P	PARP16_uc002aop.2_Silent_p.P106P|PARP16_uc002aoq.2_Silent_p.P221P	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	221	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						ACTTGACGTCCGGATGGTCAA	0.607												
STOML1	9399	broad.mit.edu	37	15	74277088	74277088	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:74277088G>T	uc002awe.2	-	6	986	c.915C>A	c.(913-915)GCC>GCA	p.A305A	STOML1_uc002awf.2_Silent_p.A304A|STOML1_uc010bje.2_Intron|STOML1_uc010uld.1_Silent_p.A262A|STOML1_uc002awh.2_Silent_p.A255A|STOML1_uc002awg.2_Silent_p.A254A|STOML1_uc002awi.2_Silent_p.A217A	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	305	Cytoplasmic (Potential).|SCP2.					integral to membrane	sterol binding			skin(1)	1						GGCTGACCAGGGCCTCAGACA	0.632												
CYP1A1	1543	broad.mit.edu	37	15	75013634	75013634	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:75013634G>A	uc002ayp.3	-	5	1194	c.1072C>T	c.(1072-1074)CGG>TGG	p.R358W	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.R94W|CYP1A1_uc010bjx.2_Missense_Mutation_p.R94W|CYP1A1_uc002ayq.3_Missense_Mutation_p.R358W|CYP1A1_uc010bjy.2_Missense_Mutation_p.R358W|CYP1A1_uc010bjz.1_Missense_Mutation_p.R94W	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	358					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	TCAGAGAGCCGGGGCCGCCGT	0.602									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia			
CIB2	10518	broad.mit.edu	37	15	78401674	78401674	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:78401674C>A	uc002bdb.1	-	4	570	c.249G>T	c.(247-249)GAG>GAT	p.E83D	CIB2_uc002bdc.1_Missense_Mutation_p.E40D|CIB2_uc010ums.1_Missense_Mutation_p.E83D	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	83	EF-hand 1.						calcium ion binding				0						TGAGGTTCCCCTCACCATCCT	0.512												
CHRNB4	1143	broad.mit.edu	37	15	78927807	78927807	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:78927807G>A	uc002bed.1	-	2	290	c.178C>T	c.(178-180)CTC>TTC	p.L60F	CHRNB4_uc002bee.1_Missense_Mutation_p.L60F|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	60	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GCCAGGGAGAGCTGCAGCTTG	0.507												
ADAMTS7	11173	broad.mit.edu	37	15	79092719	79092719	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:79092719G>A	uc002bej.3	-	2	482	c.271C>T	c.(271-273)CTG>TTG	p.L91L	ADAMTS7_uc010und.1_Silent_p.L91L|ADAMTS7_uc002bek.1_Silent_p.L91L	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	91					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						TTGAAGCGCAGCTCGCGCCCG	0.567												
MEX3B	84206	broad.mit.edu	37	15	82336037	82336037	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:82336037C>T	uc002bgq.1	-	2	1489	c.1174G>A	c.(1174-1176)GTA>ATA	p.V392I		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	392					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						gaagaagaTACCGGAGCTGCA	0.547												
SH3GL3	6457	broad.mit.edu	37	15	84245409	84245409	+	Silent	SNP	C	C	T	rs138675150	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:84245409C>T	uc002bjw.2	+	6	735	c.540C>T	c.(538-540)GAC>GAT	p.D180D	SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.2_Silent_p.D111D|SH3GL3_uc002bju.2_Silent_p.D188D|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	180	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						AGATACCAGACGAAGAAGTCA	0.383												
ADAMTSL3	57188	broad.mit.edu	37	15	84373227	84373227	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:84373227G>A	uc002bjz.3	+	3	380	c.156G>A	c.(154-156)GGG>GGA	p.G52G	ADAMTSL3_uc002bjy.1_Silent_p.G52G|ADAMTSL3_uc010bmt.1_Silent_p.G52G|ADAMTSL3_uc010bmu.1_Silent_p.G52G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	52						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACACAACAGGGGAGCAGTTCC	0.463												
ADAMTSL3	57188	broad.mit.edu	37	15	84657541	84657541	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:84657541A>G	uc002bjz.3	+	22	4039	c.3815A>G	c.(3814-3816)GAT>GGT	p.D1272G	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1272G|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1272G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1272	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTGGTTCAGATGTGGAAAGT	0.323												
ALPK3	57538	broad.mit.edu	37	15	85400994	85400994	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:85400994C>T	uc002ble.2	+	6	3798	c.3631C>T	c.(3631-3633)CGG>TGG	p.R1211W		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1211					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTTAGTCCCCGGACATCGAG	0.662												
MRPS11	64963	broad.mit.edu	37	15	89020237	89020237	+	Silent	SNP	C	C	T	rs149594277	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:89020237C>T	uc002bml.2	+	5	694	c.429C>T	c.(427-429)GGC>GGT	p.G143G	MRPS11_uc002bmm.2_Silent_p.G110G|MRPS11_uc002bmn.2_Silent_p.G142G|MRPS11_uc010bnj.2_RNA	NM_022839	NP_073750	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11 isoform a	143					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AACAAAAGGGCGTGATCCACA	0.507											OREG0023439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CRTC3	64784	broad.mit.edu	37	15	91172715	91172715	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:91172715G>A	uc002bpp.2	+	11	1323	c.1217G>A	c.(1216-1218)AGC>AAC	p.S406N	CRTC3_uc002bpo.2_Missense_Mutation_p.S406N	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	406					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAAGGTTTCAGCAGACAGCTG	0.562			T	MAML2	salivary gland mucoepidermoid							
MCTP2	55784	broad.mit.edu	37	15	94858782	94858782	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:94858782T>C	uc002btj.2	+	3	618	c.553T>C	c.(553-555)TTG>CTG	p.L185L	MCTP2_uc010urg.1_Silent_p.L185L|MCTP2_uc002bti.2_Silent_p.L185L|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Silent_p.L185L|MCTP2_uc002btg.3_Silent_p.L185L|MCTP2_uc002bth.3_Silent_p.L185L	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	185	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGTGATGGCTTGAGTAACCT	0.527												
IGF1R	3480	broad.mit.edu	37	15	99442794	99442794	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:99442794C>T	uc002bul.2	+	5	1241	c.1191C>T	c.(1189-1191)GTC>GTT	p.V397V	IGF1R_uc010urq.1_Silent_p.V397V|IGF1R_uc010bon.2_Silent_p.V397V	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	397					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATGCCTTGGTCTCCTTGTCCT	0.473												
LRRC28	123355	broad.mit.edu	37	15	99926275	99926275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:99926275C>T	uc002bva.1	+	10	1227	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	LRRC28_uc002bvb.1_Nonsense_Mutation_p.Q204*|LRRC28_uc010urt.1_Nonsense_Mutation_p.Q172*|LRRC28_uc002bvc.1_Silent_p.P304P|LRRC28_uc010uru.1_Nonsense_Mutation_p.Q289*|LRRC28_uc002bvd.1_Nonsense_Mutation_p.Q84*	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	358											0	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CTGCTCCACCCAGTGTCTGCA	0.493												
ADAMTS17	170691	broad.mit.edu	37	15	100692871	100692871	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:100692871G>A	uc002bvv.1	-	10	1498	c.1419C>T	c.(1417-1419)AAC>AAT	p.N473N	ADAMTS17_uc002bvx.1_Silent_p.N230N	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	473	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCACTGCTCGTTGGCACTGT	0.587												
WDR90	197335	broad.mit.edu	37	16	700674	700674	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:700674G>T	uc002cii.1	+	5	578	c.524G>T	c.(523-525)AGG>ATG	p.R175M	WDR90_uc002cig.1_Missense_Mutation_p.R175M|WDR90_uc002cih.1_Missense_Mutation_p.R175M|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	175										ovary(1)	1		Hepatocellular(780;0.0218)				CTGCTGGTCAGGAACCTGTAC	0.612												
BAIAP3	8938	broad.mit.edu	37	16	1392008	1392008	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:1392008C>A	uc002clk.1	+	10	903	c.903C>A	c.(901-903)TCC>TCA	p.S301S	BAIAP3_uc002clj.2_Silent_p.S283S|BAIAP3_uc010uuz.1_Silent_p.S266S|BAIAP3_uc010uva.1_Silent_p.S238S|BAIAP3_uc010uvb.1_Silent_p.S318S|BAIAP3_uc010uvc.1_Silent_p.S266S	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	301	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				ACGATGTATCCCTGGTAGAAG	0.622												
CCNF	899	broad.mit.edu	37	16	2506911	2506911	+	Missense_Mutation	SNP	C	C	T	rs142532028	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:2506911C>T	uc002cqd.1	+	17	2339	c.2251C>T	c.(2251-2253)CGT>TGT	p.R751C	CCNF_uc002cqe.1_Missense_Mutation_p.R443C	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	751	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				TTTACAGTGTCGTCCCCCAAG	0.587												
ADCY9	115	broad.mit.edu	37	16	4164837	4164837	+	Missense_Mutation	SNP	C	C	T	rs143296765	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:4164837C>T	uc002cvx.2	-	2	1146	c.607G>A	c.(607-609)GAC>AAC	p.D203N		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	203	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						TTGGAGCTGTCGCCGCGTCCT	0.597												
GLIS2	84662	broad.mit.edu	37	16	4386992	4386992	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:4386992G>A	uc002cwc.1	+	6	1099	c.1042G>A	c.(1042-1044)GTC>ATC	p.V348I		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	348					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						CGGCCCCTATGTCAGTGGGGC	0.701												
TXNDC11	51061	broad.mit.edu	37	16	11781746	11781746	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:11781746C>T	uc010buu.1	-	11	2263	c.2201G>A	c.(2200-2202)CGG>CAG	p.R734Q	TXNDC11_uc002dbg.1_Missense_Mutation_p.R707Q	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	734	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						GGGCAGGTTCCGAGCTAGCTG	0.527												
C16orf88	400506	broad.mit.edu	37	16	19725566	19725566	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:19725566G>T	uc002dgq.2	-	2	807	c.792C>A	c.(790-792)GCC>GCA	p.A264A	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	264	Lys-rich.					nucleolus					0						TCTTTGCGGAGGCCTTAGGGT	0.478												
PRKCB	5579	broad.mit.edu	37	16	24046762	24046762	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:24046762G>A	uc002dmd.2	+	5	620	c.423G>A	c.(421-423)AAG>AAA	p.K141K	PRKCB_uc002dme.2_Silent_p.K141K	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	141	Phorbol-ester/DAG-type 2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	ATGTGCACAAGCGCTGCGTGA	0.632												
IL21R	50615	broad.mit.edu	37	16	27441397	27441397	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:27441397C>T	uc002doq.1	+	2	238	c.5C>T	c.(4-6)CCG>CTG	p.P2L	IL21R_uc002dor.1_Missense_Mutation_p.P2L|IL21R_uc002dos.1_Missense_Mutation_p.P2L	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	2					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						GTCAGCATGCCGCGTGGCTGG	0.701			T	BCL6	NHL							
ZNF688	146542	broad.mit.edu	37	16	30581665	30581665	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:30581665G>A	uc002dyt.2	-	3	1181	c.403C>T	c.(403-405)CTG>TTG	p.L135L	ZNF688_uc002dys.2_Silent_p.L121L|uc002dyu.2_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	zinc finger protein 688 isoform a	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGTTCCACCAGCACTTCAGGA	0.602												
ZNF646	9726	broad.mit.edu	37	16	31091327	31091327	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:31091327G>A	uc002eap.2	+	2	3971	c.3682G>A	c.(3682-3684)GGC>AGC	p.G1228S		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CCACCAGACCGGCCACTTTGG	0.627												
TGFB1I1	7041	broad.mit.edu	37	16	31485172	31485172	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:31485172C>T	uc002ecd.1	+	4	225	c.199C>T	c.(199-201)CGG>TGG	p.R67W	TGFB1I1_uc002ece.1_Missense_Mutation_p.R50W|TGFB1I1_uc010caq.1_5'UTR	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	67	Transcription activation (By similarity).|Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						ATGCAAGCCTCGGTCCCCAAA	0.632												
AKTIP	64400	broad.mit.edu	37	16	53534205	53534205	+	Translation_Start_Site	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:53534205T>C	uc002ehk.2	-	2	178	c.-33A>G	c.(-35--31)ATACA>ATGCA		AKTIP_uc002ehl.2_Translation_Start_Site|AKTIP_uc002ehm.2_Translation_Start_Site|AKTIP_uc010vgx.1_Translation_Start_Site	NM_001012398	NP_001012398	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding				0		all_cancers(37;0.14)				GTCAGTGGTGTATCATCCAAA	0.368												
KATNB1	10300	broad.mit.edu	37	16	57789031	57789031	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:57789031C>T	uc002eml.1	+	15	1671	c.1297C>T	c.(1297-1299)CTG>TTG	p.L433L		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	433	Interaction with KATNA1 and NDEL1 (By similarity).|Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				ACACTTTCAGCTGGAGGTCCT	0.667												
CDH16	1014	broad.mit.edu	37	16	66949216	66949216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:66949216G>A	uc002eql.2	-	6	563	c.490C>T	c.(490-492)CGA>TGA	p.R164*	CDH16_uc010cdy.2_Nonsense_Mutation_p.R164*|CDH16_uc002eqm.2_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	164	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ATGTGGAATCGAAGATCCGAG	0.617												
TERF2	7014	broad.mit.edu	37	16	69400774	69400774	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:69400774C>T	uc002exd.2	-	7	1275	c.1150G>A	c.(1150-1152)GCT>ACT	p.A384T		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	384					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				GGCGCTGAAGCGGCCTCCTGG	0.557												
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:70841641G>A	uc002ezr.2	-	86	15333	c.15205C>T	c.(15205-15207)CGG>TGG	p.R5069W	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5070										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517												
TAT	6898	broad.mit.edu	37	16	71602123	71602123	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:71602123G>A	uc002fap.2	-	12	1388	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	430					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCGGCTGCACGCCTCCAGCAT	0.507												
PHLPP2	23035	broad.mit.edu	37	16	71724517	71724517	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:71724517G>A	uc002fax.2	-	3	520	c.514C>T	c.(514-516)CGC>TGC	p.R172C	PHLPP2_uc010cgf.2_Missense_Mutation_p.R172C|PHLPP2_uc002fay.1_Missense_Mutation_p.R172C	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	172	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						ACAACTAGGCGCTCAGCCCAC	0.468												
GLG1	2734	broad.mit.edu	37	16	74496029	74496029	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:74496029C>T	uc002fcy.3	-	22	3049	c.2999G>A	c.(2998-3000)CGC>CAC	p.R1000H	GLG1_uc002fcx.2_Missense_Mutation_p.R1000H|GLG1_uc002fcw.3_Missense_Mutation_p.R989H|GLG1_uc002fcz.3_Missense_Mutation_p.R417H	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	1000	Extracellular (Potential).|Cys-rich GLG1 15.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						AGGATCCAGGCGGTAGTCCAG	0.537												
GLG1	2734	broad.mit.edu	37	16	74519764	74519764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:74519764G>A	uc002fcy.3	-	9	1551	c.1501C>T	c.(1501-1503)CGA>TGA	p.R501*	GLG1_uc002fcx.2_Nonsense_Mutation_p.R501*|GLG1_uc002fcw.3_Nonsense_Mutation_p.R490*|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	501	Extracellular (Potential).|Cys-rich GLG1 7.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						TTCAAAGCTCGATCAATGCGG	0.388												
TAF1C	9013	broad.mit.edu	37	16	84215812	84215812	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:84215812C>T	uc002fhn.2	-	7	945	c.717G>A	c.(715-717)AGG>AGA	p.R239R	TAF1C_uc002fhm.2_Silent_p.R172R|TAF1C_uc010vnx.1_Silent_p.R239R|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_5'UTR|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.R239R	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	239					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						GGATACGCAGCCTGTCCTGGG	0.637												
KCNG4	93107	broad.mit.edu	37	16	84256129	84256129	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:84256129C>T	uc010voc.1	-	3	1375	c.1254G>A	c.(1252-1254)ACG>ACA	p.T418T		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	418	Selectivity filter (By similarity).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CGTAGCCCACCGTTGTCATGG	0.642												
TUBB3	10381	broad.mit.edu	37	16	90001915	90001915	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:90001915C>T	uc002fph.1	+	4	1121	c.1056C>T	c.(1054-1056)GCC>GCT	p.A352A	TUBB3_uc002fpf.2_Silent_p.A699A|TUBB3_uc010ciz.1_Silent_p.A280A|TUBB3_uc002fpg.1_Silent_p.A206A|TUBB3_uc002fpi.1_Silent_p.A280A|TUBB3_uc002fpj.1_Silent_p.A280A|TUBB3_uc010cjb.1_Silent_p.A206A|TUBB3_uc002fpk.1_Silent_p.A206A	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	352					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			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)		TGAAGGTGGCCGTGTGTGACA	0.597												
SMG6	23293	broad.mit.edu	37	17	2203754	2203754	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:2203754C>T	uc002fub.1	-	2	348	c.293G>A	c.(292-294)TGC>TAC	p.C98Y	SMG6_uc002fud.1_Missense_Mutation_p.C67Y	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	98					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						CAGTTCCTTGCAGACATCTTT	0.448												
KIAA0664	23277	broad.mit.edu	37	17	2598515	2598515	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:2598515T>C	uc002fuy.1	-	15	2573	c.2487A>G	c.(2485-2487)TTA>TTG	p.L829L	KIAA0664_uc002fux.1_Silent_p.L762L|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	829							binding			breast(2)	2						GTGGCACCTGTAAGTACGTCT	0.627												
TRPV3	162514	broad.mit.edu	37	17	3431416	3431416	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:3431416A>G	uc002fvt.1	-	11	1728	c.1406T>C	c.(1405-1407)ATC>ACC	p.I469T	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.I453T|TRPV3_uc010vri.1_Missense_Mutation_p.I424T|TRPV3_uc010vrj.1_Missense_Mutation_p.I453T|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.I453T|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.I469T|TRPV3_uc002fvu.2_Missense_Mutation_p.I469T|TRPV3_uc010vrn.1_Missense_Mutation_p.I51T	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	469	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	GGGGTGCGGGATGGCCTGCAG	0.567												
CTNS	1497	broad.mit.edu	37	17	3558639	3558639	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:3558639C>T	uc002fwb.2	+	7	1047	c.454C>T	c.(454-456)CGG>TGG	p.R152W	CTNS_uc002fwa.2_Missense_Mutation_p.R152W|CTNS_uc010ckj.2_Missense_Mutation_p.R152W|CTNS_uc010vrv.1_Missense_Mutation_p.R5W|CTNS_uc010vrw.1_Missense_Mutation_p.R44W	NM_004937	NP_004928	O60931	CTNS_HUMAN	cystinosin isoform 2	152	Cytoplasmic (Potential).|PQ-loop 1.				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity				0				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GAATTGGAGGCGGAAAAGGTA	0.592												
ZZEF1	23140	broad.mit.edu	37	17	3974038	3974038	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:3974038C>T	uc002fxe.2	-	26	4079	c.4015G>A	c.(4015-4017)GCC>ACC	p.A1339T	ZZEF1_uc002fxj.1_5'UTR	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1339							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAAAGGTGGCGTTCACAGCT	0.398												
CAMTA2	23125	broad.mit.edu	37	17	4885435	4885435	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:4885435A>G	uc002gah.1	-	6	468	c.360T>C	c.(358-360)GTT>GTC	p.V120V	CAMTA2_uc010cku.1_Silent_p.V143V|CAMTA2_uc002gag.1_Intron|CAMTA2_uc002gai.1_Silent_p.V122V|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.1_5'UTR	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	120	CG-1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						TGGAAGAGTGAACGTAGCAGC	0.592												
NUP88	4927	broad.mit.edu	37	17	5312106	5312106	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:5312106G>A	uc002gbo.1	-	5	830	c.804C>T	c.(802-804)TAC>TAT	p.Y268Y	NUP88_uc010vsx.1_Silent_p.Y268Y|NUP88_uc010cle.1_Silent_p.Y267Y|NUP88_uc010vsy.1_Silent_p.Y268Y	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	268					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						CATATAAGATGTACAGTGGGT	0.443												
ACADVL	37	broad.mit.edu	37	17	7127562	7127562	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:7127562G>A	uc002gev.2	+	15	1683	c.1532G>A	c.(1531-1533)CGG>CAG	p.R511Q	ACADVL_uc010vtp.1_Missense_Mutation_p.R521Q|ACADVL_uc002gew.2_Missense_Mutation_p.R489Q|ACADVL_uc002gex.2_Missense_Mutation_p.R435Q|uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank	NM_000018	NP_000009	P49748	ACADV_HUMAN	acyl-Coenzyme A dehydrogenase, very long chain	511	Membrane-anchoring (Probable).				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			ovary(3)	3						CAGCTGAGGCGGTAGGCTTAG	0.602												
ALOX12B	242	broad.mit.edu	37	17	7979592	7979592	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:7979592C>T	uc002gjy.1	-	11	1694	c.1433G>A	c.(1432-1434)AGC>AAC	p.S478N		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	478	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						GAGGTAGAGGCTGTCATAGGT	0.597										Multiple Myeloma(8;0.094)		
C17orf59	54785	broad.mit.edu	37	17	8093038	8093038	+	Missense_Mutation	SNP	C	C	G	rs144247363	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:8093038C>G	uc010vut.1	-	1	527	c.421G>C	c.(421-423)GAG>CAG	p.E141Q		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	141											0						TCTTCCTCCTCCTGCTGCTCA	0.716												
MYH3	4621	broad.mit.edu	37	17	10538325	10538325	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:10538325C>T	uc002gmq.1	-	30	4265	c.4188G>A	c.(4186-4188)CAG>CAA	p.Q1396Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1396	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CTTGAAGGCGCTGAGCAAGTT	0.433												
MYH3	4621	broad.mit.edu	37	17	10541627	10541627	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:10541627C>T	uc002gmq.1	-	26	3539	c.3462G>A	c.(3460-3462)GCG>GCA	p.A1154A		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1154	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TGACGCCTCCCGCCTCCTCCA	0.652												
ELAC2	60528	broad.mit.edu	37	17	12897751	12897751	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:12897751T>G	uc002gnz.3	-	22	2194	c.2099A>C	c.(2098-2100)AAG>ACG	p.K700T	ELAC2_uc002gnu.3_Missense_Mutation_p.K97T|ELAC2_uc002gnv.3_Missense_Mutation_p.K328T|ELAC2_uc002gnw.3_Missense_Mutation_p.K356T|ELAC2_uc002gnx.3_Missense_Mutation_p.K460T|ELAC2_uc010vvo.1_Missense_Mutation_p.K498T|ELAC2_uc010vvp.1_Missense_Mutation_p.K681T|ELAC2_uc010vvq.1_Missense_Mutation_p.K699T|ELAC2_uc010vvr.1_Missense_Mutation_p.K660T	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	700					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						CCTGTGTGTCTTTTCCACTGC	0.557									Hereditary_Prostate_Cancer			
TEKT3	64518	broad.mit.edu	37	17	15217493	15217493	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:15217493C>T	uc002gon.2	-	6	976	c.789G>A	c.(787-789)ACG>ACA	p.T263T		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	263					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCCGGTAAGCCGTCTGTTTGT	0.557												
ZNF624	57547	broad.mit.edu	37	17	16550695	16550695	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:16550695G>A	uc010cpi.1	-	3	184	c.101C>T	c.(100-102)ACC>ATC	p.T34I		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCTGGCTGGGTAACTTCAGG	0.284												
NT5M	56953	broad.mit.edu	37	17	17209922	17209922	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:17209922C>T	uc002grf.2	+	2	518	c.333C>T	c.(331-333)GCC>GCT	p.A111A	NT5M_uc002gre.2_Silent_p.A111A|NT5M_uc002grg.2_Silent_p.A111A	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial precursor	111					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding				0						TGCCAGGGGCCGTGGAAGCTG	0.493												
MYO15A	51168	broad.mit.edu	37	17	18023025	18023025	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:18023025C>T	uc010vxh.1	+	2	1249	c.911C>T	c.(910-912)ACC>ATC	p.T304I		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	304	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCGGGGTACACCTACGGCTAC	0.627												
MYO15A	51168	broad.mit.edu	37	17	18045519	18045519	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:18045519C>T	uc010vxh.1	+	23	6114	c.5776C>T	c.(5776-5778)CGC>TGC	p.R1926C		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1926	Neck or regulatory domain.|IQ 2.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCGCTCTCTGCGCCACAAGAT	0.597												
SMCR8	140775	broad.mit.edu	37	17	18219551	18219551	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:18219551G>A	uc002gsy.3	+	1	958	c.448G>A	c.(448-450)GTG>ATG	p.V150M		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	150										central_nervous_system(1)	1						CCGTGGCTTCGTGAGGCCGTT	0.532												
SMCR8	140775	broad.mit.edu	37	17	18225952	18225952	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:18225952C>T	uc002gsy.3	+	2	2892	c.2382C>T	c.(2380-2382)GCC>GCT	p.A794A		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	794										central_nervous_system(1)	1						CTGCCGGTGCCGGTACCCTCC	0.637												
TNFAIP1	7126	broad.mit.edu	37	17	26671481	26671481	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:26671481C>T	uc002hax.1	+	7	825	c.806C>T	c.(805-807)GCC>GTC	p.A269V	TNFAIP1_uc002hay.2_Missense_Mutation_p.A269V|TNFAIP1_uc010waf.1_Missense_Mutation_p.A165V	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	269					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTGTTGGAGGCCACAAGCCGT	0.592												
NEK8	284086	broad.mit.edu	37	17	27064710	27064710	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:27064710C>T	uc002hcp.2	+	6	845	c.845C>T	c.(844-846)GCC>GTC	p.A282V		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	282						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R282Q(1)		stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					AAGTCCGTGGCCCCCAGCAAC	0.597												
NEK8	284086	broad.mit.edu	37	17	27068189	27068189	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:27068189G>A	uc002hcp.2	+	13	1826	c.1826G>A	c.(1825-1827)GGC>GAC	p.G609D	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	609	RCC1 4.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					AAGGTCCAAGGCCTTGAGGGC	0.582												
NF1	4763	broad.mit.edu	37	17	29509634	29509634	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:29509634T>C	uc002hgg.2	+	8	1172	c.839T>C	c.(838-840)ATA>ACA	p.I280T	NF1_uc002hge.1_Missense_Mutation_p.I280T|NF1_uc002hgf.1_Missense_Mutation_p.I280T|NF1_uc002hgh.2_Missense_Mutation_p.I280T|NF1_uc010csn.1_Missense_Mutation_p.I140T	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	280					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTCCAGAAATAATCCAGGAT	0.368			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
GPR179	440435	broad.mit.edu	37	17	36484278	36484278	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:36484278C>A	uc002hpz.2	-	11	5195	c.5174G>T	c.(5173-5175)AGG>ATG	p.R1725M		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1725	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGAGATTTCCTAATGGCCTC	0.547												
FBXO47	494188	broad.mit.edu	37	17	37107906	37107906	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:37107906G>A	uc002hrc.2	-	6	744	c.544C>T	c.(544-546)CGC>TGC	p.R182C		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	182											0						TTATAAACGCGATGGCACTCA	0.358												
KRT34	3885	broad.mit.edu	37	17	39534393	39534393	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:39534393G>T	uc002hwm.2	-	7	1241	c.1229C>A	c.(1228-1230)CCC>CAC	p.P410H		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	410	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				TGGGTTGCAGGGGAGCCTAGG	0.483												
CCR10	2826	broad.mit.edu	37	17	40832555	40832555	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:40832555A>G	uc002iax.3	-	2	109	c.105T>C	c.(103-105)GAT>GAC	p.D35D	CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	35	Extracellular (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGGCCTGGACATCGGCCTTGT	0.637												
BRCA1	672	broad.mit.edu	37	17	41243800	41243800	+	Missense_Mutation	SNP	C	C	T	rs28897686	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:41243800C>T	uc002icq.2	-	10	3980	c.3748G>A	c.(3748-3750)GAG>AAG	p.E1250K	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E1179K|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E1203K|BRCA1_uc002ict.2_Missense_Mutation_p.E1250K|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E1250K|BRCA1_uc002ide.1_Missense_Mutation_p.E1081K|BRCA1_uc010cyy.1_Missense_Mutation_p.E1250K|BRCA1_uc010whs.1_Missense_Mutation_p.E1250K|BRCA1_uc010cyz.2_Missense_Mutation_p.E1203K|BRCA1_uc010cza.2_Missense_Mutation_p.E1224K|BRCA1_uc010wht.1_Missense_Mutation_p.E954K	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1250					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACAGACACTCGGTAGCAACG	0.398			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
C1QL1	10882	broad.mit.edu	37	17	43045010	43045010	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:43045010A>C	uc002ihv.2	-	1	635	c.407T>G	c.(406-408)CTC>CGC	p.L136R		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	136	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				GGGGTTCTTGAGGCCGGCGTA	0.473												
NMT1	4836	broad.mit.edu	37	17	43174504	43174504	+	Missense_Mutation	SNP	G	G	A	rs150418753		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:43174504G>A	uc002ihz.2	+	6	623	c.605G>A	c.(604-606)CGG>CAG	p.R202Q	NMT1_uc002iia.2_RNA	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	202					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity				0		Prostate(33;0.155)				AGGGCTCTCCGGCCACCCGGC	0.602											OREG0024469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CRHR1	1394	broad.mit.edu	37	17	43907506	43907506	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:43907506G>A	uc010dap.2	+	7	833	c.568G>A	c.(568-570)GCC>ACC	p.A190T	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.A60T|CRHR1_uc002ijm.2_Missense_Mutation_p.A161T|CRHR1_uc002ijn.2_Missense_Mutation_p.A121T|CRHR1_uc010dar.2_Missense_Mutation_p.A161T|CRHR1_uc010dao.2_Missense_Mutation_p.A60T|CRHR1_uc010daq.2_Intron|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	190	Helical; Name=2; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTCATCTCCGCCTTCATCCT	0.627												
CBX1	10951	broad.mit.edu	37	17	46154279	46154279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:46154279G>A	uc002ind.3	-	2	569	c.88C>T	c.(88-90)CGA>TGA	p.R30*	CBX1_uc002ine.3_Nonsense_Mutation_p.R30*	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	30	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						TTTACCACTCGACGGTCGAGA	0.473												
SNX11	29916	broad.mit.edu	37	17	46196139	46196139	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:46196139G>A	uc002inf.1	+	6	658	c.304G>A	c.(304-306)GGT>AGT	p.G102S	SNX11_uc010wlg.1_Missense_Mutation_p.G94S|SNX11_uc010wlh.1_Missense_Mutation_p.G94S|SNX11_uc010wli.1_Missense_Mutation_p.G41S|SNX11_uc010wlj.1_5'UTR|SNX11_uc002ing.1_Missense_Mutation_p.G102S|SNX11_uc002inh.1_Missense_Mutation_p.G102S	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	102	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding				0						GCGACGACAAGGTCTGCAGCA	0.552												
XYLT2	64132	broad.mit.edu	37	17	48437479	48437479	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:48437479G>A	uc002iqo.2	+	11	2534	c.2425G>A	c.(2425-2427)GAG>AAG	p.E809K	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	809	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					CCCTGCGCTCGAGGCCTGGAC	0.662												
SPATA20	64847	broad.mit.edu	37	17	48629529	48629529	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:48629529C>T	uc002irf.2	+	13	2038	c.1897C>T	c.(1897-1899)CGT>TGT	p.R633C	SPATA20_uc002irc.2_Missense_Mutation_p.R300C|SPATA20_uc002ire.2_Missense_Mutation_p.R589C|SPATA20_uc002ird.2_Missense_Mutation_p.R649C|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	633					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCTGCCCCTGCGTCTGAAGGA	0.657												
MKS1	54903	broad.mit.edu	37	17	56284534	56284534	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:56284534C>T	uc002ivr.1	-	15	1394	c.1319G>A	c.(1318-1320)GGC>GAC	p.G440D	MKS1_uc010wnq.1_Missense_Mutation_p.G237D|MKS1_uc002ivs.1_Intron	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	440					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						AGCCACCGTGCCAAGCTCCAC	0.572												
BZRAP1	9256	broad.mit.edu	37	17	56386607	56386607	+	Silent	SNP	G	G	A	rs148608257	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:56386607G>A	uc002ivx.3	-	22	4897	c.4026C>T	c.(4024-4026)GAC>GAT	p.D1342D	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Silent_p.D1282D|BZRAP1_uc010wnt.1_Silent_p.D1342D	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1342	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					cctcctcctcgtcctcctctt	0.473												
SMARCD2	6603	broad.mit.edu	37	17	61911635	61911635	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:61911635C>T	uc010deb.1	-	8	1292	c.975G>A	c.(973-975)ACG>ACA	p.T325T	SMARCD2_uc010wpt.1_Silent_p.T277T|SMARCD2_uc010dea.1_Silent_p.T250T|SMARCD2_uc010dec.1_Silent_p.T304T	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	325	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						CCCTCGTCTGCGTGTGCACTC	0.567											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GH2	2689	broad.mit.edu	37	17	61958199	61958199	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:61958199C>T	uc002jco.1	-	4	451	c.389G>A	c.(388-390)GGC>GAC	p.G130D	GH2_uc002jcj.2_Missense_Mutation_p.G130D|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.G130D|GH2_uc002jcm.1_Missense_Mutation_p.G130D|GH2_uc002jcn.1_Missense_Mutation_p.G115D	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	130						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						GTCCGAGGCGCCATACACCAG	0.612												
CCDC45	90799	broad.mit.edu	37	17	62523312	62523312	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:62523312T>G	uc002jem.2	+	11	1294	c.1236T>G	c.(1234-1236)GAT>GAG	p.D412E	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.D248E	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	412						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGGTAGAGGATGGAACTGAGG	0.448												
SOX9	6662	broad.mit.edu	37	17	70120416	70120416	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:70120416A>G	uc002jiw.2	+	3	1790	c.1418A>G	c.(1417-1419)CAG>CGG	p.Q473R		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	473					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AACCCCGCTCAGCGCCCCATG	0.637												
GALR2	8811	broad.mit.edu	37	17	74073226	74073226	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:74073226C>T	uc002jqm.1	+	2	959	c.878C>T	c.(877-879)GCG>GTG	p.A293V	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	293	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						ATCGTTTACGCGCTGGTCTCC	0.677												
QRICH2	84074	broad.mit.edu	37	17	74272799	74272799	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:74272799C>T	uc002jrd.1	-	17	4997	c.4817G>A	c.(4816-4818)CGG>CAG	p.R1606Q	QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.R450Q	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1606							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						TGTGTCCATCCGTCCCTTGTA	0.592												
UBE2O	63893	broad.mit.edu	37	17	74395743	74395743	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:74395743C>A	uc002jrm.3	-	9	1480	c.1415G>T	c.(1414-1416)AGG>ATG	p.R472M	UBE2O_uc002jrn.3_Missense_Mutation_p.R472M|UBE2O_uc002jrl.3_Missense_Mutation_p.R75M	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	472							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						CGAGTGCAGCCTGTCATCTCT	0.612												
UBE2O	63893	broad.mit.edu	37	17	74396252	74396252	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:74396252C>T	uc002jrm.3	-	8	1196	c.1131G>A	c.(1129-1131)CAG>CAA	p.Q377Q	UBE2O_uc002jrn.3_Silent_p.Q377Q|UBE2O_uc002jrl.3_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	377							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						AGCCCTCCCCCTGGGCGCAGT	0.562												
SEPT9	10801	broad.mit.edu	37	17	75484868	75484868	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:75484868T>A	uc002jts.3	+	7	1310	c.1184T>A	c.(1183-1185)GTC>GAC	p.V395D	SEPT9_uc010wtk.1_Missense_Mutation_p.V376D|SEPT9_uc002jtt.3_Missense_Mutation_p.V231D|SEPT9_uc002jtu.3_Missense_Mutation_p.V377D|SEPT9_uc002jtv.2_Missense_Mutation_p.V388D|SEPT9_uc002jtw.2_Missense_Mutation_p.V231D|SEPT9_uc010wtl.1_Missense_Mutation_p.V171D|SEPT9_uc002jty.3_Missense_Mutation_p.V144D|SEPT9_uc010wtm.1_Missense_Mutation_p.V144D|SEPT9_uc010wtn.1_Missense_Mutation_p.V144D|SEPT9_uc010dhd.2_Missense_Mutation_p.V283D	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	395					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			CAGGAGGAGGTCAACATCAAC	0.602												
CCDC40	55036	broad.mit.edu	37	17	78021186	78021186	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:78021186G>A	uc010dht.2	+	4	688	c.661G>A	c.(661-663)GTC>ATC	p.V221I	CCDC40_uc010wub.1_Missense_Mutation_p.V221I|CCDC40_uc002jxm.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	221					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGAGGAGTTCGTCTCGCAGGA	0.657											OREG0031512	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
RNF213	57674	broad.mit.edu	37	17	78341576	78341576	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:78341576C>T	uc002jyh.1	+	18	6342	c.6119C>T	c.(6118-6120)ACG>ATG	p.T2040M	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.T422M	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACGTGAAGACGCACGGGCCT	0.592												
BAHCC1	57597	broad.mit.edu	37	17	79412060	79412060	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:79412060G>A	uc002kaf.2	+	7	2691	c.2691G>A	c.(2689-2691)GCG>GCA	p.A897A	BAHCC1_uc002kae.2_Silent_p.A96A	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	897	Pro-rich.						DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			TGGACCAGGCGTCACTGTGGC	0.721												
ARL16	339231	broad.mit.edu	37	17	79649138	79649138	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:79649138G>A	uc002kbf.2	-	4	447	c.348C>T	c.(346-348)TCC>TCT	p.S116S	ARL16_uc002kbe.2_Silent_p.S45S|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	116							GTP binding				0	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTGCACACAGGATGCAGAGA	0.537												
PCYT2	5833	broad.mit.edu	37	17	79862799	79862799	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:79862799G>A	uc002kcf.1	-	13	1143	c.1080C>T	c.(1078-1080)AAC>AAT	p.N360N	PCYT2_uc010wva.1_Silent_p.N328N|PCYT2_uc010wvb.1_Silent_p.N328N|PCYT2_uc002kce.1_Silent_p.N282N|PCYT2_uc002kcg.1_Silent_p.N389N|PCYT2_uc002kch.1_Silent_p.N378N|PCYT2_uc002kci.1_Silent_p.N319N|PCYT2_uc010dii.1_Silent_p.N338N|PCYT2_uc010wvc.1_Silent_p.N282N	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	360					phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCTTCTTCTGGTTTCGCGCCT	0.637												
FASN	2194	broad.mit.edu	37	17	80044378	80044378	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80044378G>A	uc002kdu.2	-	22	3601	c.3484C>T	c.(3484-3486)CCC>TCC	p.P1162S	FASN_uc002kdw.1_Missense_Mutation_p.P378S	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1162					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCCAGTCCGGGCACCACCATC	0.677												
FASN	2194	broad.mit.edu	37	17	80046321	80046321	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80046321G>A	uc002kdu.2	-	16	2655	c.2538C>T	c.(2536-2538)GCC>GCT	p.A846A	FASN_uc002kdw.1_Silent_p.A62A	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	846					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGTCCTCGGCGGCCGGCACGT	0.657												
FN3K	64122	broad.mit.edu	37	17	80708494	80708494	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80708494C>T	uc010wvs.1	+	6	854	c.793C>T	c.(793-795)CGG>TGG	p.R265W	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	265					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CGCCTACCACCGGAAGATCCC	0.567												
LAMA1	284217	broad.mit.edu	37	18	7043243	7043243	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:7043243A>G	uc002knm.2	-	8	1232	c.1138T>C	c.(1138-1140)TAT>CAT	p.Y380H	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	380	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCTATAATATCCATCAATA	0.403												
PTPRM	5797	broad.mit.edu	37	18	8113519	8113519	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:8113519G>A	uc002knn.3	+	12	2395	c.1892G>A	c.(1891-1893)CGA>CAA	p.R631Q	PTPRM_uc010dkv.2_Missense_Mutation_p.R631Q|PTPRM_uc010wzl.1_Missense_Mutation_p.R418Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	631	Fibronectin type-III 4.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GAACGTCCTCGAAGAACTAAA	0.388												
KIAA0802	23255	broad.mit.edu	37	18	8825585	8825585	+	Silent	SNP	G	G	A	rs148473485		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:8825585G>A	uc002knr.2	+	15	4219	c.4077G>A	c.(4075-4077)TCG>TCA	p.S1359S	KIAA0802_uc002knq.2_Silent_p.S1318S|KIAA0802_uc002kns.2_Silent_p.S699S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1669											0						CACCCGTGTCGTCTCCTTCCC	0.622												
SLC14A2	8170	broad.mit.edu	37	18	43207048	43207048	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:43207048A>G	uc010dnj.2	+	5	778	c.457A>G	c.(457-459)ACA>GCA	p.T153A	SLC14A2_uc002lbb.2_Missense_Mutation_p.T153A|SLC14A2_uc002lbe.2_Missense_Mutation_p.T153A	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	153	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						TCCCTGGTGGACAATCACTGG	0.552												
SMAD2	4087	broad.mit.edu	37	18	45395727	45395727	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:45395727T>A	uc002lcy.2	-	4	655	c.407A>T	c.(406-408)GAT>GTT	p.D136V	SMAD2_uc002lcz.2_Missense_Mutation_p.D136V|SMAD2_uc010xdc.1_Missense_Mutation_p.D106V|SMAD2_uc010xdd.1_Missense_Mutation_p.D106V	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	136	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						ACTGTGAAGATCAGGCCAGCG	0.423												
NEDD4L	23327	broad.mit.edu	37	18	56002750	56002750	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:56002750C>T	uc002lgy.2	+	13	1380	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M	NEDD4L_uc002lgz.2_Intron|NEDD4L_uc002lgx.2_Intron|NEDD4L_uc010xee.1_Missense_Mutation_p.T248M|NEDD4L_uc002lhc.2_Missense_Mutation_p.T361M|NEDD4L_uc002lhd.2_Missense_Mutation_p.T248M|NEDD4L_uc002lhb.2_Intron|NEDD4L_uc002lhe.2_Intron|NEDD4L_uc002lhf.2_Intron|NEDD4L_uc002lhg.2_Missense_Mutation_p.T248M|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	369					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						TCAACTGTCACGGGTGGTGAG	0.478												
SERPINB8	5271	broad.mit.edu	37	18	61654234	61654234	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:61654234C>A	uc002ljv.2	+	7	1016	c.847C>A	c.(847-849)CTT>ATT	p.L283I	SERPINB8_uc002lju.2_Missense_Mutation_p.L283I|SERPINB8_uc010xex.1_Missense_Mutation_p.L101I	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	283					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				GGAGCCTTTCCTTCGAAGATT	0.423												
ZNF516	9658	broad.mit.edu	37	18	74153390	74153390	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:74153390G>A	uc010dqx.1	-	2	1856	c.1621C>T	c.(1621-1623)CGC>TGC	p.R541C	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTCTCGCGGCGCGCGCGGCGA	0.697												
ZNF236	7776	broad.mit.edu	37	18	74606996	74606996	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:74606996G>A	uc002lmi.2	+	10	1637	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	480					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AACGGCGTGCGCTGGCATGTG	0.662												
MED16	10025	broad.mit.edu	37	19	873537	873537	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:873537A>C	uc002lqd.1	-	11	1968	c.1817T>G	c.(1816-1818)CTG>CGG	p.L606R	MED16_uc010drw.1_Missense_Mutation_p.L431R|MED16_uc002lqe.2_Missense_Mutation_p.L595R|MED16_uc002lqf.2_Missense_Mutation_p.L595R|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.L526R|MED16_uc010xfx.1_Missense_Mutation_p.L451R|MED16_uc010xfy.1_Missense_Mutation_p.L183R|MED16_uc010xfz.1_RNA	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	606					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCATGTCCAGCACAAATTC	0.582												
MBD3	53615	broad.mit.edu	37	19	1581156	1581156	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:1581156G>A	uc002ltl.1	-	5	634	c.612C>T	c.(610-612)CCC>CCT	p.P204P	MBD3_uc002ltj.2_Silent_p.P204P|MBD3_uc002ltk.2_Silent_p.P172P	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	204					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCATACGCCGGGGTTCTTCT	0.657												
TCF3	6929	broad.mit.edu	37	19	1627405	1627405	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:1627405C>T	uc002ltr.2	-	6	386	c.319G>A	c.(319-321)GCC>ACC	p.A107T	TCF3_uc002ltt.3_Missense_Mutation_p.A107T|TCF3_uc002ltq.2_Missense_Mutation_p.A56T|TCF3_uc002lts.1_Missense_Mutation_p.A23T	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	107					B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCATAGGCGCCCCGCTCA	0.622			T	PBX1|HLF|TFPT	pre B-ALL							
C19orf28	126321	broad.mit.edu	37	19	3547998	3547998	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:3547998C>T	uc002lxz.2	-	4	855	c.685G>A	c.(685-687)GCC>ACC	p.A229T	C19orf28_uc002lxw.2_Missense_Mutation_p.A229T|C19orf28_uc002lxx.2_Missense_Mutation_p.A229T|C19orf28_uc002lxy.2_Missense_Mutation_p.A220T	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	229	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAACACGGCGCCGACACCC	0.711												
PLIN4	729359	broad.mit.edu	37	19	4512048	4512048	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:4512048C>T	uc002mar.1	-	3	1882	c.1882G>A	c.(1882-1884)GTG>ATG	p.V628M	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	628	27 X 33 AA approximate tandem repeat.|17.					lipid particle|plasma membrane					0						GCCACGTTCACGGCACTGGTG	0.552												
LONP1	9361	broad.mit.edu	37	19	5705847	5705847	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:5705847T>C	uc002mcx.2	-	8	1336	c.1303A>G	c.(1303-1305)ATG>GTG	p.M435V	LONP1_uc002mcy.2_Missense_Mutation_p.M371V|LONP1_uc010duh.2_Missense_Mutation_p.M176V|LONP1_uc010dui.2_Missense_Mutation_p.M419V|LONP1_uc002mcz.2_Missense_Mutation_p.M239V	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	435					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						ACAACATCCATGACGTGCTTG	0.622												
RFX2	5990	broad.mit.edu	37	19	6042053	6042053	+	Splice_Site	SNP	A	A	G	rs111454935		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:6042053A>G	uc002meb.2	-	4	529	c.260_splice	c.e4+1	p.I87_splice	RFX2_uc002mec.2_Splice_Site_p.I87_splice|RFX2_uc010xiy.1_Splice_Site_p.I42_splice	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						AGAAGCACGCACATGGCTCCA	0.602												
TRIP10	9322	broad.mit.edu	37	19	6746467	6746467	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:6746467T>C	uc002mfs.2	+	11	1223	c.1157T>C	c.(1156-1158)GTG>GCG	p.V386A	TRIP10_uc010dux.1_Missense_Mutation_p.V330A|TRIP10_uc002mfr.2_Missense_Mutation_p.V330A|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.V149A	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	386	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						TTGCAGACAGTGGTGACCGAG	0.542												
TIMM44	10469	broad.mit.edu	37	19	7999057	7999057	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:7999057T>C	uc002miz.2	-	5	462	c.460A>G	c.(460-462)AAG>GAG	p.K154E	TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	154					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						TTGGCCGTCTTGGCTGCTTCC	0.612												
MYO1F	4542	broad.mit.edu	37	19	8620591	8620591	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:8620591G>A	uc002mkg.2	-	2	207	c.93C>T	c.(91-93)GAC>GAT	p.D31D	MYO1F_uc002mkh.2_Silent_p.D31D|MYO1F_uc010xkf.1_Silent_p.D31D	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	31	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CGGCAATGGCGTCTTCGGTGA	0.617												
MUC16	94025	broad.mit.edu	37	19	9056201	9056201	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:9056201T>G	uc002mkp.2	-	3	31449	c.31245A>C	c.(31243-31245)CAA>CAC	p.Q10415H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10417	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						GTGAAGGAACTTGATAAGCAC	0.478												
MUC16	94025	broad.mit.edu	37	19	9087799	9087799	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:9087799G>T	uc002mkp.2	-	1	4220	c.4016C>A	c.(4015-4017)TCT>TAT	p.S1339Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1339	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						GTGGGGTGTAGAGACCTGAGC	0.512												
COL5A3	50509	broad.mit.edu	37	19	10078753	10078753	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:10078753A>G	uc002mmq.1	-	60	4403	c.4317T>C	c.(4315-4317)GGT>GGC	p.G1439G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1439	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GACCAGGGGGACCCTAGGAAA	0.582												
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224725	10224725	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:10224725G>A	uc002mna.2	+	13	1696	c.1696G>A	c.(1696-1698)GCC>ACC	p.A566T	PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.A146T	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	Error:Variant_position_missing_in_Q9NQ55_after_alignment					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			ACCCAAGCACGCCTGGGCCGT	0.682												
MRPL4	51073	broad.mit.edu	37	19	10368989	10368989	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:10368989C>T	uc002mnm.2	+	7	691	c.537C>T	c.(535-537)ACC>ACT	p.T179T	MRPL4_uc002mnn.2_Silent_p.T179T|MRPL4_uc002mno.2_Silent_p.T179T	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4 isoform a	179					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TGGCACTGACCGTCAAGCTGG	0.637												
ICAM5	7087	broad.mit.edu	37	19	10404979	10404979	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:10404979G>A	uc002mnu.3	+	8	2040	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	ICAM5_uc002mnv.3_Missense_Mutation_p.V534I	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	659	Extracellular (Potential).|Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CAAAACAGTCGTCGTGAGCGC	0.657												
DOCK6	57572	broad.mit.edu	37	19	11323941	11323941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:11323941G>A	uc002mqs.3	-	35	4443	c.4402C>T	c.(4402-4404)CGA>TGA	p.R1468*	DOCK6_uc010xlq.1_Nonsense_Mutation_p.R807*	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1468					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCACAGTGTCGTAGGAGCCTC	0.652												
ACP5	54	broad.mit.edu	37	19	11687262	11687262	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:11687262G>A	uc002msg.3	-	4	677	c.531C>T	c.(529-531)GAC>GAT	p.D177D	ACP5_uc002msh.3_Silent_p.D177D|ACP5_uc002msi.3_Silent_p.D177D|ACP5_uc002msj.3_Silent_p.D177D	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	177				DVKL -> LT (in Ref. 1; AAA76849).	water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						CCAGCTTCACGTCTCGGGGCC	0.597												
ZNF439	90594	broad.mit.edu	37	19	11979027	11979027	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:11979027G>A	uc002mss.2	+	3	1271	c.1143G>A	c.(1141-1143)CCG>CCA	p.P381P	ZNF439_uc002msr.2_Silent_p.P245P	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GAGAGAAACCGTATAAATGCA	0.408												
ZNF791	163049	broad.mit.edu	37	19	12739129	12739129	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:12739129C>T	uc002mua.2	+	4	948	c.786C>T	c.(784-786)CAC>CAT	p.H262H	ZNF791_uc010xml.1_Silent_p.H230H|ZNF791_uc010dyu.1_Silent_p.H153H|ZNF791_uc010xmm.1_Silent_p.H153H	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	262	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTCTAACACACATGATAACAC	0.393												
TNPO2	30000	broad.mit.edu	37	19	12813689	12813689	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:12813689C>T	uc002muo.2	-	20	2438	c.2253G>A	c.(2251-2253)CTG>CTA	p.L751L	TNPO2_uc002mup.2_Silent_p.L843L|TNPO2_uc002muq.2_Silent_p.L751L|TNPO2_uc002mur.2_Silent_p.L751L	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	751	HEAT 13.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						TGATTTCCACCAGGTTGTTGA	0.632												
CYP4F11	57834	broad.mit.edu	37	19	16024639	16024639	+	Missense_Mutation	SNP	G	G	A	rs151267237		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:16024639G>A	uc002nbu.2	-	13	1514	c.1478C>T	c.(1477-1479)CCG>CTG	p.P493L	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Missense_Mutation_p.P493L	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	493					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						AGTGTGGGTCGGCAGGATGCG	0.627												
C19orf44	84167	broad.mit.edu	37	19	16613907	16613907	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:16613907C>A	uc002neh.1	+	3	864	c.791C>A	c.(790-792)CCC>CAC	p.P264H	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.P264H|C19orf44_uc002neg.2_Missense_Mutation_p.P264H|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	264											0						TTTACTGTACCCAGCGTGGAA	0.418												
SIN3B	23309	broad.mit.edu	37	19	16962273	16962273	+	Silent	SNP	C	C	T	rs149541599		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:16962273C>T	uc002ney.1	+	6	791	c.777C>T	c.(775-777)CAC>CAT	p.H259H	SIN3B_uc002new.2_Silent_p.H259H|SIN3B_uc002nex.2_Silent_p.H191H|SIN3B_uc002nez.1_Silent_p.H259H	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	259					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						AGAACGAGCACGACAAGACCC	0.647												
ANO8	57719	broad.mit.edu	37	19	17441906	17441906	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:17441906C>A	uc002ngf.2	-	7	981	c.822G>T	c.(820-822)GAG>GAT	p.E274D	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	274	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						CCTGATCAGCCTCTGTGAATG	0.547												
SLC27A1	376497	broad.mit.edu	37	19	17611178	17611178	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:17611178G>A	uc002ngu.1	+	8	1348	c.1298G>A	c.(1297-1299)CGG>CAG	p.R433Q	SLC27A1_uc010xpp.1_Missense_Mutation_p.R254Q|SLC27A1_uc002ngv.1_Missense_Mutation_p.R35Q	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	433	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						GAGCTGCTGCGGGATGCCCAG	0.682												
TMEM161A	54929	broad.mit.edu	37	19	19245695	19245695	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:19245695G>A	uc002nlg.2	-	2	35	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.A2V|TMEM161A_uc002nli.2_Missense_Mutation_p.A2V|TMEM161A_uc002nlj.2_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	2					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TCCGAGGACCGCCTGGGGGGA	0.627												
ZNF100	163227	broad.mit.edu	37	19	21948556	21948556	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:21948556C>A	uc002nqi.2	-	2	235	c.36G>T	c.(34-36)AAG>AAT	p.K12N		NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACTTGCTCCCTTGAGAGGAC	0.478												
TSHZ3	57616	broad.mit.edu	37	19	31769223	31769223	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:31769223G>A	uc002nsy.3	-	2	1541	c.1476C>T	c.(1474-1476)GGC>GGT	p.G492G		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	492					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCTCTTCTTCGCCAGGCTTGT	0.468												
PDCD5	9141	broad.mit.edu	37	19	33076813	33076813	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:33076813G>T	uc002ntm.2	+	4	322	c.258G>T	c.(256-258)AAG>AAT	p.K86N	PDCD5_uc002ntl.2_Missense_Mutation_p.K86N|PDCD5_uc010ede.2_Intron	NM_004708	NP_004699	O14737	PDCD5_HUMAN	programmed cell death 5	86					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			ovary(1)|lung(1)	2	Esophageal squamous(110;0.137)					TAAGTGAGAAGGTAAGCTTAG	0.373												
UBA2	10054	broad.mit.edu	37	19	34922769	34922769	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:34922769G>A	uc002nvk.2	+	3	296	c.226G>A	c.(226-228)GCC>ACC	p.A76T	UBA2_uc010xrx.1_Intron|UBA2_uc002nvl.2_5'UTR	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	76					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTCCAGGTTGCCAAGGAAAG	0.368												
MLL4	9757	broad.mit.edu	37	19	36215971	36215971	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36215971G>A	uc010eei.2	+	11	3511	c.3511G>A	c.(3511-3513)GTC>ATC	p.V1171I		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1171					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTGCACCGCGTCCGTGTGGA	0.567												
MLL4	9757	broad.mit.edu	37	19	36218423	36218423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36218423G>A	uc010eei.2	+	17	4202	c.4202G>A	c.(4201-4203)TGG>TAG	p.W1401*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1401					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCCCGCTGGCGAGAGGCC	0.672												
MLL4	9757	broad.mit.edu	37	19	36228995	36228995	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36228995A>G	uc010eei.2	+	37	7775	c.7775A>G	c.(7774-7776)AAG>AGG	p.K2592R		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2592	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTTCTGTAAGCGCAACATC	0.587												
LRFN3	79414	broad.mit.edu	37	19	36430697	36430697	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36430697G>A	uc002oco.2	+	2	822	c.370G>A	c.(370-372)GAG>AAG	p.E124K		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	124	LRR 3.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCACTGGGCGAGGGCCAGCT	0.706												
HKR1	284459	broad.mit.edu	37	19	37854267	37854267	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:37854267C>T	uc002ogb.2	+	6	1839	c.1570C>T	c.(1570-1572)CCA>TCA	p.P524S	HKR1_uc002ofx.2_Missense_Mutation_p.P240S|HKR1_uc002ofy.2_Missense_Mutation_p.P240S|HKR1_uc002oga.2_Missense_Mutation_p.P506S|HKR1_uc010xto.1_Missense_Mutation_p.P506S|HKR1_uc002ogc.2_Missense_Mutation_p.P505S|HKR1_uc010xtp.1_Missense_Mutation_p.P463S|HKR1_uc002ogd.2_Missense_Mutation_p.P463S	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	524					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGGAGAAGCCATTTGTATG	0.517												
SIPA1L3	23094	broad.mit.edu	37	19	38573387	38573387	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:38573387C>T	uc002ohk.2	+	3	1691	c.1182C>T	c.(1180-1182)GGC>GGT	p.G394G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	394					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTCGGAGGCCTGGACCCGG	0.682												
CATSPERG	57828	broad.mit.edu	37	19	38850136	38850136	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:38850136T>G	uc002oih.3	+	14	1610	c.1523T>G	c.(1522-1524)CTG>CGG	p.L508R	CATSPERG_uc002oig.3_Missense_Mutation_p.L468R|CATSPERG_uc002oif.3_Missense_Mutation_p.L148R|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	508	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						TTCATCTACCTGGCAGACTTC	0.572												
RYR1	6261	broad.mit.edu	37	19	38948905	38948905	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:38948905G>A	uc002oit.2	+	18	2270	c.2140G>A	c.(2140-2142)GGC>AGC	p.G714S	RYR1_uc002oiu.2_Missense_Mutation_p.G714S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	714	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATTCCTACGGCTTTGATGG	0.637												
ACTN4	81	broad.mit.edu	37	19	39219655	39219655	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:39219655G>A	uc002oja.1	+	20	2497	c.2438G>A	c.(2437-2439)CGC>CAC	p.R813H	ACTN4_uc002ojb.1_Missense_Mutation_p.R135H	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	813	EF-hand 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGTTCAACCGCATCATGAGC	0.637												
PRX	57716	broad.mit.edu	37	19	40899951	40899951	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:40899951C>T	uc002onr.2	-	7	4577	c.4308G>A	c.(4306-4308)CGG>CGA	p.R1436R	PRX_uc002onq.2_Silent_p.R1297R|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1436					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCTGGGCAGCCGCACCCGCA	0.657												
LTBP4	8425	broad.mit.edu	37	19	41128322	41128322	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:41128322G>A	uc002ooh.1	+	27	3435	c.3435G>A	c.(3433-3435)TCG>TCA	p.S1145S	LTBP4_uc002oog.1_Silent_p.S1108S|LTBP4_uc002ooi.1_Silent_p.S1078S|LTBP4_uc002ooj.1_Silent_p.S18S|LTBP4_uc002ook.1_Silent_p.S279S|LTBP4_uc002ool.1_Silent_p.S157S|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1145	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCCAGGCTCGCAGCCCCAGG	0.677												
AXL	558	broad.mit.edu	37	19	41749584	41749584	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:41749584C>A	uc010ehj.2	+	12	1699	c.1509C>A	c.(1507-1509)TCC>TCA	p.S503S	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.S503S|AXL_uc010ehk.2_Silent_p.S494S	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	503	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TGCGCAAGTCCTACAGTCGTC	0.562												
CCDC97	90324	broad.mit.edu	37	19	41828591	41828591	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:41828591G>A	uc002oqg.2	+	5	1125	c.1003G>A	c.(1003-1005)GCG>ACG	p.A335T	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	335											0						ACCTGAGGATGCGCCCAGCCC	0.617												
ATP1A3	478	broad.mit.edu	37	19	42492119	42492119	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:42492119G>A	uc002osg.2	-	4	480	c.326C>T	c.(325-327)GCG>GTG	p.A109V	ATP1A3_uc010xwf.1_Missense_Mutation_p.A120V|ATP1A3_uc010xwg.1_Missense_Mutation_p.A79V|ATP1A3_uc010xwh.1_Missense_Mutation_p.A122V|ATP1A3_uc002osh.2_Missense_Mutation_p.A109V	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	109	Extracellular (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CTCGGTGCCCGCCTGGATACC	0.607												
MEGF8	1954	broad.mit.edu	37	19	42853697	42853697	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:42853697G>T	uc002otl.3	+	13	2779	c.2144G>T	c.(2143-2145)CGG>CTG	p.R715L	MEGF8_uc002otm.3_Missense_Mutation_p.R323L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	782	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GAGACGCGGCGGCTGCAGCGC	0.652												
PSG7	5676	broad.mit.edu	37	19	43430061	43430061	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:43430061A>G	uc002ovl.3	-	6	1209	c.1107T>C	c.(1105-1107)AAT>AAC	p.N369N	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Silent_p.N282N|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Silent_p.N95N|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.N282N|PSG7_uc010xwl.1_Silent_p.N247N	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	369	Ig-like C2-type 3.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GAAACTTCCCATTAATTGTCC	0.453												
ZNF221	7638	broad.mit.edu	37	19	44466912	44466912	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:44466912G>A	uc002oxx.2	+	3	362	c.34G>A	c.(34-36)GGA>AGA	p.G12R	ZNF221_uc010ejb.1_Missense_Mutation_p.G12R|ZNF221_uc010xws.1_Missense_Mutation_p.G12R	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				GCTTCATTCAGGACTCTGCAA	0.423												
APOE	348	broad.mit.edu	37	19	45412438	45412438	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:45412438C>T	uc002pab.2	+	4	968	c.885C>T	c.(883-885)GCC>GCT	p.A295A		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	295					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCCAGTGGGCCGGGCTGGTGG	0.692												
EHD2	30846	broad.mit.edu	37	19	48229320	48229320	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:48229320G>A	uc002phj.3	+	4	1004	c.754G>A	c.(754-756)GTC>ATC	p.V252I	EHD2_uc010xyu.1_Missense_Mutation_p.V116I|EHD2_uc010xyv.1_5'Flank	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	252					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GGTGCTGCGCGTCTACATCGG	0.677												
RPL18	6141	broad.mit.edu	37	19	49118647	49118647	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49118647G>A	uc002pjq.1	-	7	582	c.549C>T	c.(547-549)AGC>AGT	p.S183S	FAM83E_uc002pjn.2_5'Flank|RPL18_uc002pjp.1_Silent_p.S131S	NM_000979	NP_000970	Q07020	RL18_HUMAN	ribosomal protein L18	183					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		TGTAGCCTCGGCTGGCCCGTC	0.552												
BCAT2	587	broad.mit.edu	37	19	49299906	49299906	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49299906C>T	uc002pkr.2	-	9	1031	c.994G>A	c.(994-996)GTG>ATG	p.V332M	BCAT2_uc002pkp.2_Missense_Mutation_p.V292M|BCAT2_uc002pkq.3_Missense_Mutation_p.V292M|BCAT2_uc002pks.2_Missense_Mutation_p.V292M|BCAT2_uc002pkt.2_Missense_Mutation_p.V240M|BCAT2_uc010emh.1_Missense_Mutation_p.V332M|BCAT2_uc010emi.1_Missense_Mutation_p.V240M	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	332						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	ACTTCCCGCACGCGGCCCTCC	0.652												
GYS1	2997	broad.mit.edu	37	19	49494662	49494662	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49494662C>A	uc002plp.2	-	2	438	c.197G>T	c.(196-198)GGG>GTG	p.G66V	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.G66V|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	66					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGTGTACGGCCCCACCAGGAA	0.642												
PRR12	57479	broad.mit.edu	37	19	50099705	50099705	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:50099705C>T	uc002poo.3	+	4	2113	c.2113C>T	c.(2113-2115)CGC>TGC	p.R705C		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GAGTGTCATCCGCACCAGTGC	0.662												
PTOV1	53635	broad.mit.edu	37	19	50357780	50357780	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:50357780G>A	uc002pqf.1	+	2	459	c.289G>A	c.(289-291)GGC>AGC	p.G97S	uc002ppy.3_5'Flank|PTOV1_uc010ybf.1_Missense_Mutation_p.G65S|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.G65S|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGCTTGGAGCGGCGTCCTCGA	0.687												
FPR1	2357	broad.mit.edu	37	19	52249510	52249510	+	Silent	SNP	G	G	A	rs148898220		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:52249510G>A	uc002pxq.2	-	2	833	c.738C>T	c.(736-738)GTC>GTT	p.V246V		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	246	Helical; Name=6; (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGGCTGCTGCGACAAAGGAGA	0.493												
PRKCG	5582	broad.mit.edu	37	19	54395893	54395893	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:54395893G>T	uc002qcq.1	+	7	1099	c.817G>T	c.(817-819)GGC>TGC	p.G273C	PRKCG_uc010eqz.1_Missense_Mutation_p.G273C|PRKCG_uc010yef.1_Missense_Mutation_p.G273C|PRKCG_uc010yeg.1_Missense_Mutation_p.G273C|PRKCG_uc010yeh.1_Missense_Mutation_p.G160C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	273					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCCCGTGGATGGCTGGTGAGG	0.637												
CACNG7	59284	broad.mit.edu	37	19	54417817	54417817	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:54417817C>T	uc002qcr.1	+	2	275	c.260C>T	c.(259-261)ACG>ATG	p.T87M	CACNG7_uc010era.1_Missense_Mutation_p.T87M	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	87					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AATTTGGTGACGGAAAACACG	0.552												
LILRA2	11027	broad.mit.edu	37	19	55087402	55087402	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:55087402G>T	uc002qgg.3	+	6	1170	c.1081G>T	c.(1081-1083)GGC>TGC	p.G361C	LILRA2_uc010ern.2_Missense_Mutation_p.G361C|LILRA2_uc002qgf.2_Missense_Mutation_p.G361C|LILRA2_uc010yfe.1_Missense_Mutation_p.G361C|LILRA2_uc010yff.1_Missense_Mutation_p.G349C|LILRA2_uc010ero.2_Missense_Mutation_p.G349C|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	361	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GGAGGGGGCAGGCCATCCCCC	0.612												
LILRB1	10859	broad.mit.edu	37	19	55144041	55144041	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:55144041G>A	uc002qgj.2	+	7	1128	c.788G>A	c.(787-789)CGT>CAT	p.R263H	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.R263H|LILRB1_uc002qgk.2_Missense_Mutation_p.R263H|LILRB1_uc002qgm.2_Missense_Mutation_p.R263H|LILRB1_uc010erq.2_Missense_Mutation_p.R263H|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	263	Ig-like C2-type 3.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		GACGGGGAACGTGACTTCCTT	0.617										HNSCC(37;0.09)		
NLRP13	126204	broad.mit.edu	37	19	56413493	56413493	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:56413493G>A	uc010ygg.1	-	9	2722	c.2697C>T	c.(2695-2697)CAC>CAT	p.H899H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	899	LRR 4.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCAGATTCAGGTGTGTCAGGC	0.557												
ZIM2	23619	broad.mit.edu	37	19	57286450	57286450	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:57286450G>A	uc002qnr.2	-	11	1572	c.1190C>T	c.(1189-1191)GCG>GTG	p.A397V	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.A193V|ZIM2_uc010ygr.1_Missense_Mutation_p.A193V|ZIM2_uc002qnq.2_Missense_Mutation_p.A397V|ZIM2_uc010etp.2_Missense_Mutation_p.A397V|ZIM2_uc010ygs.1_Missense_Mutation_p.A397V	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACAGAGATTCGCACACTGGAC	0.458												
ZNF548	147694	broad.mit.edu	37	19	57910087	57910087	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:57910087C>A	uc002qom.2	+	3	682	c.432C>A	c.(430-432)CAC>CAA	p.H144Q	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.H147Q	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAGAACCACAGAGTTCACA	0.488												
ZSCAN4	201516	broad.mit.edu	37	19	58189949	58189949	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:58189949C>T	uc002qpu.2	+	5	1675	c.978C>T	c.(976-978)CAC>CAT	p.H326H		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	326	C2H2-type 1.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTCTGTCACTTATTAGCTC	0.438												
ZNF551	90233	broad.mit.edu	37	19	58198694	58198694	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:58198694A>G	uc002qpw.3	+	3	1226	c.1003A>G	c.(1003-1005)ATT>GTT	p.I335V	ZNF551_uc002qpv.3_Missense_Mutation_p.I278V|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	351	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCTAACCTCATTGAACACCA	0.453												
ZNF552	79818	broad.mit.edu	37	19	58319557	58319557	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:58319557T>G	uc002qqg.2	-	3	1245	c.1075A>C	c.(1075-1077)AAA>CAA	p.K359Q	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.K355Q	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	359	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GCAAAAGATTTCCCACATTCA	0.433												
KIDINS220	57498	broad.mit.edu	37	2	8919071	8919071	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:8919071C>T	uc002qzc.2	-	19	2751	c.2569G>A	c.(2569-2571)GTA>ATA	p.V857I	KIDINS220_uc010yiv.1_Missense_Mutation_p.V623I|KIDINS220_uc002qzd.2_Missense_Mutation_p.V815I|KIDINS220_uc010yiw.1_Missense_Mutation_p.V858I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	857	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCTGAAGTTACGAGAAATTTT	0.393												
ASXL2	55252	broad.mit.edu	37	2	25991624	25991624	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:25991624T>C	uc002rgs.2	-	6	839	c.618A>G	c.(616-618)GTA>GTG	p.V206V	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	206	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTGGCAGGTACAGAGTCAC	0.363												
GTF3C2	2976	broad.mit.edu	37	2	27560874	27560874	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:27560874T>C	uc002rjv.1	-	6	1232	c.869A>G	c.(868-870)CAC>CGC	p.H290R	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.H301R|GTF3C2_uc002rjw.1_Missense_Mutation_p.H290R|GTF3C2_uc010eyz.1_Missense_Mutation_p.H290R	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	290						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCGGCAGTGTGGTTTCTG	0.458												
EIF2B4	8890	broad.mit.edu	37	2	27591960	27591960	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:27591960C>T	uc002rkb.2	-	4	474	c.331G>A	c.(331-333)GAG>AAG	p.E111K	EIF2B4_uc002rjz.2_Missense_Mutation_p.E131K|EIF2B4_uc002rka.2_Missense_Mutation_p.E96K|EIF2B4_uc002rkc.2_Missense_Mutation_p.E110K|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.E80K|EIF2B4_uc002rkf.1_Missense_Mutation_p.E80K|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	111					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCCCGCTCGGCCTCCTGC	0.607												
HNRPLL	92906	broad.mit.edu	37	2	38818748	38818748	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:38818748C>T	uc002rqw.2	-	2	642	c.232G>A	c.(232-234)GTC>ATC	p.V78I	HNRPLL_uc002rqx.2_Missense_Mutation_p.V73I	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	78	RRM 1.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			skin(1)	1		all_hematologic(82;0.248)				CGAACATGGACGACGGGTGAA	0.383												
DHX57	90957	broad.mit.edu	37	2	39088771	39088771	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:39088771C>A	uc002rrf.2	-	5	880	c.781G>T	c.(781-783)GAA>TAA	p.E261*	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Nonsense_Mutation_p.E261*	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	261							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				ATAAATTTTTCTCCACAGATG	0.428												
SLC3A1	6519	broad.mit.edu	37	2	44547361	44547361	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:44547361G>A	uc002ruc.3	+	10	1719	c.1641G>A	c.(1639-1641)TCG>TCA	p.S547S	PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Silent_p.S269S|SLC3A1_uc002rue.3_Silent_p.S167S	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	547	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AGCCCAGATCGGCTTTGAAGT	0.348												
NRXN1	9378	broad.mit.edu	37	2	51254651	51254651	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:51254651T>C	uc010fbq.2	-	2	2238	c.761A>G	c.(760-762)GAC>GGC	p.D254G	NRXN1_uc002rxe.3_Missense_Mutation_p.D254G|NRXN1_uc002rxd.1_Missense_Mutation_p.D254G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGGCTGCAGTCCTTGCCGCG	0.721												
CHAC2	494143	broad.mit.edu	37	2	53999079	53999079	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:53999079G>T	uc002rxk.1	+	2	266	c.171G>T	c.(169-171)GCG>GCT	p.A57A	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	57											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAGATCCTGCGGTATGGtata	0.259												
ERLEC1	27248	broad.mit.edu	37	2	54023109	54023109	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:54023109C>A	uc002rxl.2	+	3	587	c.307C>A	c.(307-309)CTT>ATT	p.L103I	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.L103I|ERLEC1_uc002rxn.2_Missense_Mutation_p.L103I	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	103					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						TCCAAGAGAGCTTTTGGAGCC	0.343												
CCDC88A	55704	broad.mit.edu	37	2	55561433	55561433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:55561433G>A	uc002ryv.2	-	15	3366	c.2524C>T	c.(2524-2526)CGA>TGA	p.R842*	CCDC88A_uc010yoz.1_Nonsense_Mutation_p.R842*|CCDC88A_uc010ypa.1_Nonsense_Mutation_p.R842*|CCDC88A_uc010ypb.1_Nonsense_Mutation_p.R744*|CCDC88A_uc002ryu.2_Nonsense_Mutation_p.R125*|CCDC88A_uc002ryw.2_Nonsense_Mutation_p.R125*	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	842	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GCTTGTTGTCGGAGTCTCTTA	0.318												
SMEK2	57223	broad.mit.edu	37	2	55791531	55791531	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:55791531T>G	uc002rzc.2	-	15	2553	c.2178A>C	c.(2176-2178)AAA>AAC	p.K726N	SMEK2_uc002rzb.2_Missense_Mutation_p.K641N|SMEK2_uc002rzd.2_Missense_Mutation_p.K694N|SMEK2_uc002ryz.2_Missense_Mutation_p.K153N|SMEK2_uc002rza.2_Missense_Mutation_p.K510N	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	726						microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCACAACTGCTTTTCCTTCCT	0.358												
NAGK	55577	broad.mit.edu	37	2	71299880	71299880	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:71299880A>G	uc002shp.3	+	5	871	c.465A>G	c.(463-465)TCA>TCG	p.S155S	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Silent_p.S6S|NAGK_uc002shr.2_Silent_p.S104S	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	155					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	ATGAGGGTTCAGGTGAGCTCA	0.592												
CYP26B1	56603	broad.mit.edu	37	2	72360353	72360353	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:72360353G>A	uc002sih.1	-	5	945	c.945C>T	c.(943-945)CAC>CAT	p.H315H	CYP26B1_uc010yra.1_Silent_p.H298H|CYP26B1_uc010yrb.1_Silent_p.H240H	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	315					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						GCACAGTGGGGTGCTTCAGCA	0.657												
TET3	200424	broad.mit.edu	37	2	74317097	74317097	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:74317097A>G	uc002skb.3	+	5	2557	c.2557A>G	c.(2557-2559)ATG>GTG	p.M853V		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	853							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTCCTGGAGCATGTACTTCAA	0.592												
MOGS	7841	broad.mit.edu	37	2	74689670	74689670	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:74689670C>A	uc010ffj.2	-	4	1409	c.1246G>T	c.(1246-1248)GGG>TGG	p.G416W	MOGS_uc010ffh.2_Missense_Mutation_p.G141W|MOGS_uc010yrt.1_Missense_Mutation_p.G297W|MOGS_uc010ffi.2_Missense_Mutation_p.G310W	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	416	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						CCTTCCACCCCGATGTCTGGC	0.592												
LBX2	85474	broad.mit.edu	37	2	74725093	74725093	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:74725093C>T	uc002slv.3	-	2	563	c.558G>A	c.(556-558)CGG>CGA	p.R186R	LBX2_uc002slw.2_Silent_p.R182R	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ACAGGTGGGGCCGGGAGTCAG	0.677												
CNNM3	26505	broad.mit.edu	37	2	97494763	97494763	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:97494763C>A	uc002swy.2	+	7	1975	c.1951C>A	c.(1951-1953)CTG>ATG	p.L651M	CNNM3_uc002swz.2_Missense_Mutation_p.L603M	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	651					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						CAATGCACTCCTGGCTACCCG	0.577												
TBC1D8	11138	broad.mit.edu	37	2	101656773	101656773	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:101656773G>A	uc010fiv.2	-	6	1033	c.902C>T	c.(901-903)GCG>GTG	p.A301V	TBC1D8_uc010yvw.1_Missense_Mutation_p.A316V|TBC1D8_uc002tau.3_Missense_Mutation_p.A58V	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	301	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						GTCCACAACCGCGTGCAGCTT	0.577												
IL1R1	3554	broad.mit.edu	37	2	102781301	102781301	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:102781301C>T	uc002tbq.2	+	4	447	c.129C>T	c.(127-129)CCC>CCT	p.P43P	IL1R1_uc010fix.2_Silent_p.P43P|IL1R1_uc002tbp.2_Silent_p.P43P|IL1R1_uc002tbr.2_Silent_p.P43P	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	43	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)	ATGTTCGTCCCTGTCCTCTTA	0.373												
IL1RL1	9173	broad.mit.edu	37	2	102955439	102955439	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:102955439A>G	uc002tbu.1	+	3	475	c.204A>G	c.(202-204)TCA>TCG	p.S68S	IL1RL1_uc010ywa.1_Splice_Site|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Silent_p.S68S	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	68	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						TGTTTGCCTCAGGCCAACTTC	0.418												
RANBP2	5903	broad.mit.edu	37	2	109379767	109379767	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:109379767G>A	uc002tem.3	+	20	2898	c.2772G>A	c.(2770-2772)CCG>CCA	p.P924P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	924					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGCACACACCGCCAGTGCAAA	0.478												
EN1	2019	broad.mit.edu	37	2	119604484	119604484	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:119604484G>A	uc002tlm.2	-	1	1276	c.260C>T	c.(259-261)GCG>GTG	p.A87V		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	87					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						AGCAGGCGCCGCGAGATGCTG	0.348												
IWS1	55677	broad.mit.edu	37	2	128252455	128252455	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:128252455G>A	uc002ton.2	-	8	2095	c.1792C>T	c.(1792-1794)CTT>TTT	p.L598F	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	598					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TACTTCTTAAGGTGCATAACT	0.279												
SAP130	79595	broad.mit.edu	37	2	128775465	128775465	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:128775465G>T	uc002tpp.2	-	3	347	c.215C>A	c.(214-216)TCT>TAT	p.S72Y	SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.S72Y|SAP130_uc002tpq.1_Missense_Mutation_p.S46Y	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	72					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACTGACTTCAGAATCTCGACC	0.507												
PTPN18	26469	broad.mit.edu	37	2	131130739	131130739	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:131130739T>C	uc002trc.2	+	15	1426	c.1325T>C	c.(1324-1326)CTG>CCG	p.L442P	PTPN18_uc002trd.2_Missense_Mutation_p.L421P|PTPN18_uc002trb.2_Missense_Mutation_p.L335P|PTPN18_uc002tre.2_Missense_Mutation_p.L93P	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	442						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					GGTTTCAACCTGCGCATTGGG	0.622												
LRP1B	53353	broad.mit.edu	37	2	141458136	141458136	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:141458136C>T	uc002tvj.1	-	41	7454	c.6482G>A	c.(6481-6483)CGA>CAA	p.R2161Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2161	Extracellular (Potential).|EGF-like 5.				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)		GGAATTTCCTCGATAAAGACA	0.423										TSP Lung(27;0.18)		
RIF1	55183	broad.mit.edu	37	2	152273371	152273371	+	Silent	SNP	G	G	A	rs149505451	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:152273371G>A	uc002txm.2	+	6	589	c.459G>A	c.(457-459)ACG>ACA	p.T153T	RIF1_uc002txl.2_Silent_p.T153T|RIF1_uc010fnv.1_Silent_p.T117T|RIF1_uc002txn.2_Silent_p.T153T|RIF1_uc002txo.2_Silent_p.T153T|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	153					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGGAGAGACGCATTCTGCTG	0.299												
KCNJ3	3760	broad.mit.edu	37	2	155555820	155555820	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:155555820G>A	uc002tyv.1	+	1	728	c.533G>A	c.(532-534)GGC>GAC	p.G178D	KCNJ3_uc010zce.1_Missense_Mutation_p.G178D	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	178	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TTCCTCATCGGCTGCATGTTC	0.577												
NR4A2	4929	broad.mit.edu	37	2	157186121	157186121	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:157186121C>T	uc002tyz.3	-	3	1000	c.578G>A	c.(577-579)CGC>CAC	p.R193H	NR4A2_uc002tyx.3_Missense_Mutation_p.R130H|NR4A2_uc010zcf.1_Missense_Mutation_p.R193H|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	193	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						CCCGTCGAAGCGCATCTGGCA	0.647												
UPP2	151531	broad.mit.edu	37	2	158971760	158971760	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:158971760C>T	uc002tzp.2	+	3	522	c.328C>T	c.(328-330)CTC>TTC	p.L110F	UPP2_uc002tzo.2_Missense_Mutation_p.L167F	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	110					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						CGGGCCTGTGCTCGCCATCAG	0.448												
BAZ2B	29994	broad.mit.edu	37	2	160182228	160182228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:160182228G>A	uc002uao.2	-	35	6497	c.6145C>T	c.(6145-6147)CAA>TAA	p.Q2049*	BAZ2B_uc002uap.2_Nonsense_Mutation_p.Q2013*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2049					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						AAACTTTCTTGTTTTGACAAG	0.333												
SCN9A	6335	broad.mit.edu	37	2	167055891	167055891	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:167055891T>C	uc010fpl.2	-	27	5566	c.5225A>G	c.(5224-5226)AAC>AGC	p.N1742S	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1753	Helical; Name=S6 of repeat IV; (Potential).|IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AATGTACATGTTCACCACAAC	0.403												
SCN7A	6332	broad.mit.edu	37	2	167289041	167289041	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:167289041A>G	uc002udu.1	-	15	2506	c.2379T>C	c.(2377-2379)CAT>CAC	p.H793H	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	793					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						CAGAAAGGGTATGGTCAGAAA	0.358												
TTC30B	150737	broad.mit.edu	37	2	178416799	178416799	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:178416799A>G	uc002uln.2	-	1	726	c.693T>C	c.(691-693)ACT>ACC	p.T231T	TTC30B_uc010zfc.1_Silent_p.T3T	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	231					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CAATGCCCTCAGTGGTCATGC	0.512												
PDE11A	50940	broad.mit.edu	37	2	178937033	178937033	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:178937033C>A	uc002ulq.2	-	1	450	c.132G>T	c.(130-132)CAG>CAT	p.Q44H	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	44					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCCCCTGACCCTGACTGTGCC	0.567									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial			
TTN	7273	broad.mit.edu	37	2	179399703	179399703	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:179399703T>C	uc010zfg.1	-	307	94159	c.93935A>G	c.(93934-93936)GAA>GGA	p.E31312G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25007G|TTN_uc010zfi.1_Missense_Mutation_p.E24940G|TTN_uc010zfj.1_Missense_Mutation_p.E24815G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32239							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAATGATTCATGGAGGTG	0.338												
TTN	7273	broad.mit.edu	37	2	179435692	179435692	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:179435692G>A	uc010zfg.1	-	275	67687	c.67463C>T	c.(67462-67464)GCC>GTC	p.A22488V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A16183V|TTN_uc010zfi.1_Missense_Mutation_p.A16116V|TTN_uc010zfj.1_Missense_Mutation_p.A15991V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23415							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAAAACTGGCTTTCATCCA	0.433												
TTN	7273	broad.mit.edu	37	2	179543552	179543552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:179543552C>A	uc010zfg.1	-	140	30240	c.30016G>T	c.(30016-30018)GAA>TAA	p.E10006*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6667*|TTN_uc010fre.1_Nonsense_Mutation_p.E663*|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10933							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGCACTTCAGGAACTTCA	0.423												
TTN	7273	broad.mit.edu	37	2	179583588	179583588	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:179583588T>G	uc010zfg.1	-	81	20831	c.20607A>C	c.(20605-20607)AAA>AAC	p.K6869N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K3530N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7796							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTGCTGCCTTTAAACCACT	0.488												
NAB1	4664	broad.mit.edu	37	2	191524419	191524419	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:191524419C>T	uc002usb.2	+	4	1089	c.517C>T	c.(517-519)CTC>TTC	p.L173F	NAB1_uc010fsc.2_Missense_Mutation_p.L173F|NAB1_uc010fsd.2_Missense_Mutation_p.L173F|NAB1_uc002usc.2_Missense_Mutation_p.L173F|NAB1_uc010zgh.1_Missense_Mutation_p.L173F	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	173					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CGAGCACAGCCTCTCCCCAGC	0.632												
STAT1	6772	broad.mit.edu	37	2	191873701	191873701	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:191873701C>A	uc002usj.2	-	4	649	c.261G>T	c.(259-261)AAG>AAT	p.K87N	STAT1_uc010fse.1_Missense_Mutation_p.K87N|STAT1_uc002usk.2_Missense_Mutation_p.K87N|STAT1_uc002usl.2_Missense_Mutation_p.K89N|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	87					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAAGATTACGCTTGCTTTTCC	0.378												
HECW2	57520	broad.mit.edu	37	2	197185165	197185165	+	Splice_Site	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:197185165T>G	uc002utm.1	-	8	1068	c.885_splice	c.e8-1	p.G295_splice	HECW2_uc002utl.1_Intron	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						ATTTGATCACTGCAAGAAGAG	0.498												
CDK15	65061	broad.mit.edu	37	2	202671427	202671427	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:202671427T>C	uc002uyt.2	+	1	89	c.40T>C	c.(40-42)TGC>CGC	p.C14R	CDK15_uc010ftm.2_Intron|CDK15_uc002uys.2_Intron|CDK15_uc010ftn.1_Intron|CDK15_uc010fto.1_Missense_Mutation_p.C14R	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	14							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	ACAGCCTGGATGCAGCTGCTA	0.537												
PARD3B	117583	broad.mit.edu	37	2	206305215	206305215	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:206305215A>G	uc002var.1	+	20	3070	c.2863A>G	c.(2863-2865)AGA>GGA	p.R955G	PARD3B_uc002vao.1_Intron|PARD3B_uc002vap.1_Missense_Mutation_p.R893G|PARD3B_uc002vaq.1_Missense_Mutation_p.R886G	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	955					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAATTATGCCAGAGTGAACCA	0.478												
C2orf80	389073	broad.mit.edu	37	2	209035783	209035783	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:209035783G>A	uc002vcr.2	-	8	631	c.459C>T	c.(457-459)GTC>GTT	p.V153V		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	hypothetical protein LOC389073	153										skin(1)	1						TTCTTGACTTGACACCTACAG	0.328												
SPAG16	79582	broad.mit.edu	37	2	214149345	214149345	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:214149345T>C	uc002veq.2	+	1	228	c.136_splice	c.e1+2	p.Q46_splice	SPAG16_uc010fuz.1_Splice_Site|SPAG16_uc002ver.2_Splice_Site|SPAG16_uc010zjk.1_Splice_Site|SPAG16_uc002veo.2_Splice_Site_p.Q46_splice|SPAG16_uc002vep.1_Splice_Site_p.Q46_splice|SPAG16_uc002ves.1_5'UTR	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1						cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACCTGGAACGTATCCTTCCCG	0.706												
FN1	2335	broad.mit.edu	37	2	216262403	216262403	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:216262403G>A	uc002vfa.2	-	22	3783	c.3517C>T	c.(3517-3519)CCA>TCA	p.P1173S	FN1_uc002vfb.2_Missense_Mutation_p.P1173S|FN1_uc002vfc.2_Missense_Mutation_p.P1173S|FN1_uc002vfd.2_Missense_Mutation_p.P1173S|FN1_uc002vfe.2_Missense_Mutation_p.P1173S|FN1_uc002vff.2_Missense_Mutation_p.P1173S|FN1_uc002vfg.2_Missense_Mutation_p.P1173S|FN1_uc002vfh.2_Missense_Mutation_p.P1173S|FN1_uc002vfi.2_Missense_Mutation_p.P1173S|FN1_uc002vfj.2_Missense_Mutation_p.P1173S	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1173	Fibronectin type-III 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTTCTTACGTGTCACCACT	0.383												
MREG	55686	broad.mit.edu	37	2	216810377	216810377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:216810377G>A	uc002vfo.2	-	4	723	c.427C>T	c.(427-429)CGA>TGA	p.R143*	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	143						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		AACATCTCTCGAGCTTTCCTT	0.393												
TNS1	7145	broad.mit.edu	37	2	218674599	218674599	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:218674599G>A	uc002vgt.2	-	30	5306	c.4908C>T	c.(4906-4908)ATC>ATT	p.I1636I	TNS1_uc002vgr.2_Silent_p.I1622I|TNS1_uc002vgs.2_Silent_p.I1615I|TNS1_uc002vgq.2_Silent_p.I136I	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1636						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGAAGTGAACGATGGTGGCAG	0.562												
ARMC9	80210	broad.mit.edu	37	2	232123796	232123796	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:232123796T>C	uc002vrq.3	+	11	1119	c.1007T>C	c.(1006-1008)TTG>TCG	p.L336S	ARMC9_uc002vrp.3_Missense_Mutation_p.L336S	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	336							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AAAGCCTTCTTGTTGCAGGCT	0.438												
C2orf57	165100	broad.mit.edu	37	2	232458511	232458511	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:232458511C>T	uc002vrz.2	+	1	900	c.849C>T	c.(847-849)GGC>GGT	p.G283G		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	283										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TGGACAGGGGCGAGGGCTCCA	0.642												
NEU2	4759	broad.mit.edu	37	2	233897493	233897493	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:233897493G>A	uc010zmn.1	+	1	112	c.112G>A	c.(112-114)GCG>ACG	p.A38T		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	38							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCTGGCCTTCGCGGAACAGCG	0.622												
UGT1A4	54657	broad.mit.edu	37	2	234627599	234627599	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:234627599C>T	uc002vux.2	+	1	162	c.133C>T	c.(133-135)CGG>TGG	p.R45W	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.R45W	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	45					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	GCTCAGCATGCGGGAGGCCTT	0.607												
DNAJB3	414061	broad.mit.edu	37	2	234652144	234652144	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:234652144G>T	uc002vuz.2	-	1	518	c.419C>A	c.(418-420)CCT>CAT	p.P140H	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	140					protein folding		heat shock protein binding|unfolded protein binding				0						GCAGAGAAAAGGGGTGCAGAC	0.517												
TRPM8	79054	broad.mit.edu	37	2	234873391	234873391	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:234873391C>A	uc002vvh.2	+	14	1909	c.1869C>A	c.(1867-1869)ACC>ACA	p.T623T	TRPM8_uc010fyj.2_Silent_p.T311T	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	623	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGTACGAGACCCGGGCTGTTG	0.582												
ILKAP	80895	broad.mit.edu	37	2	239092729	239092729	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:239092729G>A	uc002vxv.2	-	7	688	c.558C>T	c.(556-558)ACC>ACT	p.T186T	ILKAP_uc010zns.1_Silent_p.T118T|ILKAP_uc002vxw.2_Silent_p.T66T|ILKAP_uc010znt.1_Silent_p.T66T	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	186	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATCTCTTCACGGTTTTCTCTA	0.393												
HDAC4	9759	broad.mit.edu	37	2	240056254	240056254	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:240056254G>A	uc002vyk.3	-	10	1856	c.1064C>T	c.(1063-1065)ACG>ATG	p.T355M	HDAC4_uc010fyz.1_Missense_Mutation_p.T350M|HDAC4_uc010zoa.1_Missense_Mutation_p.T350M|HDAC4_uc010fza.2_Missense_Mutation_p.T355M|HDAC4_uc010fyy.2_Missense_Mutation_p.T307M|HDAC4_uc010znz.1_Missense_Mutation_p.T238M|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	355					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CAGGCCCAGCGTGATGTTGGG	0.647												
AQP12B	653437	broad.mit.edu	37	2	241621893	241621893	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:241621893C>T	uc010fzj.2	-	1	425	c.362G>A	c.(361-363)GGC>GAC	p.G121D	AQP12B_uc002vzt.2_RNA	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	aquaporin 12B	109	Helical; Name=3; (Potential).					integral to membrane	transporter activity				0		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCCTGCATGCCCAGCCCCTG	0.701												
SNED1	25992	broad.mit.edu	37	2	242004785	242004785	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:242004785G>A	uc002wah.1	+	21	2784	c.2784G>A	c.(2782-2784)CCG>CCA	p.P928P	SNED1_uc002wai.1_Silent_p.P163P|SNED1_uc002waj.1_Silent_p.P15P|SNED1_uc002wak.2_Silent_p.P15P	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	928	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCTGGAACCCGCCCAATGGTC	0.612												
BOK	666	broad.mit.edu	37	2	242509686	242509686	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:242509686C>T	uc002wbq.2	+	4	742	c.496C>T	c.(496-498)CGG>TGG	p.R166W	BOK_uc002wbr.2_5'Flank	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	166	BH2.				activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		AACCTGGCTGCGGAGACGCgg	0.378												
SDCBP2	27111	broad.mit.edu	37	20	1291095	1291095	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:1291095G>A	uc002wev.3	-	9	998	c.869C>T	c.(868-870)CCA>CTA	p.P290L	SDCBP2_uc002weu.3_Missense_Mutation_p.P205L	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	290					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						TCAGGCATCTGGGATGGAGTG	0.637												
ATRN	8455	broad.mit.edu	37	20	3540127	3540127	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:3540127C>T	uc002wim.2	+	7	1290	c.1200C>T	c.(1198-1200)TAC>TAT	p.Y400Y	ATRN_uc002wil.2_Silent_p.Y400Y	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	400	Extracellular (Potential).|Kelch 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						TGGCATTATACAAGGTAAAGC	0.383												
CDS2	8760	broad.mit.edu	37	20	5167481	5167481	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:5167481G>A	uc002wls.2	+	10	1234	c.977G>A	c.(976-978)GGC>GAC	p.G326D	CDS2_uc002wlr.1_Missense_Mutation_p.G248D|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Missense_Mutation_p.G271D|CDS2_uc010zqu.1_Missense_Mutation_p.G206D|CDS2_uc002wlv.2_Missense_Mutation_p.G228D|CDS2_uc010zqv.1_Intron	NM_003818	NP_003809	O95674	CDS2_HUMAN	phosphatidate cytidylyltransferase 2	326					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity				0						TCAGTCATTGGCTGGGTATGT	0.547												
JAG1	182	broad.mit.edu	37	20	10629248	10629248	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:10629248G>A	uc002wnw.2	-	12	2034	c.1518C>T	c.(1516-1518)ATC>ATT	p.I506I	JAG1_uc010gcd.1_Silent_p.I64I	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	506	EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GGAATCTGTTGATTTCATTCT	0.507									Alagille_Syndrome			
KIF16B	55614	broad.mit.edu	37	20	16359706	16359706	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:16359706G>A	uc002wpg.1	-	19	3099	c.2941C>T	c.(2941-2943)CGT>TGT	p.R981C	KIF16B_uc002wpe.1_Missense_Mutation_p.R363C|KIF16B_uc002wpf.1_Missense_Mutation_p.R363C|KIF16B_uc010gch.1_Missense_Mutation_p.R981C|KIF16B_uc010gci.1_Missense_Mutation_p.R981C|KIF16B_uc010gcj.1_Missense_Mutation_p.R992C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	981	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCCTCCTGACGTGCAATGTTG	0.512												
CST7	8530	broad.mit.edu	37	20	24938043	24938043	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:24938043C>T	uc002wtx.1	+	2	467	c.257C>T	c.(256-258)ACG>ATG	p.T86M		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	64					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						AACAACTGCACGAACGACATG	0.493												
RALGAPB	57148	broad.mit.edu	37	20	37168534	37168534	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:37168534T>C	uc002xiw.2	+	17	2752	c.2495T>C	c.(2494-2496)ATG>ACG	p.M832T	RALGAPB_uc002xix.2_Missense_Mutation_p.M828T|RALGAPB_uc002xiy.1_Missense_Mutation_p.M832T|RALGAPB_uc002xiz.2_Missense_Mutation_p.M610T|RALGAPB_uc002xja.1_Missense_Mutation_p.M559T	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	832					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CTGCACTCCATGATAGTGGCA	0.453												
PPP1R16B	26051	broad.mit.edu	37	20	37464806	37464806	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:37464806G>A	uc002xje.2	+	2	427	c.238G>A	c.(238-240)GAC>AAC	p.D80N	PPP1R16B_uc010ggc.2_Missense_Mutation_p.D80N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	80					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GCTGAGGAACGACGCCGAGGA	0.652												
DHX35	60625	broad.mit.edu	37	20	37617501	37617501	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:37617501G>A	uc002xjh.2	+	5	402	c.391G>A	c.(391-393)GAG>AAG	p.E131K	DHX35_uc010zwa.1_5'UTR|DHX35_uc010zwb.1_5'UTR|DHX35_uc010zwc.1_Missense_Mutation_p.E100K	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	131	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GCTGGGCCACGAGGTGGGCTA	0.498												
MAFB	9935	broad.mit.edu	37	20	39317379	39317379	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:39317379G>A	uc002xji.2	-	1	498	c.112C>T	c.(112-114)CGC>TGC	p.R38C		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	38					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CGCTCCGCGCGCCCCAGTGGC	0.682			T	IGH@	MM							
PLCG1	5335	broad.mit.edu	37	20	39791907	39791907	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:39791907T>C	uc002xjp.1	+	8	902	c.781T>C	c.(781-783)TAC>CAC	p.Y261H	PLCG1_uc002xjo.1_Missense_Mutation_p.Y261H|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	261					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CCTTCTTGACTACCAGGGGGT	0.612												
PTPRT	11122	broad.mit.edu	37	20	40714411	40714411	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:40714411T>G	uc002xkg.2	-	28	4113	c.3929A>C	c.(3928-3930)GAG>GCG	p.E1310A	PTPRT_uc010ggj.2_Missense_Mutation_p.E1329A|PTPRT_uc010ggi.2_Missense_Mutation_p.E513A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1310	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATGATGTCCTCGTCGATGTC	0.562												
TOX2	84969	broad.mit.edu	37	20	42683112	42683112	+	Silent	SNP	C	C	T	rs138861548		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:42683112C>T	uc002xlf.3	+	5	869	c.852C>T	c.(850-852)GAC>GAT	p.D284D	TOX2_uc010ggo.2_Silent_p.D275D|TOX2_uc002xle.3_Silent_p.D233D|TOX2_uc010ggp.2_Silent_p.D233D|TOX2_uc002xlg.2_Silent_p.D233D|TOX2_uc010zwk.1_Silent_p.D153D	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	284	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTTTCGGTGACGTGTCCAAAA	0.592												
KCNS1	3787	broad.mit.edu	37	20	43726361	43726361	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:43726361C>T	uc002xnc.2	-	4	1449	c.1052G>A	c.(1051-1053)CGC>CAC	p.R351H	KCNS1_uc002xnd.2_Missense_Mutation_p.R351H	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	351	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CTTGAGTACGCGGAAGATGCG	0.682												
WFDC6	140870	broad.mit.edu	37	20	44167994	44167994	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:44167994T>C	uc002xos.1	-	1	141	c.53A>G	c.(52-54)GAC>GGC	p.D18G	SPINLW1_uc010zxc.1_Intron	NM_080827	NP_543017	Q9BQY6	WFDC6_HUMAN	WAP four-disulfide core domain 6 precursor	18						extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				TTCCTGGATGTCCCCCAAAAG	0.512												
ZNF335	63925	broad.mit.edu	37	20	44586250	44586250	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:44586250C>T	uc002xqw.2	-	17	2540	c.2417G>A	c.(2416-2418)CGG>CAG	p.R806Q	ZNF335_uc002xqv.2_5'Flank|ZNF335_uc010zxk.1_Missense_Mutation_p.R651Q	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CCCCAGTTCCCGCTGAGCACT	0.488												
PREX1	57580	broad.mit.edu	37	20	47317421	47317421	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:47317421A>G	uc002xtw.1	-	7	810	c.787T>C	c.(787-789)TCC>CCC	p.S263P		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	263					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTGAGGTTGGAACCCTGGAAG	0.532												
ATP9A	10079	broad.mit.edu	37	20	50273655	50273655	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:50273655G>A	uc002xwg.1	-	14	1328	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	ATP9A_uc010gih.1_Missense_Mutation_p.T307M|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	443	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						AGTGGTGAGCGTTGGGCCCTT	0.577												
SALL4	57167	broad.mit.edu	37	20	50406893	50406893	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:50406893G>A	uc002xwh.3	-	2	2230	c.2129C>T	c.(2128-2130)ACG>ATG	p.T710M	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	710					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGGAAGAGGCGTGGGGACCTT	0.587												
BCAS1	8537	broad.mit.edu	37	20	52645067	52645067	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:52645067T>C	uc002xws.2	-	4	925	c.587A>G	c.(586-588)AAA>AGA	p.K196R	BCAS1_uc010zzb.1_Missense_Mutation_p.K99R|BCAS1_uc010gim.2_Missense_Mutation_p.K99R|BCAS1_uc002xwt.2_Missense_Mutation_p.K196R|BCAS1_uc010gil.1_Missense_Mutation_p.K196R|BCAS1_uc010zzc.1_Missense_Mutation_p.K99R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	196						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTGAAGAATTTGTCAAAAAA	0.572												
CDH4	1002	broad.mit.edu	37	20	60498761	60498761	+	Silent	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:60498761A>C	uc002ybn.1	+	10	1641	c.1627A>C	c.(1627-1629)AGA>CGA	p.R543R	CDH4_uc002ybp.1_Silent_p.R469R	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	543	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAGGCTGTGAGGTGGGTGCA	0.607												
LSM14B	149986	broad.mit.edu	37	20	60704949	60704949	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:60704949G>A	uc010gjy.1	+	4	742	c.536G>A	c.(535-537)GGC>GAC	p.G179D	LSM14B_uc010gjx.1_Missense_Mutation_p.G205D|LSM14B_uc002ybv.2_Missense_Mutation_p.G179D|LSM14B_uc010gjz.1_Missense_Mutation_p.G135D|LSM14B_uc010zzz.1_Missense_Mutation_p.G99D	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	179					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCTGGCAAGGGCACCACAGGG	0.557												
DIDO1	11083	broad.mit.edu	37	20	61511147	61511147	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:61511147G>A	uc002ydr.1	-	16	6425	c.6161C>T	c.(6160-6162)GCG>GTG	p.A2054V	DIDO1_uc002yds.1_Missense_Mutation_p.A2054V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2054					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTGTCCGGGCGCACTGGAGGA	0.716												
YTHDF1	54915	broad.mit.edu	37	20	61833843	61833843	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:61833843A>G	uc002yeh.2	-	4	1743	c.1449T>C	c.(1447-1449)GAT>GAC	p.D483D	YTHDF1_uc011aaq.1_Silent_p.D433D	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	483	YTH.									ovary(2)	2						TATTGGGTACATCCTTAACAA	0.542												
OPRL1	4987	broad.mit.edu	37	20	62729906	62729906	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:62729906G>A	uc002yic.2	+	5	1269	c.867G>A	c.(865-867)GGG>GGA	p.G289G	OPRL1_uc002yid.2_Silent_p.G289G|OPRL1_uc002yif.3_Silent_p.G284G	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	289	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AAGGGCTGGGGGTTCAGCCGA	0.657												
NRIP1	8204	broad.mit.edu	37	21	16339973	16339973	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:16339973C>T	uc002yjx.2	-	4	1139	c.541G>A	c.(541-543)GCA>ACA	p.A181T		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	181	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGACTTGATGCAACACCATAG	0.388												
USP25	29761	broad.mit.edu	37	21	17205809	17205809	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:17205809G>A	uc002yjy.1	+	17	2353	c.2136G>A	c.(2134-2136)TTG>TTA	p.L712L	USP25_uc011aby.1_Silent_p.L712L|USP25_uc002yjz.1_Silent_p.L712L|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	712	Potential.				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGAAAGCTTTGCAGGAAAAGC	0.368												
ADAMTS1	9510	broad.mit.edu	37	21	28214913	28214913	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:28214913G>A	uc002ymf.2	-	2	1277	c.822C>T	c.(820-822)CAC>CAT	p.H274H		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	274	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GACCACTGCCGTGGAATTCTG	0.483												
HUNK	30811	broad.mit.edu	37	21	33370854	33370854	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:33370854G>A	uc002yph.2	+	11	1862	c.1502G>A	c.(1501-1503)CGC>CAC	p.R501H		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	501					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						TTTGGCTGCCGCAATATTTTC	0.527												
CRYZL1	9946	broad.mit.edu	37	21	34997046	34997046	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:34997046C>T	uc011adw.1	-	3	267	c.87G>A	c.(85-87)GAG>GAA	p.E29E	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Silent_p.E53E|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Silent_p.E29E	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	29					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						CAAAGTTATCCTCTGTAACAG	0.308												
ABCG1	9619	broad.mit.edu	37	21	43691237	43691237	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:43691237C>T	uc002zaq.2	+	3	450	c.344C>T	c.(343-345)GCC>GTC	p.A115V	ABCG1_uc002zan.2_Missense_Mutation_p.A117V|ABCG1_uc002zam.2_Missense_Mutation_p.A93V|ABCG1_uc002zao.2_Missense_Mutation_p.A112V|ABCG1_uc002zap.2_Missense_Mutation_p.A115V|ABCG1_uc002zar.2_Missense_Mutation_p.A126V|ABCG1_uc011aev.1_Missense_Mutation_p.A126V	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	115	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	GAGTTGGTGGCCATTATGGGT	0.502												
POFUT2	23275	broad.mit.edu	37	21	46705687	46705687	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:46705687G>A	uc002zhc.2	-	2	313	c.288C>T	c.(286-288)GAC>GAT	p.D96D	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.D96D|POFUT2_uc011afp.1_Silent_p.D96D|POFUT2_uc011afq.1_Silent_p.D96D|LOC642852_uc002zhf.2_5'Flank	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	96					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		CCTGGTGGATGTCAGGACTCT	0.532												
COL6A1	1291	broad.mit.edu	37	21	47419132	47419132	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:47419132G>T	uc002zhu.1	+	26	1842	c.1740G>T	c.(1738-1740)CAG>CAT	p.Q580H	COL6A1_uc010gqd.1_Translation_Start_Site|COL6A1_uc002zhv.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	580	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGCCCCCAGGTGGGTGGAT	0.652												
PRMT2	3275	broad.mit.edu	37	21	48078788	48078788	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:48078788G>A	uc002zjx.2	+	8	1100	c.786G>A	c.(784-786)GTG>GTA	p.V262V	PRMT2_uc002zjw.2_Silent_p.V262V|PRMT2_uc002zjy.2_Silent_p.V262V|PRMT2_uc010gqm.2_Intron|PRMT2_uc011aga.1_Intron|PRMT2_uc011agb.1_Silent_p.V262V|PRMT2_uc011agc.1_Intron|PRMT2_uc002zjz.1_Silent_p.V148V	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	262	Interaction with ESR1.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GTAGCAAGGTGCTCTTCTGGG	0.592												
DGCR8	54487	broad.mit.edu	37	22	20094884	20094884	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:20094884G>A	uc002zri.2	+	12	2437	c.2087G>A	c.(2086-2088)CGC>CAC	p.R696H	DGCR8_uc010grz.2_Missense_Mutation_p.R663H|DGCR8_uc002zrj.2_Missense_Mutation_p.R339H	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	696	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					TCTTTACTGCGCATGTATGGC	0.547												
ZDHHC8	29801	broad.mit.edu	37	22	20131022	20131022	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:20131022C>A	uc002zrq.2	+	10	1975	c.1869C>A	c.(1867-1869)GCC>GCA	p.A623A	ZDHHC8_uc002zrr.1_Silent_p.A623A|ZDHHC8_uc010gsa.2_Silent_p.A429A	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	623	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					GCAACCCTGCCCTGCAGACGT	0.711												
SUSD2	56241	broad.mit.edu	37	22	24584203	24584203	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:24584203C>T	uc002zzn.1	+	14	2396	c.2352C>T	c.(2350-2352)TAC>TAT	p.Y784Y		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	784	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GACGCAGCTACGCGGTGCTGT	0.652												
MYO18B	84700	broad.mit.edu	37	22	26193919	26193919	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:26193919G>T	uc003abz.1	+	12	2627	c.2377_splice	c.e12-1	p.P793_splice	MYO18B_uc003aca.1_Splice_Site_p.P674_splice|MYO18B_uc010guy.1_Splice_Site_p.P674_splice|MYO18B_uc010guz.1_Splice_Site_p.P674_splice|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Splice_Site_p.P306_splice	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB							nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TTTGCCCGCAGCCTGAAGATA	0.582												
MTMR3	8897	broad.mit.edu	37	22	30403965	30403965	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:30403965G>A	uc003agv.3	+	11	1281	c.953G>A	c.(952-954)CGC>CAC	p.R318H	MTMR3_uc003agu.3_Missense_Mutation_p.R318H|MTMR3_uc003agw.3_Missense_Mutation_p.R318H	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	318	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTGGATGCACGCTCCTATGCA	0.522												
TRIOBP	11078	broad.mit.edu	37	22	38131430	38131430	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:38131430C>A	uc003atr.2	+	9	5358	c.5087C>A	c.(5086-5088)CCC>CAC	p.P1696H	TRIOBP_uc003atu.2_Missense_Mutation_p.P1524H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1696					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GCGAAGGGCCCCAGCTTGCCA	0.617											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC16A8	23539	broad.mit.edu	37	22	38476959	38476959	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:38476959C>T	uc003auu.2	-	4	1216	c.1086G>A	c.(1084-1086)GCG>GCA	p.A362A		NM_013356	NP_037488	O95907	MOT3_HUMAN	solute carrier family 16, member 8	362	Helical; (Potential).				blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity				0	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CGAACTGCAGCGCGCCCACCA	0.711												
TMEM184B	25829	broad.mit.edu	37	22	38621509	38621509	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:38621509G>A	uc003avf.1	-	7	933	c.709C>T	c.(709-711)CGG>TGG	p.R237W	TMEM184B_uc003avg.1_Missense_Mutation_p.R237W|TMEM184B_uc003avh.1_Missense_Mutation_p.R171W|TMEM184B_uc010gxl.1_RNA	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	237						integral to membrane					0	Melanoma(58;0.045)					AGCAGCTCCCGGGTGGCGAAG	0.592												
SCUBE1	80274	broad.mit.edu	37	22	43610096	43610096	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:43610096C>A	uc003bdt.1	-	16	2141	c.2053G>T	c.(2053-2055)GGC>TGC	p.G685C		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	685					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CCGCACTTGCCTCCACATTCC	0.657												
WNT7B	7477	broad.mit.edu	37	22	46345856	46345856	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:46345856C>T	uc003bgo.2	-	2	616	c.242G>A	c.(241-243)CGC>CAC	p.R81H	WNT7B_uc010haa.2_Missense_Mutation_p.R85H	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	81					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGTTCCAGCGTCCGAAGCG	0.637												
ALG12	79087	broad.mit.edu	37	22	50297834	50297834	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:50297834C>T	uc003biy.2	-	9	1505	c.1231G>A	c.(1231-1233)GCC>ACC	p.A411T		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	411					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TACCTCCAGGCGCTGTTGACT	0.657												
C3orf32	51066	broad.mit.edu	37	3	8675523	8675523	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:8675523G>A	uc003bqu.2	-	4	348	c.102C>T	c.(100-102)GGC>GGT	p.G34G	C3orf32_uc003bqz.2_Silent_p.G34G|C3orf32_uc003bqt.2_Intron|C3orf32_uc011atg.1_Intron|C3orf32_uc003bqv.2_Intron|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_Intron|C3orf32_uc003bqy.2_Silent_p.G34G	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	34										skin(1)	1						TCTGGGAAGGGCCTGTGGACT	0.647												
CAND2	23066	broad.mit.edu	37	3	12867068	12867068	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:12867068G>A	uc003bxk.2	+	12	3189	c.3140G>A	c.(3139-3141)CGG>CAG	p.R1047Q	CAND2_uc003bxj.2_Missense_Mutation_p.R930Q	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	1047					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TCGCTAGTCCGGGACCTGCTG	0.612												
NKIRAS1	28512	broad.mit.edu	37	3	23952392	23952392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:23952392C>A	uc003ccj.2	-	3	406	c.4G>T	c.(4-6)GGA>TGA	p.G2*	NKIRAS1_uc003cck.2_Nonsense_Mutation_p.G2*|NKIRAS1_uc003ccl.2_Nonsense_Mutation_p.G2*|NKIRAS1_uc003ccm.2_Nonsense_Mutation_p.G2*	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	kappa B-ras 1	2					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity				0						CAGCCCTTTCCCATCTTCTCT	0.353												
DYNC1LI1	51143	broad.mit.edu	37	3	32612171	32612171	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:32612171G>A	uc003cfb.3	-	1	180	c.92C>T	c.(91-93)GCG>GTG	p.A31V	DYNC1LI1_uc011axh.1_Missense_Mutation_p.A31V	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	31					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						GTTGCCCGACGCTATCTCGTT	0.682												
LRRFIP2	9209	broad.mit.edu	37	3	37149577	37149577	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:37149577C>T	uc003cgp.2	-	14	1124	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	LRRFIP2_uc011ayf.1_Intron|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	234	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						TGGACTGCTTCGGGCTGAACT	0.368												
DLEC1	9940	broad.mit.edu	37	3	38163221	38163221	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:38163221G>A	uc003cho.1	+	35	4990	c.4969G>A	c.(4969-4971)GTC>ATC	p.V1657I	DLEC1_uc003chp.1_Missense_Mutation_p.V1657I|DLEC1_uc010hgv.1_Missense_Mutation_p.V1660I|DLEC1_uc003chr.1_Missense_Mutation_p.V728I|DLEC1_uc003chs.1_Missense_Mutation_p.V214I	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1657					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGTCCGGGAGGTCTACCTGAT	0.637												
KBTBD5	131377	broad.mit.edu	37	3	42727728	42727728	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:42727728C>T	uc003clv.1	+	1	718	c.618C>T	c.(616-618)GAC>GAT	p.D206D		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	206	BACK.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTAGCGGCGACGCCGAGGCGC	0.701												
KIAA1143	57456	broad.mit.edu	37	3	44795024	44795024	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:44795024C>T	uc011bac.1	-	3	353	c.274G>A	c.(274-276)GAT>AAT	p.D92N		NM_020696	NP_065747	Q96AT1	K1143_HUMAN	hypothetical protein LOC57456	92											0				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		ATTCTTCCATCGGCTGGAGTT	0.343												
CDCP1	64866	broad.mit.edu	37	3	45136923	45136923	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:45136923T>C	uc003com.2	-	5	1297	c.1162A>G	c.(1162-1164)ACC>GCC	p.T388A		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	388	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GATGTCAGGGTGAGGTTGCTA	0.502												
FYCO1	79443	broad.mit.edu	37	3	45965194	45965194	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:45965194G>A	uc003cpb.3	-	17	4521	c.4315C>T	c.(4315-4317)CGC>TGC	p.R1439C	FYCO1_uc011bal.1_Missense_Mutation_p.R1459C	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1439	GOLD.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCGGGTGTGCGAACCTTGAGC	0.557												
PTPN23	25930	broad.mit.edu	37	3	47453790	47453790	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:47453790C>T	uc003crf.1	+	23	4292	c.4196C>T	c.(4195-4197)ACG>ATG	p.T1399M	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.T1269M|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1399	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGGGCCGCACGGGAGCCTTT	0.632												
DHX30	22907	broad.mit.edu	37	3	47882645	47882645	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:47882645C>A	uc003cru.2	+	7	1071	c.645C>A	c.(643-645)TCC>TCA	p.S215S	DHX30_uc003crs.2_Silent_p.S176S|DHX30_uc003crt.2_Silent_p.S176S|DHX30_uc010hjr.1_Silent_p.S243S	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	215						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGCAGGATTCCCACGCTCCAC	0.567												
CELSR3	1951	broad.mit.edu	37	3	48698423	48698423	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:48698423G>A	uc003cul.2	-	1	1926	c.1645C>T	c.(1645-1647)CGC>TGC	p.R549C	CELSR3_uc003cuf.1_Missense_Mutation_p.R619C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	549	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACGTAGCGCTTCTCGCTG	0.647												
BSN	8927	broad.mit.edu	37	3	49691512	49691512	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:49691512C>T	uc003cxe.3	+	5	4637	c.4523C>T	c.(4522-4524)ACG>ATG	p.T1508M		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTACACAGACGCCAAGTCCA	0.622												
CAMKV	79012	broad.mit.edu	37	3	49899527	49899527	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:49899527C>T	uc003cxt.1	-	3	371	c.178G>A	c.(178-180)GGC>AGC	p.G60S	CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Missense_Mutation_p.G60S|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.G60S|CAMKV_uc011bcz.1_Silent_p.T36T|CAMKV_uc011bda.1_Missense_Mutation_p.G60S|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	60	Protein kinase.		G -> S (in an ovarian serous carcinoma sample; somatic mutation).			cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.G60S(1)		ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACCTTGCGGCCGTCCCGCTTC	0.597												
GNAT1	2779	broad.mit.edu	37	3	50231088	50231088	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:50231088G>A	uc003cym.2	+	4	557	c.441G>A	c.(439-441)TCG>TCA	p.S147S	GNAT1_uc003cyl.2_Silent_p.S147S	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	147					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCAACGACTCGGCGGGCTAGT	0.498												
RAD54L2	23132	broad.mit.edu	37	3	51696873	51696873	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:51696873G>A	uc011bdt.1	+	22	3966	c.3841G>A	c.(3841-3843)GTG>ATG	p.V1281M	RAD54L2_uc003dbh.2_Missense_Mutation_p.V870M|RAD54L2_uc011bdu.1_Missense_Mutation_p.V975M|RAD54L2_uc003dbj.2_Missense_Mutation_p.V607M	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1281						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCAGCCCCCGTGCAGCCGTA	0.622												
STAB1	23166	broad.mit.edu	37	3	52539377	52539377	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:52539377C>T	uc003dej.2	+	14	1635	c.1561C>T	c.(1561-1563)CGC>TGC	p.R521C	STAB1_uc003dei.1_Missense_Mutation_p.R521C	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	521	Extracellular (Potential).|FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCCTTCAGCCGCTTTGAAAC	0.597												
ITIH4	3700	broad.mit.edu	37	3	52850920	52850920	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:52850920C>T	uc003dfz.2	-	21	2487	c.2451G>A	c.(2449-2451)ACG>ACA	p.T817T	ITIH4_uc011bel.1_Silent_p.T531T|ITIH4_uc003dfy.2_Silent_p.T612T|ITIH4_uc011bem.1_Silent_p.T822T|ITIH4_uc011ben.1_Silent_p.T787T	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	817				ET -> QR (in Ref. 5; AA sequence).	acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGAGAATAGCGTCTCCTTCC	0.587												
RFT1	91869	broad.mit.edu	37	3	53126559	53126559	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:53126559G>A	uc003dgj.2	-	12	1338	c.1284C>T	c.(1282-1284)AGC>AGT	p.S428S	RFT1_uc003dgk.2_Silent_p.S389S	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	428	Helical; (Potential).				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TGAAGCCCACGCTGCCACACC	0.557												
ACTR8	93973	broad.mit.edu	37	3	53906528	53906528	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:53906528G>A	uc003dhd.2	-	10	1244	c.1185C>T	c.(1183-1185)CCC>CCT	p.P395P	ACTR8_uc003dhb.2_Silent_p.P100P|ACTR8_uc003dhc.2_Silent_p.P284P	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	395					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CAAAAGTTGCGGGGTAAAACA	0.438												
ARF4	378	broad.mit.edu	37	3	57582804	57582804	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:57582804T>C	uc003dix.3	-	1	412	c.64A>G	c.(64-66)ATG>GTG	p.M22V	ARF4_uc003diy.3_RNA|ARF4_uc010hnd.2_Missense_Mutation_p.M22V|ARF4_uc003diz.3_RNA	NM_001660	NP_001651	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	22					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		CACTCACCCATCAAAATGCGC	0.587												
FLNB	2317	broad.mit.edu	37	3	58109159	58109159	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:58109159G>A	uc003djj.2	+	21	3631	c.3466G>A	c.(3466-3468)GTC>ATC	p.V1156I	FLNB_uc010hne.2_Missense_Mutation_p.V1156I|FLNB_uc003djk.2_Missense_Mutation_p.V1156I|FLNB_uc010hnf.2_Missense_Mutation_p.V1156I|FLNB_uc003djl.2_Missense_Mutation_p.V987I|FLNB_uc003djm.2_Missense_Mutation_p.V987I	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1156	Interaction with FBLP1.|Filamin 10.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTCCTTAGCGTCGACTGCTC	0.582												
FAM3D	131177	broad.mit.edu	37	3	58620027	58620027	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:58620027G>A	uc003dkq.2	-	10	951	c.654C>T	c.(652-654)TGC>TGT	p.C218C		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	218					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TCGGGGGCATGCAGCCCTCCA	0.552												
SLC25A26	115286	broad.mit.edu	37	3	66293695	66293695	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:66293695A>T	uc011bfq.1	+	4	987	c.259A>T	c.(259-261)ACA>TCA	p.T87S	SLC25A26_uc011bfs.1_5'UTR|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.T87S|SLC25A26_uc003dmt.2_5'UTR	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	87	Solcar 2.|Helical; Name=3; (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TTCATATTTGACACCTATGAA	0.343												
FOXP1	27086	broad.mit.edu	37	3	71090609	71090609	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:71090609T>C	uc003dol.2	-	7	1062	c.739A>G	c.(739-741)AAC>GAC	p.N247D	FOXP1_uc003dom.2_Missense_Mutation_p.N171D|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.N247D|FOXP1_uc003dop.2_Missense_Mutation_p.N247D|FOXP1_uc003doq.1_Missense_Mutation_p.N246D|FOXP1_uc003doi.2_Missense_Mutation_p.N147D|FOXP1_uc003doj.2_Missense_Mutation_p.N147D|FOXP1_uc003dok.2_Missense_Mutation_p.N60D|FOXP1_uc003dor.1_Missense_Mutation_p.N25D	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	247					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGTGATTGTTGCCTGTGGTT	0.448			T	PAX5	ALL							
PROS1	5627	broad.mit.edu	37	3	93605255	93605255	+	Silent	SNP	C	C	T	rs148869673	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:93605255C>T	uc003drb.3	-	11	1589	c.1248G>A	c.(1246-1248)CCG>CCA	p.P416P	PROS1_uc010hoo.2_Silent_p.P285P|PROS1_uc003dqz.3_Silent_p.P285P	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	416	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATCCATTTTCCGGCTTAAAAA	0.373												
EPHA6	285220	broad.mit.edu	37	3	96706798	96706798	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:96706798T>C	uc010how.1	+	3	1118	c.1075T>C	c.(1075-1077)TGC>CGC	p.C359R	EPHA6_uc003drp.1_Missense_Mutation_p.C359R	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	264	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						AAGGTGCATCTGCAGTACAGG	0.378												
IMPG2	50939	broad.mit.edu	37	3	100964796	100964796	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:100964796C>T	uc003duq.1	-	12	1596	c.1393G>A	c.(1393-1395)GCC>ACC	p.A465T	IMPG2_uc011bhe.1_Missense_Mutation_p.A328T	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	465	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAGGGAAAGGCTAATTTGTGT	0.507												
CASR	846	broad.mit.edu	37	3	121981056	121981056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:121981056C>T	uc003eev.3	+	4	1546	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*	CASR_uc003eew.3_Nonsense_Mutation_p.R392*	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	392	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GACAGCCTTCCGACCCCTCTG	0.493												
EEFSEC	60678	broad.mit.edu	37	3	127983467	127983467	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:127983467C>T	uc003eki.2	+	4	667	c.629C>T	c.(628-630)ACG>ATG	p.T210M	EEFSEC_uc003ekj.2_Intron	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	210						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						TAGCTCCTGACGTCCCAGATT	0.567												
KIAA1257	57501	broad.mit.edu	37	3	128696934	128696934	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:128696934C>T	uc003elj.3	-	5	958	c.762G>A	c.(760-762)CCG>CCA	p.P254P	KIAA1257_uc003elg.1_Silent_p.P254P|KIAA1257_uc003eli.3_Silent_p.P142P	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	254											0						GTTTTCCTGGCGGATGTTCCT	0.433												
COL6A6	131873	broad.mit.edu	37	3	130377519	130377519	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:130377519G>T	uc010htl.2	+	33	5765	c.5734_splice	c.e33-1	p.I1912_splice	COL6A6_uc003eni.3_Splice_Site_p.I11_splice	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor						axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GCTTCTTTTAGATTGACGACA	0.478												
MSL2	55167	broad.mit.edu	37	3	135871069	135871069	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:135871069A>G	uc003eqx.1	-	2	1387	c.654T>C	c.(652-654)ATT>ATC	p.I218I	MSL2_uc011bmb.1_Silent_p.I144I	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	218					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TACATACGTCAATCGTATTTG	0.393												
SPSB4	92369	broad.mit.edu	37	3	140785540	140785540	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:140785540C>T	uc003ett.2	+	2	848	c.594C>T	c.(592-594)GGC>GGT	p.G198G	SPSB4_uc010hum.2_Silent_p.G198G	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	198	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						AGTACCTGGGCGTGGCCTTCC	0.632												
TRPC1	7220	broad.mit.edu	37	3	142467219	142467219	+	Silent	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:142467219A>T	uc003evc.2	+	4	685	c.549A>T	c.(547-549)GTA>GTT	p.V183V	TRPC1_uc003evb.2_Silent_p.V149V	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	183	Cytoplasmic (Potential).|ANK 4.				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AACAGGATGTATCTCTACCCA	0.398												
IGSF10	285313	broad.mit.edu	37	3	151171285	151171285	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:151171285G>T	uc011bod.1	-	3	602	c.602C>A	c.(601-603)CCT>CAT	p.P201H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	201	LRR 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATCTCTTGAGGGAGGGAGGT	0.433												
PLCH1	23007	broad.mit.edu	37	3	155200527	155200527	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:155200527A>G	uc011bok.1	-	23	3589	c.3312T>C	c.(3310-3312)GGT>GGC	p.G1104G	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.G1066G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1104					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGATTTTCACACCATGCAGAT	0.473												
IL12A	3592	broad.mit.edu	37	3	159713213	159713213	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:159713213C>T	uc003fcx.2	+	7	844	c.629C>T	c.(628-630)ACT>ATT	p.T210I	uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	interleukin 12A precursor	176					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAGTGAGACTGTGCCACAA	0.368												
SLC7A14	57709	broad.mit.edu	37	3	170216628	170216628	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:170216628G>A	uc003fgz.2	-	4	903	c.587C>T	c.(586-588)GCG>GTG	p.A196V	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	196	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CACGATGACCGCGATCAACAG	0.473												
ECT2	1894	broad.mit.edu	37	3	172520688	172520688	+	Missense_Mutation	SNP	G	G	A	rs146823982		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:172520688G>A	uc003fii.2	+	19	2069	c.1931G>A	c.(1930-1932)CGG>CAG	p.R644Q	ECT2_uc010hwv.1_Missense_Mutation_p.R675Q|ECT2_uc003fih.2_Missense_Mutation_p.R643Q|ECT2_uc003fij.1_Missense_Mutation_p.R644Q|ECT2_uc003fik.1_Missense_Mutation_p.R644Q|ECT2_uc003fil.1_Missense_Mutation_p.R675Q|ECT2_uc003fim.1_5'UTR	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	644	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTAGTACAGCGGGTTGAAACA	0.378												
KCNMB2	10242	broad.mit.edu	37	3	178546038	178546038	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:178546038C>T	uc003fjd.2	+	4	643	c.300C>T	c.(298-300)AGC>AGT	p.S100S	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Silent_p.S100S|KCNMB2_uc003fjf.2_Silent_p.S100S|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	100	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GCTCCTTCAGCTGTGGTCCAG	0.512												
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
DVL3	1857	broad.mit.edu	37	3	183884279	183884279	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:183884279C>T	uc003fms.2	+	9	1089	c.949C>T	c.(949-951)CGG>TGG	p.R317W	DVL3_uc011bqw.1_Missense_Mutation_p.R317W|DVL3_uc003fmt.2_Silent_p.S5S|DVL3_uc003fmu.2_Missense_Mutation_p.R149W	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	317	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGATGCAGTCCGGGTACTGCG	0.537												
ABCF3	55324	broad.mit.edu	37	3	183908990	183908990	+	Missense_Mutation	SNP	G	G	A	rs113949696		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:183908990G>A	uc003fmz.2	+	16	1649	c.1516G>A	c.(1516-1518)GTC>ATC	p.V506I	ABCF3_uc003fna.2_Missense_Mutation_p.V500I|ABCF3_uc003fnb.2_Missense_Mutation_p.V187I	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	506	ABC transporter 2.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCGAAGCACGTCATCTTCAG	0.542												
CLCN2	1181	broad.mit.edu	37	3	184075423	184075423	+	Missense_Mutation	SNP	C	C	T	rs149439531		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:184075423C>T	uc003foi.2	-	7	881	c.757G>A	c.(757-759)GCG>ACG	p.A253T	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A253T|CLCN2_uc011brl.1_Missense_Mutation_p.A253T|CLCN2_uc011brm.1_Missense_Mutation_p.A209T|CLCN2_uc011brn.1_Missense_Mutation_p.A253T	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	253						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ATAGGTGCCGCGAAGCAGCAG	0.647												
HRG	3273	broad.mit.edu	37	3	186395311	186395311	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:186395311C>A	uc003fqq.2	+	7	1240	c.1217C>A	c.(1216-1218)CCC>CAC	p.P406H		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	406	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ggacaccatccccactgccat	0.249												
LRRC15	131578	broad.mit.edu	37	3	194080887	194080887	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:194080887G>A	uc003ftu.2	-	2	972	c.886C>T	c.(886-888)CGG>TGG	p.R296W	LRRC15_uc003ftt.2_Missense_Mutation_p.R302W	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	296	Extracellular (Potential).|LRR 11.					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAAAGCTCCCGCAGGTTGGGC	0.552												
TMEM44	93109	broad.mit.edu	37	3	194344395	194344395	+	Missense_Mutation	SNP	G	G	A	rs141093359		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:194344395G>A	uc010hzn.2	-	4	557	c.388C>T	c.(388-390)CGG>TGG	p.R130W	TMEM44_uc003fue.2_Missense_Mutation_p.R130W|TMEM44_uc003fud.2_Missense_Mutation_p.R130W|TMEM44_uc003fuf.2_Missense_Mutation_p.R130W|TMEM44_uc011bsv.1_Missense_Mutation_p.R130W|TMEM44_uc003fuh.1_RNA	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	130	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGAGCTGCCGCCTCCTCTTC	0.627												
MUC4	4585	broad.mit.edu	37	3	195501057	195501057	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:195501057G>A	uc011bto.1	-	5	13139	c.12679C>T	c.(12679-12681)CGT>TGT	p.R4227C	MUC4_uc003fuz.2_Silent_p.S34S|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Missense_Mutation_p.R96C|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Missense_Mutation_p.R96C|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.R119C|MUC4_uc003fvp.2_Missense_Mutation_p.R68C|MUC4_uc010hzu.1_Missense_Mutation_p.R967C	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1112					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGAATCACGGAGAGAGGAG	0.667												
PIGG	54872	broad.mit.edu	37	4	533012	533012	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:533012G>A	uc003gak.3	+	13	2942	c.2806G>A	c.(2806-2808)GTT>ATT	p.V936I	PIGG_uc003gaj.3_Missense_Mutation_p.V928I|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V803I|PIGG_uc003gal.3_Missense_Mutation_p.V847I	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	936	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.V928I(1)		central_nervous_system(2)|ovary(1)|skin(1)	4						CACGTACATCGTTTTGGTGAC	0.398												
TMEM175	84286	broad.mit.edu	37	4	951613	951613	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:951613G>A	uc003gbq.2	+	11	942	c.844G>A	c.(844-846)GAA>AAA	p.E282K	TMEM175_uc003gbr.2_Missense_Mutation_p.E200K|TMEM175_uc003gbu.2_Missense_Mutation_p.E200K|TMEM175_uc003gbs.2_Missense_Mutation_p.E165K|TMEM175_uc003gbt.2_Missense_Mutation_p.E165K|TMEM175_uc003gbv.2_Missense_Mutation_p.E165K|TMEM175_uc010ibm.2_Missense_Mutation_p.E98K	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	282						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTTCTCAGCGAAGACAACGT	0.652												
ZFYVE28	57732	broad.mit.edu	37	4	2306598	2306598	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:2306598C>T	uc003gex.1	-	8	1788	c.1469G>A	c.(1468-1470)GGC>GAC	p.G490D	ZFYVE28_uc011bvk.1_Missense_Mutation_p.G420D|ZFYVE28_uc011bvl.1_Missense_Mutation_p.G460D|ZFYVE28_uc003gew.1_Missense_Mutation_p.G376D	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	490					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						CACCTCCCAGCCGTCCAGGTG	0.647												
EVC2	132884	broad.mit.edu	37	4	5696067	5696067	+	Missense_Mutation	SNP	G	G	A	rs148388393		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:5696067G>A	uc003gij.2	-	3	499	c.445C>T	c.(445-447)CGC>TGC	p.R149C	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.R69C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	149						integral to membrane				large_intestine(3)|ovary(2)	5						CTTACCAGGCGGTGTGTTATA	0.393												
CCDC96	257236	broad.mit.edu	37	4	7043818	7043818	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:7043818G>A	uc003gjv.2	-	1	911	c.848C>T	c.(847-849)GCG>GTG	p.A283V	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	283											0						GCGCAGGTACGCTTGCTCTTT	0.652												
CPZ	8532	broad.mit.edu	37	4	8621094	8621094	+	Missense_Mutation	SNP	G	G	A	rs113699437	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:8621094G>A	uc003glm.2	+	11	1835	c.1709G>A	c.(1708-1710)CGG>CAG	p.R570Q	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R433Q|CPZ_uc003glo.2_Missense_Mutation_p.R559Q|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	570					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						ATCCCCGCCCGGATGAAGAGG	0.577												
NKX3-2	579	broad.mit.edu	37	4	13545921	13545921	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:13545921C>T	uc003gmx.2	-	1	194	c.118G>A	c.(118-120)GCG>ACG	p.A40T		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	40					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ACCGATGCCGCTGTgcccccg	0.507												
SLIT2	9353	broad.mit.edu	37	4	20512694	20512694	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:20512694T>C	uc003gpr.1	+	11	1196	c.992T>C	c.(991-993)CTG>CCG	p.L331P	SLIT2_uc003gps.1_Missense_Mutation_p.L331P	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	331	LRR 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CTTAGTGACCTGAGCAATAAT	0.378												
C4orf19	55286	broad.mit.edu	37	4	37592069	37592069	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:37592069C>T	uc003gsw.3	+	4	575	c.392C>T	c.(391-393)CCC>CTC	p.P131L	C4orf19_uc003gsy.3_Missense_Mutation_p.P131L	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN	hypothetical protein LOC55286	131											0						AATACTGTTCCCCCAACTCAA	0.597												
TLR6	10333	broad.mit.edu	37	4	38830420	38830420	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:38830420C>T	uc003gtm.2	-	1	741	c.675G>A	c.(673-675)CTG>CTA	p.L225L	TLR6_uc010ifg.1_Silent_p.L225L	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	225	Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						TAATATTAGTCAGTTGTAAGC	0.333												
SRD5A3	79644	broad.mit.edu	37	4	56236103	56236103	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:56236103G>A	uc003hau.2	+	5	897	c.802G>A	c.(802-804)GTC>ATC	p.V268I	uc003hav.1_Intron|uc003haw.1_Intron	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	268	Helical; (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TTCCATGGCCGTCACCTTTGG	0.453												
C4orf14	84273	broad.mit.edu	37	4	57843591	57843591	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:57843591T>G	uc003hck.2	-	1	236	c.161A>C	c.(160-162)TAT>TCT	p.Y54S	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	54							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					CACGGGGTCATAAGGAAGCTC	0.652												
AFM	173	broad.mit.edu	37	4	74367503	74367503	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:74367503G>T	uc003hhb.2	+	13	1678	c.1647_splice	c.e13-1	p.R549_splice		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor						vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTGGCCACAGGTTTCTTGTC	0.383												
CXCL10	3627	broad.mit.edu	37	4	76943854	76943854	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:76943854C>T	uc003hjl.3	-	2	248	c.178G>A	c.(178-180)GTT>ATT	p.V60I	ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron	NM_001565	NP_001556	P02778	CXL10_HUMAN	small inducible cytokine B10 precursor	60					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity				0			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGATCTCAACACGTGGACAA	0.333												
HPSE	10855	broad.mit.edu	37	4	84234371	84234371	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:84234371G>A	uc003hoj.3	-	4	668	c.569C>T	c.(568-570)GCG>GTG	p.A190V	HPSE_uc010ika.2_Intron|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Intron|HPSE_uc011cct.1_Missense_Mutation_p.A190V|HPSE_uc003hok.3_Missense_Mutation_p.A190V	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	190					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TCTTAATAACGCATTTAGGCC	0.413												
WDFY3	23001	broad.mit.edu	37	4	85708812	85708812	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:85708812C>T	uc003hpd.2	-	23	4132	c.3724G>A	c.(3724-3726)GTG>ATG	p.V1242M		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1242						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCGTGCTCACCACTGGTGGA	0.488												
ABCG2	9429	broad.mit.edu	37	4	89034590	89034590	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:89034590G>A	uc003hrg.2	-	9	1552	c.1059C>T	c.(1057-1059)TCC>TCT	p.S353S	ABCG2_uc003hrh.2_Silent_p.S353S|ABCG2_uc003hrf.2_Silent_p.S221S	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	353	Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TCTCACCCCCGGAAAGTTGAT	0.428												
PPM1K	152926	broad.mit.edu	37	4	89199582	89199582	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:89199582G>A	uc003hrm.3	-	2	544	c.154C>T	c.(154-156)CCA>TCA	p.P52S	PPM1K_uc010ikp.1_Missense_Mutation_p.P52S|PPM1K_uc003hrn.2_Missense_Mutation_p.P52S	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	52					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CTACCATCTGGGTCAAACCGA	0.557												
MMRN1	22915	broad.mit.edu	37	4	90857091	90857091	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:90857091A>G	uc003hst.2	+	6	2331	c.2260A>G	c.(2260-2262)ACT>GCT	p.T754A	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.T496A	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	754					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GACTTTAAGTACTATTAAGGA	0.323												
GRID2	2895	broad.mit.edu	37	4	94376916	94376916	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:94376916G>A	uc011cdt.1	+	11	1907	c.1649G>A	c.(1648-1650)CGA>CAA	p.R550Q	GRID2_uc011cdu.1_Missense_Mutation_p.R455Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	550	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTACTACTTCGAAGGGCTGAA	0.483												
BMPR1B	658	broad.mit.edu	37	4	96052573	96052573	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:96052573C>T	uc003htm.3	+	10	1260	c.986C>T	c.(985-987)GCC>GTC	p.A329V	BMPR1B_uc010ilb.2_Missense_Mutation_p.A329V|BMPR1B_uc003htn.3_Missense_Mutation_p.A329V	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	329	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCAGCAATTGCCCATCGAGAT	0.393												
METAP1	23173	broad.mit.edu	37	4	99960602	99960602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:99960602C>T	uc003huf.3	+	5	535	c.418C>T	c.(418-420)CGA>TGA	p.R140*	METAP1_uc003hug.2_RNA	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	140					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		AGAAGGGATGCGACTTGTATG	0.363												
CENPE	1062	broad.mit.edu	37	4	104065724	104065724	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:104065724T>C	uc003hxb.1	-	33	4999	c.4909A>G	c.(4909-4911)AAT>GAT	p.N1637D	CENPE_uc003hxc.1_Missense_Mutation_p.N1612D	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1637	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGAGTCTCATTGACAGCTGTC	0.328												
SEC24B	10427	broad.mit.edu	37	4	110384496	110384496	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:110384496C>T	uc003hzk.2	+	2	628	c.573C>T	c.(571-573)GCC>GCT	p.A191A	SEC24B_uc003hzl.2_Silent_p.A191A|SEC24B_uc011cfp.1_Silent_p.A222A|SEC24B_uc011cfq.1_Silent_p.A191A|SEC24B_uc011cfr.1_Silent_p.A191A	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	191					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTTCTAATGCCGCGTATCCTA	0.453												
FAT4	79633	broad.mit.edu	37	4	126370871	126370871	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:126370871T>C	uc003ifj.3	+	9	8700	c.8700T>C	c.(8698-8700)GAT>GAC	p.D2900D	FAT4_uc011cgp.1_Silent_p.D1198D|FAT4_uc003ifi.1_Silent_p.D378D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2900	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGATCCTGATGAGGGATCAA	0.358												
C4orf49	84709	broad.mit.edu	37	4	140188117	140188117	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:140188117A>G	uc003ihr.1	-	4	539	c.359T>C	c.(358-360)GTA>GCA	p.V120A		NM_032623	NP_116012	Q8TDB4	CD049_HUMAN	ovary-specific acidic protein	120						integral to membrane				central_nervous_system(1)|skin(1)	2						TTCAGCATCTACCACCTCAGC	0.478												
SH3D19	152503	broad.mit.edu	37	4	152069209	152069209	+	Silent	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:152069209A>T	uc010ipl.1	-	11	2197	c.1107T>A	c.(1105-1107)TCT>TCA	p.S369S	SH3D19_uc003imb.2_Silent_p.S147S|SH3D19_uc003imc.2_Silent_p.S333S|SH3D19_uc003ime.2_Silent_p.S369S|SH3D19_uc010ipm.2_Silent_p.S369S	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	369					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GATCCATGTCAGAAGAGGATC	0.453												
FSTL5	56884	broad.mit.edu	37	4	162307519	162307519	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:162307519A>G	uc003iqh.2	-	16	2360	c.1924T>C	c.(1924-1926)TTG>CTG	p.L642L	FSTL5_uc003iqi.2_Silent_p.L641L|FSTL5_uc010iqv.2_Silent_p.L632L|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	642						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGTCCTTCAAGTTAATTGTC	0.393												
TRIM61	391712	broad.mit.edu	37	4	165891048	165891048	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:165891048C>T	uc003iqw.2	-	3	718	c.107G>A	c.(106-108)TGT>TAT	p.C36Y		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	tripartite motif-containing 61	36	RING-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		GCAGGAGAGACAGAAGTTATG	0.493												
KLHL2	11275	broad.mit.edu	37	4	166238988	166238988	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:166238988A>G	uc003irb.2	+	14	1879	c.1620A>G	c.(1618-1620)GCA>GCG	p.A540A	KLHL2_uc011cjm.1_Silent_p.A544A|KLHL2_uc003irc.2_Silent_p.A452A|KLHL2_uc010ira.2_Silent_p.A193A	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	540	Kelch 5.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GAGTTTGTGCAGTTAATGGTC	0.348												
KIAA1430	57587	broad.mit.edu	37	4	186112044	186112044	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:186112044A>T	uc003ixf.3	-	2	454	c.307T>A	c.(307-309)TTG>ATG	p.L103M	KIAA1430_uc003ixg.2_Missense_Mutation_p.L103M	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	103											0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		ACATCACACAATTTTTTTGAT	0.368												
MTNR1A	4543	broad.mit.edu	37	4	187454886	187454886	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:187454886G>T	uc003izd.1	-	2	1028	c.1010C>A	c.(1009-1011)CCA>CAA	p.P337Q		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	337	Cytoplasmic (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGTCATCAGTGGAGACGGTTT	0.493												
FAT1	2195	broad.mit.edu	37	4	187534385	187534385	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:187534385G>A	uc003izf.2	-	13	9529	c.9341C>T	c.(9340-9342)ACG>ATG	p.T3114M		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3114	Extracellular (Potential).|Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATCTTCTAGCGTGAGCACAAT	0.522										HNSCC(5;0.00058)		
TERT	7015	broad.mit.edu	37	5	1255409	1255409	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:1255409C>A	uc003jcb.1	-	14	3208	c.3150G>T	c.(3148-3150)AAG>AAT	p.K1050N	TERT_uc003jbz.1_Missense_Mutation_p.K246N|TERT_uc003jca.1_Missense_Mutation_p.K1038N|TERT_uc003jcc.1_Missense_Mutation_p.K987N|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	1050	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TACCTGCGTTCTTGGCTTTCA	0.542									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic			
SLC6A3	6531	broad.mit.edu	37	5	1422074	1422074	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:1422074G>A	uc003jck.2	-	5	830	c.709C>T	c.(709-711)CGG>TGG	p.R237W		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	237	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCTGCCACCGCGGAGGCCCC	0.657												
KIAA0947	23379	broad.mit.edu	37	5	5466528	5466528	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:5466528G>A	uc003jdm.3	+	14	6196	c.5974G>A	c.(5974-5976)GCC>ACC	p.A1992T		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1992										ovary(1)|central_nervous_system(1)	2						TTACATTCACGCCCTCTGCAG	0.398												
DNAH5	1767	broad.mit.edu	37	5	13919426	13919426	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:13919426C>T	uc003jfd.2	-	7	876	c.834G>A	c.(832-834)GCG>GCA	p.A278A	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	278	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CAACGTCATCCGCTTCCTTCA	0.493									Kartagener_syndrome			
FBXL7	23194	broad.mit.edu	37	5	15928475	15928475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:15928475C>T	uc003jfn.1	+	3	1085	c.604C>T	c.(604-606)CGA>TGA	p.R202*		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	202	LRR 2.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GCTCACAGACCGAGGGCTGTA	0.597												
RNASEN	29102	broad.mit.edu	37	5	31407020	31407020	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:31407020C>T	uc003jhg.2	-	33	4246	c.3887G>A	c.(3886-3888)CGA>CAA	p.R1296Q	RNASEN_uc003jhh.2_Missense_Mutation_p.R1259Q	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	1296	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|DRBM.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						AGTGTAGGTTCGGGCATGGGA	0.418												
RNASEN	29102	broad.mit.edu	37	5	31526886	31526886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:31526886G>A	uc003jhg.2	-	4	513	c.154C>T	c.(154-156)CAA>TAA	p.Q52*	RNASEN_uc003jhh.2_Nonsense_Mutation_p.Q52*|RNASEN_uc003jhi.2_Nonsense_Mutation_p.Q52*|RNASEN_uc010iui.1_Nonsense_Mutation_p.Q43*	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	52	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						GGTTCATATTGATATTGCACA	0.557												
C5orf42	65250	broad.mit.edu	37	5	37164384	37164384	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:37164384C>T	uc011cpa.1	-	37	7810	c.7579G>A	c.(7579-7581)GTT>ATT	p.V2527I	C5orf42_uc011coy.1_Missense_Mutation_p.V1027I|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.V1602I	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2527										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCAAAAGGAACGTCGAAGTCA	0.308												
FYB	2533	broad.mit.edu	37	5	39202605	39202605	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:39202605G>A	uc003jls.2	-	1	525	c.458C>T	c.(457-459)CCG>CTG	p.P153L	FYB_uc003jlt.2_Missense_Mutation_p.P153L|FYB_uc003jlu.2_Missense_Mutation_p.P153L|FYB_uc011cpl.1_Missense_Mutation_p.P163L	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	153					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			CCCAGATTTCGGGCCTAGTGG	0.453												
FGF10	2255	broad.mit.edu	37	5	44388550	44388550	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:44388550A>C	uc003jog.1	-	1	235	c.235T>G	c.(235-237)TGG>GGG	p.W79G		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	79					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					AGCTTTCTCCAGCGGACATCT	0.517												
PLK2	10769	broad.mit.edu	37	5	57753096	57753096	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:57753096G>A	uc003jrn.2	-	7	1047	c.920C>T	c.(919-921)GCC>GTC	p.A307V		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	307	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TAAGTGCTTGGCAGGAGCCAG	0.438												
ADAMTS6	11174	broad.mit.edu	37	5	64466574	64466574	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:64466574C>T	uc003jtp.2	-	24	3928	c.3114G>A	c.(3112-3114)CAG>CAA	p.Q1038Q	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1038	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTCTCATCTGCTGTCCAAGGC	0.413												
BDP1	55814	broad.mit.edu	37	5	70812075	70812075	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:70812075A>T	uc003kbp.1	+	21	5100	c.4837A>T	c.(4837-4839)ACT>TCT	p.T1613S	BDP1_uc003kbo.2_Missense_Mutation_p.T1613S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1613					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAAGATGAAACTGAAAAGAA	0.328												
PTCD2	79810	broad.mit.edu	37	5	71638851	71638851	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:71638851C>T	uc003kcb.2	+	8	826	c.816C>T	c.(814-816)TGC>TGT	p.C272C	PTCD2_uc011csf.1_Silent_p.C82C|PTCD2_uc003kcc.2_Silent_p.C120C|PTCD2_uc011csg.1_Silent_p.C100C|PTCD2_uc011csh.1_Silent_p.C163C|PTCD2_uc003kcd.2_RNA	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	272											0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCATAGCCTGCATTAATTTAA	0.269												
PAPD4	167153	broad.mit.edu	37	5	78964728	78964728	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:78964728C>T	uc010jae.1	+	13	1503	c.1085C>T	c.(1084-1086)CCT>CTT	p.P362L	PAPD4_uc003kgb.2_Missense_Mutation_p.P362L|PAPD4_uc010jaf.1_Missense_Mutation_p.P362L|PAPD4_uc003kga.2_Missense_Mutation_p.P358L|PAPD4_uc003kfz.2_Missense_Mutation_p.P319L	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	362					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TCTTTTAGTCCTGCTATACAG	0.393												
CMYA5	202333	broad.mit.edu	37	5	79031946	79031946	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:79031946C>T	uc003kgc.2	+	2	7430	c.7358C>T	c.(7357-7359)CCA>CTA	p.P2453L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2453						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTGTTAGTCCAACTGAGAAG	0.368												
GPR98	84059	broad.mit.edu	37	5	89949385	89949385	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:89949385G>A	uc003kju.2	+	20	4090	c.3994G>A	c.(3994-3996)GGA>AGA	p.G1332R	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1332	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTACTTTACCGGACTAGAGGG	0.443												
WDR36	134430	broad.mit.edu	37	5	110446959	110446959	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:110446959A>C	uc003kpd.2	+	15	1983	c.1866A>C	c.(1864-1866)CAA>CAC	p.Q622H	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	622	WD 8.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTGGACACCAAGGCCAAATAA	0.373												
APC	324	broad.mit.edu	37	5	112176209	112176209	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:112176209C>T	uc010jby.2	+	16	5298	c.4918C>T	c.(4918-4920)CGG>TGG	p.R1640W	APC_uc011cvt.1_Missense_Mutation_p.R1622W|APC_uc003kpz.3_Missense_Mutation_p.R1640W|APC_uc003kpy.3_Missense_Mutation_p.R1640W|APC_uc010jbz.2_Missense_Mutation_p.R1357W|APC_uc010jca.2_Missense_Mutation_p.R940W	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1640	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGATATGCCACGGGTGTATTG	0.443		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
SEMA6A	57556	broad.mit.edu	37	5	115782634	115782634	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:115782634T>A	uc010jck.2	-	19	3477	c.2768A>T	c.(2767-2769)AAC>ATC	p.N923I	SEMA6A_uc003krx.3_Missense_Mutation_p.N940I|SEMA6A_uc011cwe.1_Missense_Mutation_p.N302I|SEMA6A_uc003krv.3_Missense_Mutation_p.N350I|SEMA6A_uc003krw.3_Missense_Mutation_p.N400I|SEMA6A_uc010jcj.2_Missense_Mutation_p.N467I	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	923	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CGTGAGCGAGTTCGTGGGGTA	0.562												
ALDH7A1	501	broad.mit.edu	37	5	125912806	125912806	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:125912806G>A	uc003ktx.2	-	6	807	c.615C>T	c.(613-615)AAC>AAT	p.N205N	ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.N232N|ALDH7A1_uc003ktz.2_Silent_p.N232N	NM_001182	NP_001173	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	205					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TGGCGATGGCGTTGTTCCAAC	0.448												
ISOC1	51015	broad.mit.edu	37	5	128440935	128440935	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:128440935G>T	uc003kva.2	+	3	505	c.487G>T	c.(487-489)GGT>TGT	p.G163C		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	163						peroxisome	catalytic activity				0		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		ATACCCTAAAGGTCTTGGGAG	0.368												
CHSY3	337876	broad.mit.edu	37	5	129521238	129521238	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:129521238A>G	uc003kvd.2	+	3	2403	c.2403A>G	c.(2401-2403)CAA>CAG	p.Q801Q		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	801	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCTCAATACAAGGCTGGGGAC	0.403												
RAPGEF6	51735	broad.mit.edu	37	5	130828390	130828390	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:130828390T>C	uc003kvn.1	-	14	1822	c.1616A>G	c.(1615-1617)GAG>GGG	p.E539G	RAPGEF6_uc003kvp.1_Missense_Mutation_p.E589G|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E539G|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E539G|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E539G|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E256G|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E539G|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E539G	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	539	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TAGAGGGGACTCGCGGGAAGC	0.468												
RAPGEF6	51735	broad.mit.edu	37	5	130828445	130828445	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:130828445C>T	uc003kvn.1	-	14	1767	c.1561G>A	c.(1561-1563)GCC>ACC	p.A521T	RAPGEF6_uc003kvp.1_Missense_Mutation_p.A571T|RAPGEF6_uc003kvo.1_Missense_Mutation_p.A521T|RAPGEF6_uc010jdi.1_Missense_Mutation_p.A521T|RAPGEF6_uc010jdj.1_Missense_Mutation_p.A521T|RAPGEF6_uc003kvq.2_Missense_Mutation_p.A238T|RAPGEF6_uc003kvr.2_Missense_Mutation_p.A521T|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.A521T	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	521	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAGCACAGGCAATATTCAAT	0.413												
REEP2	51308	broad.mit.edu	37	5	137780982	137780982	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:137780982C>T	uc003lcz.2	+	6	599	c.477C>T	c.(475-477)GAC>GAT	p.D159D	REEP2_uc003lda.2_Silent_p.D161D|REEP2_uc011cyt.1_Silent_p.D120D	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	159						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGATCCGGGACGAGGACGCAC	0.697												
EGR1	1958	broad.mit.edu	37	5	137803521	137803521	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:137803521G>A	uc003ldb.1	+	2	1653	c.1383G>A	c.(1381-1383)CCG>CCA	p.P461P	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	461					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			atccatccccggccaccacct	0.154												
CTNNA1	1495	broad.mit.edu	37	5	138269735	138269735	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:138269735C>T	uc003ldh.2	+	18	2773	c.2678C>T	c.(2677-2679)CCG>CTG	p.P893L	CTNNA1_uc011cyx.1_Missense_Mutation_p.P790L|CTNNA1_uc011cyy.1_Missense_Mutation_p.P770L|CTNNA1_uc003ldi.2_Missense_Mutation_p.P591L|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Missense_Mutation_p.P523L	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	893					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CACGTGAACCCGGTGCAGGCC	0.542												
PCDHA5	56143	broad.mit.edu	37	5	140202594	140202594	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140202594C>A	uc003lhl.2	+	1	1234	c.1234C>A	c.(1234-1236)CTG>ATG	p.L412M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.L412M|PCDHA5_uc003lhj.1_Missense_Mutation_p.L412M	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	412	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGCGCCCTGGACCGCGA	0.642												
PCDHA7	56141	broad.mit.edu	37	5	140215588	140215588	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140215588G>T	uc003lhq.2	+	1	1620	c.1620G>T	c.(1618-1620)GCG>GCT	p.A540A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.A540A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	540	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGATGCGGGCGTGCCGC	0.682												
PCDHA11	56138	broad.mit.edu	37	5	140250524	140250524	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140250524G>A	uc003lia.2	+	1	2694	c.1836G>A	c.(1834-1836)CCG>CCA	p.P612P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.P612P	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	612	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGCAGCCGGCGGCGGGCG	0.682												
PCDHB4	56131	broad.mit.edu	37	5	140501700	140501700	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140501700C>T	uc003lip.1	+	1	120	c.120C>T	c.(118-120)AGC>AGT	p.S40S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	40	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAGAGAGCGGCTCCTTTG	0.537												
PCDHGB2	56103	broad.mit.edu	37	5	140741226	140741226	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140741226C>T	uc003ljs.1	+	1	1524	c.1524C>T	c.(1522-1524)AGC>AGT	p.S508S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.S508S|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	508	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGTGAGCGCGCAGAGCG	0.662												
PCDHGA7	56108	broad.mit.edu	37	5	140762765	140762765	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140762765C>T	uc003lka.1	+	1	299	c.299C>T	c.(298-300)GCG>GTG	p.A100V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A100V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	100	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGTGCGCGGTGTCTG	0.483												
SPINK5	11005	broad.mit.edu	37	5	147480951	147480951	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:147480951A>G	uc003lox.2	+	14	1327	c.1254A>G	c.(1252-1254)GAA>GAG	p.E418E	SPINK5_uc010jgs.1_Silent_p.E390E|SPINK5_uc010jgr.2_Silent_p.E399E|SPINK5_uc003low.2_Silent_p.E418E|SPINK5_uc003loy.2_Silent_p.E418E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	418	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGAAGGAAGGTAAATCAA	0.378												
SH3TC2	79628	broad.mit.edu	37	5	148422396	148422396	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:148422396G>A	uc003lpu.2	-	5	542	c.390C>T	c.(388-390)TAC>TAT	p.Y130Y	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_5'Flank|SH3TC2_uc003lpt.2_Translation_Start_Site|SH3TC2_uc010jgx.2_Intron|SH3TC2_uc003lpv.1_Translation_Start_Site|SH3TC2_uc011dbz.1_Silent_p.Y15Y	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	130							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATGGATACGTAGCCTAAGA	0.423												
GM2A	2760	broad.mit.edu	37	5	150646383	150646383	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:150646383G>A	uc003ltr.3	+	3	500	c.335G>A	c.(334-336)TGT>TAT	p.C112Y	GM2A_uc011dcs.1_RNA|GM2A_uc011dcr.1_Missense_Mutation_p.C112Y|GM2A_uc003ltt.1_Missense_Mutation_p.C44Y|GM2A_uc003ltu.1_5'Flank	NM_000405	NP_000396	P17900	SAP3_HUMAN	GM2 ganglioside activator precursor	112						lysosome|nucleolus	sphingolipid activator protein activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACACTTCTGTGATGTGCTT	0.498												
CYFIP2	26999	broad.mit.edu	37	5	156752567	156752567	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:156752567A>G	uc003lwq.2	+	19	2041	c.1903A>G	c.(1903-1905)ATC>GTC	p.I635V	CYFIP2_uc011ddn.1_Missense_Mutation_p.I609V|CYFIP2_uc011ddo.1_Missense_Mutation_p.I439V|CYFIP2_uc003lwr.2_Missense_Mutation_p.I635V|CYFIP2_uc003lws.2_Missense_Mutation_p.I635V|CYFIP2_uc003lwt.2_Missense_Mutation_p.I538V|CYFIP2_uc011ddp.1_Missense_Mutation_p.I369V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	660					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCCGACGAATCCAGTTCCC	0.527												
ODZ2	57451	broad.mit.edu	37	5	167545433	167545433	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:167545433C>A	uc010jjd.2	+	10	1950	c.1950C>A	c.(1948-1950)TCC>TCA	p.S650S	ODZ2_uc003lzq.2_Silent_p.S529S|ODZ2_uc003lzr.3_Silent_p.S418S|ODZ2_uc003lzt.3_Silent_p.S14S|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCCACGGCTCCTGCATTGATG	0.617												
CDHR2	54825	broad.mit.edu	37	5	176004677	176004677	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:176004677G>A	uc003mem.1	+	14	1456	c.1390G>A	c.(1390-1392)GCC>ACC	p.A464T	CDHR2_uc003men.1_Missense_Mutation_p.A464T	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	464	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CTTCTCCGTCGCCATGGTGAC	0.637												
UIMC1	51720	broad.mit.edu	37	5	176397788	176397788	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:176397788C>T	uc011dfp.1	-	4	479	c.312G>A	c.(310-312)GAG>GAA	p.E104E	UIMC1_uc003mfc.1_5'UTR|UIMC1_uc003mfd.1_5'UTR|UIMC1_uc003mfg.1_Silent_p.E104E|UIMC1_uc003mfh.1_Silent_p.E104E|UIMC1_uc010jkj.1_Silent_p.E104E|UIMC1_uc011dfq.1_Silent_p.E104E|UIMC1_uc003mff.1_5'Flank	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	104	Necessary for interaction with NR6A1 N- terminus.|UIM 2.|Glu-rich.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCTTCTTCCTCCTCCTGGC	0.438												
NSD1	64324	broad.mit.edu	37	5	176710894	176710894	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:176710894G>A	uc003mfr.3	+	20	6254	c.6116G>A	c.(6115-6117)CGT>CAT	p.R2039H	NSD1_uc003mft.3_Missense_Mutation_p.R1770H|NSD1_uc011dfx.1_Missense_Mutation_p.R1687H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2039	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAGATACCCGTGTAGGCCTT	0.423			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
DBN1	1627	broad.mit.edu	37	5	176885651	176885651	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:176885651T>C	uc003mgy.2	-	12	1356	c.1184A>G	c.(1183-1185)CAG>CGG	p.Q395R	DBN1_uc011dga.1_Missense_Mutation_p.Q127R|DBN1_uc003mgx.2_Missense_Mutation_p.Q397R|DBN1_uc010jkn.1_Missense_Mutation_p.Q345R|DBN1_uc003mgz.1_Missense_Mutation_p.Q378R	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	395					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCAGGCCTGAGGGGCTGC	0.662												
RUFY1	80230	broad.mit.edu	37	5	178994485	178994485	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:178994485C>T	uc003mka.1	+	4	626	c.626C>T	c.(625-627)GCG>GTG	p.A209V	RUFY1_uc003mkb.1_Missense_Mutation_p.A101V|RUFY1_uc003mkc.1_Missense_Mutation_p.A101V	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	209	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGGCCGAGCGTGGCTTTAT	0.403										HNSCC(44;0.11)		
DSP	1832	broad.mit.edu	37	6	7569500	7569500	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:7569500G>A	uc003mxp.1	+	12	1780	c.1501G>A	c.(1501-1503)GTT>ATT	p.V501I	DSP_uc003mxq.1_Missense_Mutation_p.V501I	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	501	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCCGGGAGGCGTTGACATGCT	0.562												
DSP	1832	broad.mit.edu	37	6	7580631	7580631	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:7580631G>T	uc003mxp.1	+	23	4487	c.4208G>T	c.(4207-4209)AGG>ATG	p.R1403M	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1403	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGAGAAAACAGGAGCTTATCT	0.488												
SNRNP48	154007	broad.mit.edu	37	6	7595261	7595261	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:7595261T>C	uc003mxr.2	+	4	392	c.333T>C	c.(331-333)AAT>AAC	p.N111N	SNRNP48_uc003mxs.2_RNA	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	111					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						TTTTGACAGATAAGGACTCAC	0.333												
RANBP9	10048	broad.mit.edu	37	6	13634728	13634728	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:13634728G>A	uc003nbb.2	-	11	1789	c.1730C>T	c.(1729-1731)TCC>TTC	p.S577F	RANBP9_uc003nba.2_Missense_Mutation_p.S236F	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	577					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GAAACCATTGGATGAAGTTTC	0.338												
JARID2	3720	broad.mit.edu	37	6	15520474	15520474	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:15520474T>C	uc003nbj.2	+	18	3977	c.3733T>C	c.(3733-3735)TCA>CCA	p.S1245P	JARID2_uc011div.1_Missense_Mutation_p.S1073P	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1245	Poly-Ser.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				tgcttcgagctcatcatgaag	0.343												
HIST1H1E	3008	broad.mit.edu	37	6	26156941	26156941	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:26156941A>G	uc003ngq.2	+	1	383	c.323A>G	c.(322-324)AAC>AGC	p.N108S	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	108	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						TTCAAACTCAACAAGAAGGCG	0.612												
ZSCAN16	80345	broad.mit.edu	37	6	28093420	28093420	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:28093420C>T	uc003nkm.2	+	2	299	c.199C>T	c.(199-201)CGT>TGT	p.R67C	uc010jqw.1_Intron|uc003nkk.1_RNA|uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Missense_Mutation_p.R67C	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						GGAGCTCTGCCGTCAGTGGCT	0.532												
SCAND3	114821	broad.mit.edu	37	6	28543300	28543300	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:28543300C>T	uc003nlo.2	-	3	1800	c.1182G>A	c.(1180-1182)TTG>TTA	p.L394L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	394	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTGATAATGCAAAATAAATC	0.333												
OR10C1	442194	broad.mit.edu	37	6	29408447	29408447	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:29408447C>T	uc011dlp.1	+	1	655	c.655C>T	c.(655-657)CGT>TGT	p.R219C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	219	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCCTACGGGCGTATCCTCGT	0.582												
C6orf47	57827	broad.mit.edu	37	6	31627249	31627249	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:31627249C>T	uc003nvm.1	-	1	1301	c.476G>A	c.(475-477)CGG>CAG	p.R159Q		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	159										ovary(1)	1						TGGTTCCCCCCGCAGCCAGCC	0.642												
BTNL2	56244	broad.mit.edu	37	6	32363934	32363934	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:32363934G>A	uc003obg.1	-	5	960	c.960C>T	c.(958-960)GAC>GAT	p.D320D	BTNL2_uc010jty.1_Silent_p.D43D|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.D110D	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2	320	Extracellular (Potential).|Ig-like V-type 3.					integral to membrane				central_nervous_system(1)	1						GTCTGCCCTCGTCAATGGCGT	0.547												
BRD2	6046	broad.mit.edu	37	6	32947844	32947844	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:32947844C>A	uc003ocn.3	+	11	3782	c.2081C>A	c.(2080-2082)TCC>TAC	p.S694Y	BRD2_uc003ocq.3_Missense_Mutation_p.S694Y|BRD2_uc003ocp.3_Missense_Mutation_p.S574Y|BRD2_uc010juh.2_Missense_Mutation_p.S729Y	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	694	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTCAAGCCATCCACACTTAGA	0.468												
B3GALT4	8705	broad.mit.edu	37	6	33245676	33245676	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:33245676G>T	uc003odr.2	+	1	760	c.480G>T	c.(478-480)TGG>TGT	p.W160C		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	160	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						GGCTGAACTGGGCTGAGAAAC	0.597												
ITPR3	3710	broad.mit.edu	37	6	33608274	33608274	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:33608274C>T	uc011drk.1	+	2	322	c.103C>T	c.(103-105)CGC>TGC	p.R35C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	35	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GGTGGATGACCGCTGTGTGGT	0.632												
LEMD2	221496	broad.mit.edu	37	6	33740534	33740534	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:33740534C>A	uc011drm.1	-	9	1396	c.1383G>T	c.(1381-1383)TGG>TGT	p.W461C	LEMD2_uc010jvg.2_Missense_Mutation_p.W170C|LEMD2_uc011drl.1_Missense_Mutation_p.W159C|LEMD2_uc003ofe.2_Missense_Mutation_p.W159C	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	LEM domain containing 2 isoform 1	461						integral to nuclear inner membrane				central_nervous_system(1)	1						CAGCTCGGTCCCAGACACGCT	0.627												
TCP11	6954	broad.mit.edu	37	6	35088313	35088313	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:35088313G>A	uc003okd.2	-	7	1046	c.865C>T	c.(865-867)CCC>TCC	p.P289S	TCP11_uc003ojz.1_Missense_Mutation_p.P214S|TCP11_uc003oka.2_Missense_Mutation_p.P214S|TCP11_uc003okb.2_Missense_Mutation_p.P213S|TCP11_uc003okc.2_Missense_Mutation_p.P213S|TCP11_uc011dsu.1_Missense_Mutation_p.P271S|TCP11_uc011dsv.1_Missense_Mutation_p.P238S|TCP11_uc011dsw.1_Missense_Mutation_p.P243S	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	276					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						GCCTCATTGGGAGAGGGGCCA	0.567												
DNAH8	1769	broad.mit.edu	37	6	38840716	38840716	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:38840716G>T	uc003ooe.1	+	49	7221	c.6621G>T	c.(6619-6621)GTG>GTT	p.V2207V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATGGTCCTGTGGATGCCATCT	0.348												
DNAH8	1769	broad.mit.edu	37	6	38942265	38942265	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:38942265C>T	uc003ooe.1	+	83	12743	c.12143C>T	c.(12142-12144)CCG>CTG	p.P4048L	DNAH8_uc003oog.1_Missense_Mutation_p.P497L	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATGTGGAAGCCGATGCTTTAC	0.458												
LRFN2	57497	broad.mit.edu	37	6	40359938	40359938	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:40359938C>T	uc003oph.1	-	3	2579	c.2114G>A	c.(2113-2115)CGG>CAG	p.R705Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	705	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCTCCTGGCCCGGGCCGCAGG	0.726												
TBCC	6903	broad.mit.edu	37	6	42712855	42712855	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:42712855G>A	uc003osl.2	-	1	1030	c.957C>T	c.(955-957)GAC>GAT	p.D319D		NM_003192	NP_003183	Q15814	TBCC_HUMAN	beta-tubulin cofactor C	319	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity				0	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGTTAAAATCGTCAACATCGT	0.502												
KIAA0240	23506	broad.mit.edu	37	6	42796578	42796578	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:42796578G>A	uc003osn.1	+	6	658	c.507G>A	c.(505-507)ACG>ACA	p.T169T	KIAA0240_uc003osm.1_Silent_p.T169T|KIAA0240_uc011duw.1_Silent_p.T169T|KIAA0240_uc003oso.1_Silent_p.T169T|KIAA0240_uc003osp.1_Silent_p.T169T	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	169										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TAGGGGTGACGCATGTGCCTG	0.473												
CUL7	9820	broad.mit.edu	37	6	43020085	43020085	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:43020085C>T	uc003otq.2	-	2	745	c.442G>A	c.(442-444)GCC>ACC	p.A148T	CUL7_uc011dvb.1_Missense_Mutation_p.A200T|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	148					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCAATGCTGGCATAGGCGCTG	0.552												
CUL9	23113	broad.mit.edu	37	6	43192089	43192089	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:43192089A>G	uc003ouk.2	+	41	7535	c.7460A>G	c.(7459-7461)AAT>AGT	p.N2487S	CUL9_uc003oul.2_Missense_Mutation_p.N2459S|CUL9_uc010jyk.2_Missense_Mutation_p.N1639S|CUL9_uc003oun.2_Missense_Mutation_p.N282S	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2487					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GAGCTGGACAATGACAGCTTC	0.547												
HMGCLL1	54511	broad.mit.edu	37	6	55443799	55443799	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:55443799G>A	uc003pcn.2	-	1	214	c.55C>T	c.(55-57)CGG>TGG	p.R19W	HMGCLL1_uc003pco.2_Missense_Mutation_p.R19W|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.R19W|HMGCLL1_uc011dxd.1_Missense_Mutation_p.R19W|HMGCLL1_uc011dxe.1_Missense_Mutation_p.R19W|HMGCLL1_uc003pcp.2_Missense_Mutation_p.R19W	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	19							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGATGCTCCCGGAGAAGCTGC	0.682												
PHF3	23469	broad.mit.edu	37	6	64410356	64410356	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:64410356T>C	uc003pep.1	+	8	3125	c.3099T>C	c.(3097-3099)CAT>CAC	p.H1033H	PHF3_uc010kah.1_Silent_p.H847H|PHF3_uc003pen.2_Silent_p.H945H|PHF3_uc011dxs.1_Silent_p.H302H	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1033	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAACAGACATGTAAGATTAT	0.338												
RNGTT	8732	broad.mit.edu	37	6	89616132	89616132	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:89616132C>T	uc003pmr.2	-	5	615	c.395G>A	c.(394-396)CGC>CAC	p.R132H	RNGTT_uc003pms.2_Missense_Mutation_p.R132H|RNGTT_uc011dzu.1_Missense_Mutation_p.R72H|RNGTT_uc003pmt.2_Missense_Mutation_p.R132H	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	132	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		GAAACCAGTGCGATTGAAGCC	0.323												
PNRC1	10957	broad.mit.edu	37	6	89793839	89793839	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:89793839G>C	uc003pmv.2	+	2	1093	c.908G>C	c.(907-909)AGC>ACC	p.S303T	PNRC1_uc003pmx.2_Missense_Mutation_p.S118T	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		TGGATGGGAAGCACTGTTGAA	0.418										Multiple Myeloma(7;0.094)		
MDN1	23195	broad.mit.edu	37	6	90461182	90461182	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:90461182G>C	uc003pnn.1	-	23	3311	c.3195C>G	c.(3193-3195)AAC>AAG	p.N1065K	MDN1_uc003pno.1_Missense_Mutation_p.N484K	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1065					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TATCTCTCAGGTTCAGCTTCA	0.488												
BACH2	60468	broad.mit.edu	37	6	90647937	90647937	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:90647937G>A	uc011eab.1	-	8	2778	c.1969C>T	c.(1969-1971)CGC>TGC	p.R657C	BACH2_uc003pnw.2_Missense_Mutation_p.R657C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	657	Basic motif.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GCCGCGATGCGGTTCTTGCTG	0.453												
SLC35F1	222553	broad.mit.edu	37	6	118228882	118228882	+	Translation_Start_Site	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:118228882C>A	uc003pxx.3	+	1	194	c.-7C>A	c.(-9--5)CTCTG>CTATG			NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		GCCTCAGCCTCTGCCGCGATG	0.637												
FAM184A	79632	broad.mit.edu	37	6	119345439	119345439	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:119345439C>T	uc003pyj.2	-	2	1047	c.699G>A	c.(697-699)ATG>ATA	p.M233I	FAM184A_uc003pyk.3_Missense_Mutation_p.M113I|FAM184A_uc003pyl.3_Missense_Mutation_p.M113I	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	233	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						GCTCCTCAAGCATTTTGTTTA	0.418												
IFNGR1	3459	broad.mit.edu	37	6	137540418	137540418	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:137540418C>T	uc003qho.2	-	1	150	c.47G>A	c.(46-48)AGG>AAG	p.R16K	IFNGR1_uc011edm.1_5'Flank|IFNGR1_uc011edn.1_5'UTR	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	16					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CATCTCAGCCCTGCTCACACC	0.697												
TNFAIP3	7128	broad.mit.edu	37	6	138199749	138199749	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:138199749G>A	uc003qhr.2	+	7	1233	c.1167G>A	c.(1165-1167)ACG>ACA	p.T389T	TNFAIP3_uc003qhs.2_Silent_p.T389T	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	389	Interaction with NAF1 (By similarity).|A20-type 1.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AATGTGAAACGCCCAACTGCC	0.527			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
HIVEP2	3097	broad.mit.edu	37	6	143093660	143093660	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:143093660C>A	uc003qjd.2	-	5	2959	c.2216G>T	c.(2215-2217)AGG>ATG	p.R739M		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAATCCACTCCTGACTCCTTC	0.537												
SASH1	23328	broad.mit.edu	37	6	148761499	148761499	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:148761499G>A	uc003qme.1	+	4	817	c.342G>A	c.(340-342)TCG>TCA	p.S114S		NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	114							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGTAGGAGTCGCTTGGCTTCT	0.473												
KATNA1	11104	broad.mit.edu	37	6	149916287	149916287	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:149916287T>C	uc003qmr.1	-	10	1406	c.1361A>G	c.(1360-1362)CAC>CGC	p.H454R	KATNA1_uc003qms.2_Missense_Mutation_p.H454R|KATNA1_uc003qmt.2_3'UTR	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	454					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TGTAGGCATGTGCATTTCTTC	0.403												
SYNE1	23345	broad.mit.edu	37	6	152621778	152621778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:152621778G>A	uc010kiw.2	-	93	18282	c.17680C>T	c.(17680-17682)CAG>TAG	p.Q5894*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q418*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q418*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q5823*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q5894*|SYNE1_uc010kiy.1_Intron	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5894	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAGGTACCTGGTTAACAGAA	0.502										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152640107	152640107	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:152640107C>A	uc010kiw.2	-	85	16882	c.16280G>T	c.(16279-16281)AGC>ATC	p.S5427I	SYNE1_uc010kiv.2_5'Flank|SYNE1_uc003qos.3_5'Flank|SYNE1_uc003qot.3_Missense_Mutation_p.S5356I|SYNE1_uc003qou.3_Missense_Mutation_p.S5427I|SYNE1_uc010kiz.2_Missense_Mutation_p.S1182I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5427	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTCCTGGCTCGTGGCCTT	0.373										HNSCC(10;0.0054)		
ARID1B	57492	broad.mit.edu	37	6	157528046	157528046	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:157528046G>T	uc003qqn.2	+	20	5869	c.5717G>T	c.(5716-5718)AGG>ATG	p.R1906M	ARID1B_uc003qqo.2_Missense_Mutation_p.R1866M|ARID1B_uc003qqp.2_Missense_Mutation_p.R1853M	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1911					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACGAGCCCAGGAGCCGAGAC	0.557												
T	6862	broad.mit.edu	37	6	166580164	166580164	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:166580164C>T	uc003quu.1	-	3	880	c.387G>A	c.(385-387)TCG>TCA	p.S129S	T_uc003qut.1_Silent_p.S129S|T_uc003quv.1_Silent_p.S129S	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	129	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGAAGTTGGGCGAGTCGGGGT	0.657									Chordoma_Familial_Clustering_of			
SDK1	221935	broad.mit.edu	37	7	4273010	4273010	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:4273010C>T	uc003smx.2	+	41	6090	c.5951C>T	c.(5950-5952)GCG>GTG	p.A1984V	SDK1_uc010kso.2_Missense_Mutation_p.A1240V|SDK1_uc003smy.2_Missense_Mutation_p.A471V|SDK1_uc003smz.2_Missense_Mutation_p.A44V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1984	Fibronectin type-III 13.				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)		GTGAATGAGGCGGGCTACGGG	0.622												
RBAK	57786	broad.mit.edu	37	7	5105012	5105012	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:5105012A>G	uc010kss.1	+	6	2249	c.1925A>G	c.(1924-1926)TAC>TGC	p.Y642C	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.Y642C	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	642	C2H2-type 14.|Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACTGTCCACTACAGAAGCCAT	0.393												
PHF14	9678	broad.mit.edu	37	7	11091407	11091407	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:11091407G>T	uc003sry.1	+	14	2916	c.2481G>T	c.(2479-2481)ACG>ACT	p.T827T	PHF14_uc011jxi.1_Silent_p.T542T|PHF14_uc003srz.2_Silent_p.T827T|PHF14_uc011jxj.1_Silent_p.T542T	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	827							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAAGAAACACGGTAGTTTATT	0.388												
DGKB	1607	broad.mit.edu	37	7	14775710	14775710	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:14775710T>C	uc003ssz.2	-	4	465	c.278A>G	c.(277-279)CAT>CGT	p.H93R	DGKB_uc011jxt.1_Missense_Mutation_p.H86R|DGKB_uc003sta.2_Missense_Mutation_p.H93R|DGKB_uc011jxu.1_Missense_Mutation_p.H93R|DGKB_uc011jxv.1_Missense_Mutation_p.H93R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	93					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	TGGACTAGAATGAGGAAACTT	0.353												
FAM126A	84668	broad.mit.edu	37	7	22985387	22985387	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:22985387G>T	uc003svm.3	-	11	1642	c.1387C>A	c.(1387-1389)CCA>ACA	p.P463T	FAM126A_uc003svn.3_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	463						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						GGGTTATGTGGGACTGTGACA	0.468												
C7orf31	136895	broad.mit.edu	37	7	25194757	25194757	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:25194757G>A	uc003sxn.1	-	6	1029	c.468C>T	c.(466-468)CGC>CGT	p.R156R	C7orf31_uc003sxm.1_5'UTR	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	156											0						ACATGGCGCCGCGACAGATGT	0.502												
GHRHR	2692	broad.mit.edu	37	7	31014105	31014105	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:31014105G>A	uc003tbx.2	+	8	860	c.812_splice	c.e8+1	p.A271_splice	GHRHR_uc003tbw.1_Splice_Site_p.A271_splice|GHRHR_uc003tby.2_Splice_Site_p.A207_splice|GHRHR_uc003tbz.2_Splice_Site_p.R37_splice	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	AGGACATCGCGTGAGTCGGAG	0.617												
NT5C3	51251	broad.mit.edu	37	7	33055402	33055402	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:33055402G>A	uc003tdk.2	-	8	866	c.789C>T	c.(787-789)TTC>TTT	p.F263F	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.F224F|NT5C3_uc003tdj.2_Silent_p.F224F	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	263					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			TTAGTTGATTGAAATATTCTG	0.353												
BBS9	27241	broad.mit.edu	37	7	33545232	33545232	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:33545232C>T	uc003tdn.1	+	20	2786	c.2273C>T	c.(2272-2274)CCG>CTG	p.P758L	BBS9_uc003tdo.1_Missense_Mutation_p.P723L|BBS9_uc003tdp.1_Missense_Mutation_p.P753L|BBS9_uc003tdq.1_Missense_Mutation_p.P718L|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.P282L|BBS9_uc003tds.1_Missense_Mutation_p.P181L|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	758					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GCATTTCTGCCGCTACAAGAA	0.498									Bardet-Biedl_syndrome			
EEPD1	80820	broad.mit.edu	37	7	36194050	36194050	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:36194050G>A	uc003tfa.2	+	2	757	c.117G>A	c.(115-117)CGG>CGA	p.R39R		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	39	HhH.				DNA repair		DNA binding				0						ATCAGGAGCGGCTCAACATCA	0.607												
AMPH	273	broad.mit.edu	37	7	38433753	38433753	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:38433753G>A	uc003tgu.2	-	18	1529	c.1460C>T	c.(1459-1461)GCC>GTC	p.A487V	AMPH_uc003tgv.2_Missense_Mutation_p.A445V|AMPH_uc003tgt.2_Missense_Mutation_p.A372V|AMPH_uc003tgw.1_Missense_Mutation_p.A510V|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	487					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						CTCTCCTGGGGCCCCCTCAGC	0.577												
GLI3	2737	broad.mit.edu	37	7	42116409	42116409	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:42116409C>T	uc011kbh.1	-	4	506	c.415G>A	c.(415-417)GCC>ACC	p.A139T	GLI3_uc011kbg.1_Missense_Mutation_p.A80T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	139					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGATGTCTGGCATCAATTGGT	0.413									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
NUDCD3	23386	broad.mit.edu	37	7	44425629	44425629	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:44425629G>A	uc003tkz.2	-	6	1253	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L	NUDCD3_uc010kye.2_RNA	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	356											0						CACAGCCCCCGGGGAGATGTT	0.562												
MYO1G	64005	broad.mit.edu	37	7	45015133	45015133	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:45015133A>C	uc003tmh.2	-	4	658	c.514T>G	c.(514-516)TTC>GTC	p.F172V	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Missense_Mutation_p.F57V|MYO1G_uc003tmi.1_Missense_Mutation_p.F84V|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	172	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						TCCCCCTTGAAGTCAAAGTTG	0.597												
TNS3	64759	broad.mit.edu	37	7	47344520	47344520	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:47344520C>T	uc003tnv.2	-	21	3099	c.2732G>A	c.(2731-2733)CGG>CAG	p.R911Q	TNS3_uc003tnw.2_Missense_Mutation_p.R911Q	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	911						focal adhesion	protein binding			ovary(4)	4						CGCATCAGCCCGGAGCATCGT	0.587												
PKD1L1	168507	broad.mit.edu	37	7	47944770	47944770	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:47944770G>A	uc003tny.1	-	11	1675	c.1675C>T	c.(1675-1677)CTC>TTC	p.L559F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	559	Extracellular (Potential).|PKD 1.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGGATGCTGAGTCTTTTTTTA	0.443												
ABCA13	154664	broad.mit.edu	37	7	48313025	48313025	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:48313025G>T	uc003toq.2	+	17	3787	c.3762G>T	c.(3760-3762)GAG>GAT	p.E1254D	ABCA13_uc010kyr.2_Missense_Mutation_p.E757D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1254					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AGCAAGTGGAGAAATCCCTTT	0.388												
ABCA13	154664	broad.mit.edu	37	7	48335320	48335320	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:48335320G>A	uc003toq.2	+	21	9004	c.8979G>A	c.(8977-8979)TCG>TCA	p.S2993S	ABCA13_uc010kys.1_Silent_p.S67S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2993					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TATGGTCCTCGCCGAATCAGC	0.388												
GTF2IRD1	9569	broad.mit.edu	37	7	74005272	74005272	+	Silent	SNP	G	G	A	rs113892752		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:74005272G>A	uc003uaq.2	+	24	2955	c.2562G>A	c.(2560-2562)ACG>ACA	p.T854T	GTF2IRD1_uc010lbq.2_Silent_p.T871T|GTF2IRD1_uc003uap.2_Silent_p.T839T|GTF2IRD1_uc003uar.1_Silent_p.T839T	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	854	GTF2I-like 5.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						ACCCCAACACGTACGACATCC	0.612												
HIP1	3092	broad.mit.edu	37	7	75189089	75189089	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:75189089C>A	uc003uds.1	-	14	1363	c.1322G>T	c.(1321-1323)AGG>ATG	p.R441M	HIP1_uc011kfz.1_Missense_Mutation_p.R318M	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	441	Potential.|pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CCGCTGCCTCCTGAGCTCGTC	0.493			T	PDGFRB	CMML							
SEMA3A	10371	broad.mit.edu	37	7	83823851	83823851	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:83823851C>T	uc003uhz.2	-	1	367	c.52G>A	c.(52-54)GCA>ACA	p.A18T		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	18					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTTGCTCTTGCTGTAAGTAAT	0.393												
CLDN12	9069	broad.mit.edu	37	7	90042232	90042232	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:90042232T>C	uc003ukp.2	+	5	878	c.242T>C	c.(241-243)CTG>CCG	p.L81P	CLDN12_uc003ukq.2_Missense_Mutation_p.L81P|CLDN12_uc010leq.2_Missense_Mutation_p.L81P|CLDN12_uc003ukr.2_Missense_Mutation_p.L81P|CLDN12_uc003uks.2_Missense_Mutation_p.L81P	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	81	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GTTGACCAGCTGGACCTGCGT	0.562												
CASD1	64921	broad.mit.edu	37	7	94163028	94163028	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:94163028T>C	uc003uni.3	+	7	769	c.542T>C	c.(541-543)CTT>CCT	p.L181P	CASD1_uc003unh.2_Missense_Mutation_p.L181P|CASD1_uc003unj.3_Missense_Mutation_p.L181P	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	181						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTGAAGCGCTTTCTCAATAT	0.313												
LMTK2	22853	broad.mit.edu	37	7	97821424	97821424	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:97821424C>T	uc003upd.1	+	11	1940	c.1647C>T	c.(1645-1647)AGC>AGT	p.S549S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	549					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGTTGGAAGCGACTATTATA	0.502												
BAIAP2L1	55971	broad.mit.edu	37	7	97984432	97984432	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:97984432G>A	uc003upj.2	-	3	399	c.136C>T	c.(136-138)CTG>TTG	p.L46L		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	46	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTTCCTGCCAGGATCATAGCT	0.498												
CYP3A7	1551	broad.mit.edu	37	7	99308406	99308406	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:99308406A>G	uc003uru.2	-	10	1080	c.975T>C	c.(973-975)CCT>CCC	p.P325P	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	325					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GCTGGACATCAGGGTGAGTGG	0.443												
MCM7	4176	broad.mit.edu	37	7	99695354	99695354	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:99695354C>T	uc003usw.1	-	9	1510	c.1000G>A	c.(1000-1002)GAA>AAA	p.E334K	MCM7_uc003usv.1_Missense_Mutation_p.E158K|MCM7_uc003usx.1_Missense_Mutation_p.E158K	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	334	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCCAGCTTTTCGTAGAAATCC	0.507												
TAF6	6878	broad.mit.edu	37	7	99706053	99706053	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:99706053C>T	uc003uti.2	-	13	1476	c.1395G>A	c.(1393-1395)AAG>AAA	p.K465K	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Silent_p.K387K|TAF6_uc003uth.2_Silent_p.K522K|TAF6_uc003utk.2_Silent_p.K465K|TAF6_uc011kji.1_Silent_p.K502K|TAF6_uc003utj.2_Silent_p.K455K|TAF6_uc003utl.2_Silent_p.K465K|TAF6_uc003utm.2_Silent_p.K465K	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	465					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCCCGAGCCTTGACCACCT	0.647												
TSC22D4	81628	broad.mit.edu	37	7	100064709	100064709	+	Missense_Mutation	SNP	C	C	T	rs143908452		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100064709C>T	uc003uva.2	-	5	1816	c.1061G>A	c.(1060-1062)CGG>CAG	p.R354Q	C7orf61_uc003uuz.1_5'Flank|TSC22D4_uc003uvb.2_Missense_Mutation_p.R115Q|TSC22D4_uc011kjv.1_Missense_Mutation_p.R115Q|TSC22D4_uc010lgx.2_Missense_Mutation_p.R354Q	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	354	Leucine-zipper.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCAGCGTTCCGCTCCGCCAA	0.697												
PCOLCE	5118	broad.mit.edu	37	7	100201580	100201580	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100201580A>G	uc003uvo.2	+	3	403	c.205_splice	c.e3-2	p.V69_splice	uc011kjy.1_RNA|PCOLCE_uc011kkb.1_Splice_Site_p.V69_splice|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer						multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGCTATCAGGTCCCCGAG	0.647												
ZAN	7455	broad.mit.edu	37	7	100369603	100369603	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100369603G>T	uc003uwj.2	+	29	5550	c.5385G>T	c.(5383-5385)CAG>CAT	p.Q1795H	ZAN_uc003uwk.2_Missense_Mutation_p.Q1795H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.Q372H|ZAN_uc011kke.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1795	Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTGTGCCCAGGCTGGCCAGG	0.652												
ACHE	43	broad.mit.edu	37	7	100489954	100489954	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100489954C>T	uc003uxd.2	-	2	1709	c.1553_splice	c.e2+1	p.G518_splice	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Splice_Site_p.G518_splice|ACHE_uc003uxf.2_Splice_Site_p.G518_splice|ACHE_uc003uxg.2_Splice_Site_p.G518_splice|ACHE_uc003uxh.2_Splice_Site_p.G430_splice|ACHE_uc003uxi.2_Splice_Site_p.G518_splice	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor						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)	GCACTGCTGACCCTGTGCGGG	0.607												
MUC17	140453	broad.mit.edu	37	7	100682687	100682687	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100682687G>A	uc003uxp.1	+	3	8043	c.7990G>A	c.(7990-7992)GTG>ATG	p.V2664M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2664	Extracellular (Potential).|43.|59 X approximate tandem repeats.|Ser-rich.					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)					CAGGACACTTGTGACCACTTC	0.463												
PLOD3	8985	broad.mit.edu	37	7	100853686	100853686	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100853686G>A	uc003uyd.2	-	14	1996	c.1540C>T	c.(1540-1542)CGG>TGG	p.R514W	PLOD3_uc010lhs.2_Missense_Mutation_p.R79W	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	514					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCAGGAGCCGGCCAAATTCA	0.637												
LHFPL3	375612	broad.mit.edu	37	7	103969672	103969672	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:103969672G>A	uc003vce.2	+	1	569	c.445G>A	c.(445-447)GCT>ACT	p.A149T	LHFPL3_uc003vcf.2_Missense_Mutation_p.A149T	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	135	Helical; (Potential).					integral to membrane					0						GCTCACCTCCGGTGAGTGCGC	0.647												
SRPK2	6733	broad.mit.edu	37	7	104773469	104773469	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:104773469C>A	uc003vct.2	-	11	1780	c.1593G>T	c.(1591-1593)CTG>CTT	p.L531L	SRPK2_uc003vcu.2_Silent_p.L531L|SRPK2_uc003vcv.2_Silent_p.L542L|SRPK2_uc003vcw.1_Silent_p.L531L|SRPK2_uc003vcs.1_5'Flank	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	531	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						AAGCATTTCCCAGGTCAGCAA	0.453												
C7orf60	154743	broad.mit.edu	37	7	112462111	112462111	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:112462111A>T	uc003vgo.1	-	5	1033	c.906T>A	c.(904-906)TTT>TTA	p.F302L	C7orf60_uc011kms.1_Missense_Mutation_p.F328L	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	302										ovary(2)|skin(1)	3						TGAAGCGTTTAAAGCCCAGGG	0.388												
MET	4233	broad.mit.edu	37	7	116381017	116381017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:116381017C>T	uc003vij.2	+	5	1826	c.1639C>T	c.(1639-1641)CGA>TGA	p.R547*	MET_uc010lkh.2_Nonsense_Mutation_p.R547*|MET_uc011knc.1_Nonsense_Mutation_p.R547*|MET_uc011knd.1_Nonsense_Mutation_p.R547*|MET_uc011kne.1_Nonsense_Mutation_p.R519*|MET_uc011knf.1_Nonsense_Mutation_p.R547*|MET_uc011kng.1_Nonsense_Mutation_p.R547*|MET_uc011knh.1_Nonsense_Mutation_p.R547*|MET_uc011kni.1_Nonsense_Mutation_p.R547*|MET_uc011knj.1_Nonsense_Mutation_p.R117*|MET_uc011knb.1_Nonsense_Mutation_p.R547*	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	547	Extracellular (Potential).				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAAATGTGTGCGATCGGAGGA	0.507			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)			
TSPAN12	23554	broad.mit.edu	37	7	120428948	120428948	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:120428948A>C	uc003vjk.2	-	8	990	c.616T>G	c.(616-618)TGT>GGT	p.C206G	TSPAN12_uc010lkj.2_Missense_Mutation_p.C79G	NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	206	Extracellular (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					TTCTTCCCACAACCCTGTAAA	0.378												
TSPAN12	23554	broad.mit.edu	37	7	120455798	120455798	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:120455798A>G	uc003vjk.2	-	5	719	c.345T>C	c.(343-345)TAT>TAC	p.Y115Y		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	115	Extracellular (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					GTTCCTGTTCATATGTCCAAA	0.294												
IQUB	154865	broad.mit.edu	37	7	123119935	123119935	+	Missense_Mutation	SNP	T	T	C	rs111558568		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:123119935T>C	uc003vkn.2	-	8	1901	c.1324A>G	c.(1324-1326)ACT>GCT	p.T442A	IQUB_uc003vko.2_Missense_Mutation_p.T442A|IQUB_uc010lkt.2_Intron|IQUB_uc003vkp.1_Missense_Mutation_p.T442A	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	442										ovary(3)|large_intestine(1)	4						ATTATCTGAGTCTCTTTTTCC	0.398												
FLNC	2318	broad.mit.edu	37	7	128470736	128470736	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:128470736C>T	uc003vnz.3	+	1	254	c.45C>T	c.(43-45)GGC>GGT	p.G15G	FLNC_uc003voa.3_Silent_p.G15G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	15	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCGGCCTGGGCGATGAGACAG	0.468												
FLNC	2318	broad.mit.edu	37	7	128493858	128493858	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:128493858G>A	uc003vnz.3	+	39	6660	c.6451G>A	c.(6451-6453)GGC>AGC	p.G2151S	FLNC_uc003voa.3_Missense_Mutation_p.G2118S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2151					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CGCCACCATCGGCAGCACCTG	0.667												
MGAM	8972	broad.mit.edu	37	7	141750592	141750592	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:141750592C>A	uc003vwy.2	+	24	2787	c.2733C>A	c.(2731-2733)AGC>AGA	p.S911R		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	911	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGAACCTAGCAATGTTACAG	0.398												
OR2A5	393046	broad.mit.edu	37	7	143748314	143748314	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:143748314C>A	uc011ktw.1	+	1	820	c.820C>A	c.(820-822)CTT>ATT	p.L274I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					GCAGAAGGTCCTTTCCCTGTT	0.547												
ZNF467	168544	broad.mit.edu	37	7	149461869	149461869	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:149461869G>A	uc003wgd.2	-	5	1863	c.1722C>T	c.(1720-1722)GAC>GAT	p.D574D	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAAGGGCGGCGTCCGGGGCCG	0.701												
ZNF862	643641	broad.mit.edu	37	7	149558562	149558562	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:149558562G>T	uc010lpn.2	+	7	2505	c.2313G>T	c.(2311-2313)GCG>GCT	p.A771A	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	771					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						AGGAAGGTGCGGCGCCTCTGG	0.607												
ZNF775	285971	broad.mit.edu	37	7	150094403	150094403	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:150094403G>A	uc003whf.1	+	3	959	c.834G>A	c.(832-834)CCG>CCA	p.P278P		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	zinc finger protein 775	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgggcgagccgcgccAGTTCA	0.438												
ATG9B	285973	broad.mit.edu	37	7	150720577	150720577	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:150720577C>T	uc011kvc.1	-	3	690	c.614G>A	c.(613-615)CGG>CAG	p.R205Q	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	205	Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGCCATTCCGCTGGTGGTA	0.632												
MLL3	58508	broad.mit.edu	37	7	151879153	151879153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:151879153G>T	uc003wla.2	-	36	6011	c.5792C>A	c.(5791-5793)TCG>TAG	p.S1931*	MLL3_uc003wkz.2_Nonsense_Mutation_p.S992*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1931	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTAGATACCGATGATAAAGG	0.448			N		medulloblastoma							
WDR60	55112	broad.mit.edu	37	7	158716414	158716414	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:158716414G>A	uc003woe.3	+	17	2405	c.2247G>A	c.(2245-2247)ACG>ACA	p.T749T	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.T381T	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	749										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GGACCGCCACGTTTTCCACCG	0.502												
DLGAP2	9228	broad.mit.edu	37	8	1645405	1645405	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:1645405C>T	uc003wpl.2	+	11	2746	c.2649C>T	c.(2647-2649)TTC>TTT	p.F883F	DLGAP2_uc003wpm.2_Silent_p.F869F	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	962					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCATGAAGTTCGACGAGCTGC	0.642												
ARHGEF10	9639	broad.mit.edu	37	8	1851600	1851600	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:1851600G>A	uc003wpr.2	+	16	1982	c.1804G>A	c.(1804-1806)GAA>AAA	p.E602K	ARHGEF10_uc003wpq.1_Missense_Mutation_p.E626K|ARHGEF10_uc003wps.2_Missense_Mutation_p.E564K|ARHGEF10_uc003wpt.2_Missense_Mutation_p.E478K|ARHGEF10_uc003wpv.2_Missense_Mutation_p.E335K|ARHGEF10_uc010lre.2_Missense_Mutation_p.E282K	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	627					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGCCATAAACGAAAGATACCT	0.398												
CSMD1	64478	broad.mit.edu	37	8	3224595	3224595	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:3224595T>C	uc011kwk.1	-	20	3467	c.3077A>G	c.(3076-3078)GAC>GGC	p.D1026G	CSMD1_uc011kwj.1_Missense_Mutation_p.D418G|CSMD1_uc003wqe.2_Missense_Mutation_p.D182G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1026	Extracellular (Potential).|CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AATTGAGAAGTCTGATATAAA	0.478												
LGI3	203190	broad.mit.edu	37	8	22005848	22005848	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:22005848T>C	uc003xav.2	-	8	1761	c.1472A>G	c.(1471-1473)CAG>CGG	p.Q491R	LGI3_uc010ltu.2_Missense_Mutation_p.Q467R	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	491	EAR 6.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CTGGTAGATCTGGGTGAAGGA	0.652												
LOXL2	4017	broad.mit.edu	37	8	23198656	23198656	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:23198656G>A	uc003xdh.1	-	4	931	c.592C>T	c.(592-594)CGC>TGC	p.R198C	uc003xdj.2_RNA|uc003xdi.2_RNA	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	198	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACTGGGGTGCGCTTGCGGTAG	0.567												
PTK2B	2185	broad.mit.edu	37	8	27278190	27278190	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:27278190C>T	uc003xfn.1	+	9	1208	c.400C>T	c.(400-402)CGC>TGC	p.R134C	PTK2B_uc003xfo.1_Missense_Mutation_p.R134C|PTK2B_uc003xfp.1_Missense_Mutation_p.R134C|PTK2B_uc003xfq.1_Missense_Mutation_p.R134C	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	134	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCTTCAAATCCGCTACTTGCC	0.493												
PTK2B	2185	broad.mit.edu	37	8	27288462	27288462	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:27288462G>A	uc003xfn.1	+	13	1547	c.739G>A	c.(739-741)GTC>ATC	p.V247I	PTK2B_uc003xfo.1_Missense_Mutation_p.V247I|PTK2B_uc003xfp.1_Missense_Mutation_p.V247I|PTK2B_uc003xfq.1_Missense_Mutation_p.V247I|PTK2B_uc010luq.1_Missense_Mutation_p.V18I|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	247	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGAGGAGTGCGTCATGAAGTT	0.582												
EXTL3	2137	broad.mit.edu	37	8	28573610	28573610	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:28573610G>A	uc003xgz.1	+	3	627	c.34G>A	c.(34-36)GCG>ACG	p.A12T		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	12	Cytoplasmic (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GAATGGGGGCGCGGGGAACGG	0.607												
EXTL3	2137	broad.mit.edu	37	8	28608343	28608343	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:28608343G>A	uc003xgz.1	+	7	3313	c.2720G>A	c.(2719-2721)CGC>CAC	p.R907H		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	907	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCAAGACACGCCTGCCCCAT	0.562												
RAB11FIP1	80223	broad.mit.edu	37	8	37729956	37729956	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:37729956C>T	uc003xkm.1	-	4	2408	c.2364G>A	c.(2362-2364)ATG>ATA	p.M788I	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.M117I|RAB11FIP1_uc003xko.1_Missense_Mutation_p.M117I|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	788					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCAGCTTCCGCATCATGGAAT	0.547												
MYST3	7994	broad.mit.edu	37	8	41794925	41794925	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:41794925G>A	uc010lxb.2	-	17	3745	c.3201C>T	c.(3199-3201)ATC>ATT	p.I1067I	MYST3_uc010lxc.2_Silent_p.I1067I|MYST3_uc003xon.3_Silent_p.I1067I	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1067					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CTTCTTCATCGATCTCAAACG	0.433												
MYST3	7994	broad.mit.edu	37	8	41906483	41906483	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:41906483C>T	uc010lxb.2	-	3	557	c.13G>A	c.(13-15)GCA>ACA	p.A5T	MYST3_uc010lxc.2_Missense_Mutation_p.A5T|MYST3_uc003xon.3_Missense_Mutation_p.A5T|MYST3_uc010lxd.2_Missense_Mutation_p.A5T	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	5	Required for activation of RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AGCGGGTTTGCGAGTTTTACC	0.413												
RNF170	81790	broad.mit.edu	37	8	42742939	42742939	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:42742939G>A	uc003xpo.2	-	2	546	c.69C>T	c.(67-69)AGC>AGT	p.S23S	RNF170_uc011lcx.1_Silent_p.S23S|RNF170_uc010lxp.2_Intron|RNF170_uc003xpm.2_Silent_p.S23S|RNF170_uc003xpp.2_5'UTR|RNF170_uc003xpn.2_5'UTR|RNF170_uc003xpq.3_Silent_p.S23S	NM_001160223	NP_001153695	Q96K19	RN170_HUMAN	ring finger protein 170 isoform a	23						integral to membrane	zinc ion binding				0	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTACTTGGTCGCTTACTCCTT	0.383												
POTEA	340441	broad.mit.edu	37	8	43155752	43155752	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:43155752T>G	uc003xpz.1	+	4	723	c.680T>G	c.(679-681)CTT>CGT	p.L227R	POTEA_uc003xqa.1_Missense_Mutation_p.L227R	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	227										ovary(1)	1						TTAAATGCACTTGATAGGTTT	0.318												
PXDNL	137902	broad.mit.edu	37	8	52321056	52321056	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:52321056C>T	uc003xqu.3	-	17	3229	c.3128G>A	c.(3127-3129)GGC>GAC	p.G1043D	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1043					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTTAATGATGCCTGCATTCAC	0.498												
PXDNL	137902	broad.mit.edu	37	8	52321771	52321771	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:52321771G>A	uc003xqu.3	-	17	2514	c.2413C>T	c.(2413-2415)CAC>TAC	p.H805Y	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	805					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGCCCCAGTGCATGAGCATG	0.711												
RB1CC1	9821	broad.mit.edu	37	8	53596230	53596230	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:53596230C>T	uc003xre.3	-	5	806	c.248G>A	c.(247-249)CGT>CAT	p.R83H	RB1CC1_uc003xrf.3_Missense_Mutation_p.R83H	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	83					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGCAGGTGGACGATCACATAA	0.284												
NPBWR1	2831	broad.mit.edu	37	8	53852972	53852972	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:53852972G>A	uc011ldu.1	+	1	505	c.505G>A	c.(505-507)GTC>ATC	p.V169I		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	169	Helical; Name=4; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGTCACACTCGTCGTGCTGCC	0.726												
OPRK1	4986	broad.mit.edu	37	8	54163406	54163406	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:54163406C>T	uc003xrh.1	-	1	567	c.192G>A	c.(190-192)GCG>GCA	p.A64A	OPRK1_uc003xri.1_Silent_p.A64A|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	64	Helical; Name=1; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CGGAGTAGACCGCCGTGATGA	0.701												
RGS20	8601	broad.mit.edu	37	8	54852152	54852152	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:54852152G>A	uc003xrp.2	+	3	619	c.527G>A	c.(526-528)CGG>CAG	p.R176Q	RGS20_uc003xrq.2_Missense_Mutation_p.R61Q|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrs.2_Missense_Mutation_p.R29Q|RGS20_uc003xrt.2_Intron	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	176					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GGATCAGAGCGGATGGAGATG	0.647												
XKR4	114786	broad.mit.edu	37	8	56015229	56015229	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:56015229T>G	uc003xsf.2	+	1	213	c.181T>G	c.(181-183)TGC>GGC	p.C61G		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	61						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			cggcggcggctgctcgcgctg	0.244												
TMEM68	137695	broad.mit.edu	37	8	56663664	56663664	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:56663664T>C	uc003xsg.1	-	3	615	c.546A>G	c.(544-546)AAA>AAG	p.K182K	TMEM68_uc003xsh.1_Silent_p.K182K	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	transmembrane protein 68	182						integral to membrane	acyltransferase activity			skin(1)	1			Epithelial(17;0.000361)|all cancers(17;0.00326)			TTTCAACACATTTTTCTCTTG	0.378												
BHLHE22	27319	broad.mit.edu	37	8	65493419	65493419	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:65493419C>T	uc003xvi.2	+	1	606	c.72C>T	c.(70-72)AGC>AGT	p.S24S	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AGAGCCTGAGCGCCTCCACCT	0.731												
DNAJC5B	85479	broad.mit.edu	37	8	66989062	66989062	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:66989062A>G	uc003xvs.1	+	4	578	c.287A>G	c.(286-288)GAC>GGC	p.D96G	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	96					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CAGTTTGGAGACGAAAACGTT	0.448												
SULF1	23213	broad.mit.edu	37	8	70514037	70514037	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:70514037G>A	uc010lza.1	+	10	1751	c.1034G>A	c.(1033-1035)CGT>CAT	p.R345H	SULF1_uc003xyd.2_Missense_Mutation_p.R345H|SULF1_uc003xye.2_Missense_Mutation_p.R345H|SULF1_uc003xyf.2_Missense_Mutation_p.R345H|SULF1_uc003xyg.2_Missense_Mutation_p.R345H|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	345					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTTTTATTCGTGGTCCAAGT	0.413												
TRPA1	8989	broad.mit.edu	37	8	72967786	72967786	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:72967786T>C	uc003xza.2	-	12	1589	c.1414A>G	c.(1414-1416)ACG>GCG	p.T472A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	472	ANK 11.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AGAAGCCTCGTATCACTTATG	0.388												
ESRP1	54845	broad.mit.edu	37	8	95690446	95690446	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:95690446C>T	uc003ygq.3	+	13	1850	c.1667C>T	c.(1666-1668)TCC>TTC	p.S556F	ESRP1_uc003ygr.3_Missense_Mutation_p.S552F|ESRP1_uc003ygs.3_Missense_Mutation_p.S552F|ESRP1_uc003ygt.3_Missense_Mutation_p.S556F|ESRP1_uc003ygu.3_Missense_Mutation_p.S552F|ESRP1_uc003ygv.2_Missense_Mutation_p.S396F|ESRP1_uc003ygw.2_Missense_Mutation_p.S396F	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	556					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TCTCCTCCCTCCTACACATTT	0.478												
VPS13B	157680	broad.mit.edu	37	8	100654601	100654601	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:100654601C>A	uc003yiv.2	+	34	5969	c.5858C>A	c.(5857-5859)CCT>CAT	p.P1953H	VPS13B_uc003yiw.2_Missense_Mutation_p.P1928H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1953					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGCTAGAGCCTTTTCTGTAC	0.463												
ANKRD46	157567	broad.mit.edu	37	8	101541845	101541845	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:101541845C>T	uc003yjm.2	-	3	421	c.217G>A	c.(217-219)GCC>ACC	p.A73T	ANKRD46_uc003yjn.1_Missense_Mutation_p.A73T|ANKRD46_uc003yjo.1_Missense_Mutation_p.A73T|ANKRD46_uc003yjp.1_Missense_Mutation_p.A73T	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	73	ANK 2.					integral to membrane					0	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			TAATCTGTGGCCAGAAGATCG	0.458												
DCAF13	25879	broad.mit.edu	37	8	104427341	104427341	+	Silent	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:104427341G>T	uc003yln.2	+	1	400	c.123G>T	c.(121-123)GGG>GGT	p.G41G	SLC25A32_uc003yll.2_5'UTR|SLC25A32_uc011lhr.1_5'UTR|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						GTACTGAGGGGGCAAGAACGG	0.657												
RIMS2	9699	broad.mit.edu	37	8	104709417	104709417	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:104709417A>G	uc003ylp.2	+	2	419	c.280A>G	c.(280-282)ATC>GTC	p.I94V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	125	FYVE-type.|RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACCTGTGGTATCTGCCACAA	0.448										HNSCC(12;0.0054)		
RIMS2	9699	broad.mit.edu	37	8	105026793	105026793	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:105026793G>A	uc003yls.2	+	17	2745	c.2504G>A	c.(2503-2505)CGA>CAA	p.R835Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R1095Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R909Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R909Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R934Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1157					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCGCAGGACGAAGGGGCCGA	0.433										HNSCC(12;0.0054)		
KCNV1	27012	broad.mit.edu	37	8	110980792	110980792	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:110980792T>C	uc003ynr.3	-	3	1370	c.1028A>G	c.(1027-1029)TAC>TGC	p.Y343C	KCNV1_uc010mcw.2_Missense_Mutation_p.Y343C	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	343	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GACTTCTTCGTAACACTGGGT	0.378												
CSMD3	114788	broad.mit.edu	37	8	113314033	113314033	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:113314033G>A	uc003ynu.2	-	53	8588	c.8429C>T	c.(8428-8430)ACC>ATC	p.T2810I	CSMD3_uc003yns.2_Missense_Mutation_p.T2012I|CSMD3_uc003ynt.2_Missense_Mutation_p.T2770I|CSMD3_uc011lhx.1_Missense_Mutation_p.T2641I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2810	Extracellular (Potential).|Sushi 17.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TAGGCATCTGGTTTCAGATTC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113518929	113518929	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:113518929G>A	uc003ynu.2	-	29	5045	c.4886C>T	c.(4885-4887)GCG>GTG	p.A1629V	CSMD3_uc003yns.2_Missense_Mutation_p.A901V|CSMD3_uc003ynt.2_Missense_Mutation_p.A1589V|CSMD3_uc011lhx.1_Missense_Mutation_p.A1525V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1629	Extracellular (Potential).|CUB 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCTGATGAACGCCAAGGAGAT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113585761	113585761	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:113585761C>A	uc003ynu.2	-	24	4170	c.4011G>T	c.(4009-4011)GGG>GGT	p.G1337G	CSMD3_uc003yns.2_Silent_p.G609G|CSMD3_uc003ynt.2_Silent_p.G1297G|CSMD3_uc011lhx.1_Silent_p.G1233G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1337	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTTCATCTGTCCCTTCAGTAT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116430571	116430571	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:116430571T>C	uc003ynz.2	-	5	3230	c.2771A>G	c.(2770-2772)CAG>CGG	p.Q924R	TRPS1_uc011lhy.1_Missense_Mutation_p.Q928R|TRPS1_uc003yny.2_Missense_Mutation_p.Q937R|TRPS1_uc010mcy.2_Missense_Mutation_p.Q924R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	924					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)			GTGAAGCTTCTGGTAGAGGCC	0.488									Langer-Giedion_syndrome			
COL14A1	7373	broad.mit.edu	37	8	121238900	121238900	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:121238900T>C	uc003yox.2	+	16	2164	c.1899T>C	c.(1897-1899)GAT>GAC	p.D633D	COL14A1_uc003yoy.2_Silent_p.D311D	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	633	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAGAAATTGATGAGGTGACGA	0.473												
WDR67	93594	broad.mit.edu	37	8	124121565	124121565	+	Silent	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:124121565A>G	uc003ypp.1	+	9	1308	c.1218A>G	c.(1216-1218)TTA>TTG	p.L406L	WDR67_uc011lig.1_Silent_p.L406L|WDR67_uc011lih.1_Silent_p.L296L|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Silent_p.L119L	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	406						centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAATGAATTACCAGATGGAT	0.294												
ATAD2	29028	broad.mit.edu	37	8	124359583	124359583	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:124359583C>T	uc003yqh.3	-	16	2069	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H	ATAD2_uc011lii.1_Missense_Mutation_p.R445H|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.R654H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTGGGTAGCGTCGTCGTAA	0.418												
ATAD2	29028	broad.mit.edu	37	8	124382200	124382200	+	Missense_Mutation	SNP	A	A	T	rs149848860	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:124382200A>T	uc003yqh.3	-	7	900	c.792T>A	c.(790-792)GAT>GAA	p.D264E	ATAD2_uc011lii.1_Missense_Mutation_p.D55E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D264E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	264	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			catcatcatcatcttcatcat	0.169												
TRMT12	55039	broad.mit.edu	37	8	125464363	125464363	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:125464363G>A	uc003yra.3	+	1	1316	c.1195G>A	c.(1195-1197)GCA>ACA	p.A399T		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	399					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCAGAATCTGCAGAAACTCG	0.488												
RNF139	11236	broad.mit.edu	37	8	125499032	125499032	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:125499032C>A	uc003yrc.2	+	2	1485	c.1142C>A	c.(1141-1143)TCT>TAT	p.S381Y		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	381					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCAGTGCCTCTCATGTGTCA	0.393									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			
TG	7038	broad.mit.edu	37	8	133920513	133920513	+	Silent	SNP	C	C	T	rs143023529		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:133920513C>T	uc003ytw.2	+	18	3971	c.3930C>T	c.(3928-3930)TAC>TAT	p.Y1310Y	TG_uc010mdw.2_Silent_p.Y69Y	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1310					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGCTGACTACGCGGATTTGC	0.597												
EPPK1	83481	broad.mit.edu	37	8	144940592	144940592	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144940592C>T	uc003zaa.1	-	2	14853	c.14840G>A	c.(14839-14841)CGC>CAC	p.R4947H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4947	Plectin 62.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCAGGTTGCGCACGGGGTC	0.726												
PLEC	5339	broad.mit.edu	37	8	144991177	144991177	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144991177G>A	uc003zaf.1	-	32	13393	c.13223C>T	c.(13222-13224)TCA>TTA	p.S4408L	PLEC_uc003zab.1_Missense_Mutation_p.S4271L|PLEC_uc003zac.1_Missense_Mutation_p.S4275L|PLEC_uc003zad.2_Missense_Mutation_p.S4271L|PLEC_uc003zae.1_Missense_Mutation_p.S4239L|PLEC_uc003zag.1_Missense_Mutation_p.S4249L|PLEC_uc003zah.2_Missense_Mutation_p.S4257L|PLEC_uc003zaj.2_Missense_Mutation_p.S4298L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4408	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGTGGGGTCTGACCAGGAGGC	0.672												
PLEC	5339	broad.mit.edu	37	8	144995188	144995188	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144995188G>A	uc003zaf.1	-	32	9382	c.9212C>T	c.(9211-9213)ACG>ATG	p.T3071M	PLEC_uc003zab.1_Missense_Mutation_p.T2934M|PLEC_uc003zac.1_Missense_Mutation_p.T2938M|PLEC_uc003zad.2_Missense_Mutation_p.T2934M|PLEC_uc003zae.1_Missense_Mutation_p.T2902M|PLEC_uc003zag.1_Missense_Mutation_p.T2912M|PLEC_uc003zah.2_Missense_Mutation_p.T2920M|PLEC_uc003zaj.2_Missense_Mutation_p.T2961M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3071	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTGCTCTGCCGTGAAGTATTC	0.602												
PLEC	5339	broad.mit.edu	37	8	144995398	144995398	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144995398T>C	uc003zaf.1	-	32	9172	c.9002A>G	c.(9001-9003)TAC>TGC	p.Y3001C	PLEC_uc003zab.1_Missense_Mutation_p.Y2864C|PLEC_uc003zac.1_Missense_Mutation_p.Y2868C|PLEC_uc003zad.2_Missense_Mutation_p.Y2864C|PLEC_uc003zae.1_Missense_Mutation_p.Y2832C|PLEC_uc003zag.1_Missense_Mutation_p.Y2842C|PLEC_uc003zah.2_Missense_Mutation_p.Y2850C|PLEC_uc003zaj.2_Missense_Mutation_p.Y2891C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3001	Globular 2.|Plectin 5.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TAGCTGCAGGTACGTGAGGTT	0.647												
GPAA1	8733	broad.mit.edu	37	8	145139352	145139352	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:145139352C>T	uc003zax.2	+	7	960	c.850C>T	c.(850-852)CTG>TTG	p.L284L	GPAA1_uc003zav.1_Silent_p.L162L|GPAA1_uc003zaw.1_Silent_p.L224L	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	284	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGGACCGCTGCAGGGCCT	0.657												
RECQL4	9401	broad.mit.edu	37	8	145738257	145738257	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:145738257C>T	uc003zdj.2	-	16	2760	c.2728G>A	c.(2728-2730)GTA>ATA	p.V910I		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	910					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AAAGCCTGTACGGTAAGCTGT	0.652			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
FOXD4	2298	broad.mit.edu	37	9	117822	117822	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:117822G>A	uc003zfz.2	-	1	596	c.298C>T	c.(298-300)CGG>TGG	p.R100W		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	100					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCGGCTGCCGGGCATCTTCA	0.682												
KIAA0020	9933	broad.mit.edu	37	9	2807900	2807900	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:2807900A>T	uc003zhp.1	-	17	1824	c.1728T>A	c.(1726-1728)TGT>TGA	p.C576*	KIAA0020_uc010mhc.1_Nonsense_Mutation_p.C575*|KIAA0020_uc003zhq.1_Nonsense_Mutation_p.C575*	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	576						endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		TTTTTGCAAAACAACCTGTAA	0.358												
ADAMTSL1	92949	broad.mit.edu	37	9	18777025	18777025	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:18777025A>G	uc003zne.3	+	19	2925	c.2798A>G	c.(2797-2799)AAG>AGG	p.K933R		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	933	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GGCTATCTCAAGATCCACCGC	0.657												
KIAA1161	57462	broad.mit.edu	37	9	34372554	34372554	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:34372554C>T	uc003zue.3	-	3	555	c.388G>A	c.(388-390)GCC>ACC	p.A130T		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	130	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCAGCAGGGCGCCATCGCGG	0.677												
VCP	7415	broad.mit.edu	37	9	35059794	35059794	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35059794C>T	uc003zvy.2	-	14	2089	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.R236H|VCP_uc010mki.1_Missense_Mutation_p.R522H	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	567					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGCAGCTTGGCGGGCCTGTAG	0.413												
PIGO	84720	broad.mit.edu	37	9	35091530	35091530	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35091530C>G	uc003zwd.2	-	7	2750	c.2354G>C	c.(2353-2355)GGC>GCC	p.G785A	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.G348A	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	785					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTGGGGGGGCCTGAGAAGGG	0.597												
SIT1	27240	broad.mit.edu	37	9	35650182	35650182	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35650182C>A	uc003zxe.1	-	4	453	c.356G>T	c.(355-357)AGG>ATG	p.R119M	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	119	Cytoplasmic (Potential).				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGACTCACCCTGGCAGGGCC	0.577												
NPR2	4882	broad.mit.edu	37	9	35792877	35792877	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35792877G>A	uc003zyd.2	+	1	472	c.472G>A	c.(472-474)GGG>AGG	p.G158R	NPR2_uc010mlb.2_Missense_Mutation_p.G158R	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	158	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GACACTACACGGGCACTTCAA	0.567												
PGM5	5239	broad.mit.edu	37	9	71002450	71002450	+	Missense_Mutation	SNP	G	G	T	rs146547812	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:71002450G>T	uc004agr.2	+	4	872	c.643G>T	c.(643-645)GGT>TGT	p.G215C		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	215					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						TGCCATCAAGGGTTTGCTGAC	0.438												
MAMDC2	256691	broad.mit.edu	37	9	72741207	72741207	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:72741207A>T	uc004ahm.2	+	6	1393	c.776A>T	c.(775-777)AAT>ATT	p.N259I	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	259	MAM 2.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						GGGAATGACAATGTCTTTTCC	0.557												
PRUNE2	158471	broad.mit.edu	37	9	79322953	79322953	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:79322953G>A	uc010mpk.2	-	8	4361	c.4237C>T	c.(4237-4239)CGT>TGT	p.R1413C		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1413					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TGCACATCACGGGAGTCTAGA	0.453												
VPS13A	23230	broad.mit.edu	37	9	79824434	79824434	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:79824434C>T	uc004akr.2	+	6	741	c.481C>T	c.(481-483)CGT>TGT	p.R161C	VPS13A_uc004akp.3_Missense_Mutation_p.R161C|VPS13A_uc004akq.3_Missense_Mutation_p.R161C|VPS13A_uc004aks.2_Missense_Mutation_p.R161C	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	161			R -> H (in a colorectal cancer sample; somatic mutation).		Golgi to endosome transport|protein transport	intracellular	protein binding	p.R161H(1)		pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TATCCATATTCGTTATGAAGA	0.274												
CEP78	84131	broad.mit.edu	37	9	80858424	80858424	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:80858424G>A	uc004akx.2	+	5	926	c.650G>A	c.(649-651)CGC>CAC	p.R217H	CEP78_uc004aky.3_Missense_Mutation_p.R217H|CEP78_uc010mpp.2_Missense_Mutation_p.R217H|CEP78_uc011lsp.1_Missense_Mutation_p.R130H	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	217					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						GAGAGTCTTCGCTATAGGAGA	0.408												
ZCCHC6	79670	broad.mit.edu	37	9	88925684	88925684	+	Silent	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:88925684T>G	uc004aoq.2	-	18	3530	c.3315A>C	c.(3313-3315)CCA>CCC	p.P1105P	ZCCHC6_uc010mqe.2_Silent_p.P43P|ZCCHC6_uc011ltf.1_Intron|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Silent_p.P869P|ZCCHC6_uc004aou.2_Silent_p.P1105P	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1105					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						ACTTCACAATTGGCACCTTTG	0.343												
S1PR3	1903	broad.mit.edu	37	9	91616486	91616486	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:91616486C>T	uc004aqe.2	+	2	767	c.371C>T	c.(370-372)GCG>GTG	p.A124V		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	124	Helical; Name=3; (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						GCCCTTGGGGCGTCCACCTGC	0.567											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FGD3	89846	broad.mit.edu	37	9	95738814	95738814	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:95738814C>T	uc004asw.2	+	3	904	c.276C>T	c.(274-276)TGC>TGT	p.C92C	FGD3_uc004asx.2_Silent_p.C92C|FGD3_uc004asz.2_Silent_p.C92C	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	92					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						ACTTTCCCTGCGAGGAGGGCT	0.652												
ZNF169	169841	broad.mit.edu	37	9	97062749	97062749	+	Silent	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:97062749C>A	uc004aum.1	+	5	1014	c.909C>A	c.(907-909)TCC>TCA	p.S303S		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	303	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GGTATACATCCTCTCTCACTA	0.552												
PTCH1	5727	broad.mit.edu	37	9	98238403	98238403	+	Silent	SNP	G	G	A	rs2066830	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:98238403G>A	uc004avk.3	-	12	1829	c.1641C>T	c.(1639-1641)AGC>AGT	p.S547S	PTCH1_uc010mro.2_Silent_p.S396S|PTCH1_uc010mrp.2_Silent_p.S396S|PTCH1_uc010mrq.2_Silent_p.S396S|PTCH1_uc004avl.3_Silent_p.S396S|PTCH1_uc010mrr.2_Silent_p.S481S|PTCH1_uc004avm.3_Silent_p.S546S|PTCH1_uc010mrs.1_Silent_p.S215S	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	547	SSD.|Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGAGGGCCACGCTGGCTCCTG	0.592									Basal_Cell_Nevus_syndrome			
TBC1D2	55357	broad.mit.edu	37	9	100961816	100961816	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:100961816C>T	uc011lvb.1	-	13	2814	c.2634G>A	c.(2632-2634)CTG>CTA	p.L878L	TBC1D2_uc004ayp.2_Silent_p.L418L|TBC1D2_uc004ayq.2_Silent_p.L867L|TBC1D2_uc004ayr.2_Silent_p.L660L|TBC1D2_uc004ayo.3_3'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	878	Potential.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCAGCTGCCGCAGCTGTTTCA	0.637												
ANKS6	203286	broad.mit.edu	37	9	101518711	101518711	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:101518711T>C	uc004ayu.2	-	12	2338	c.2317A>G	c.(2317-2319)ACA>GCA	p.T773A	ANKS6_uc004ayt.2_Missense_Mutation_p.T472A|ANKS6_uc004ayv.1_Missense_Mutation_p.T236A|ANKS6_uc004ayw.1_Missense_Mutation_p.T356A|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	773	SAM.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				CCCTCATCTGTGATGGTGCCA	0.567												
LPPR1	54886	broad.mit.edu	37	9	104071658	104071658	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:104071658G>T	uc004bbb.2	+	5	950	c.551G>T	c.(550-552)GGG>GTG	p.G184V	LPPR1_uc011lvi.1_Missense_Mutation_p.G160V|LPPR1_uc004bbc.2_Missense_Mutation_p.G184V|LPPR1_uc010mtc.2_Missense_Mutation_p.G168V	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	184						integral to membrane	catalytic activity				0						ATTTGTACTGGGGACCTGGAA	0.498												
ALDOB	229	broad.mit.edu	37	9	104193086	104193086	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:104193086C>A	uc004bbk.2	-	2	166	c.84G>T	c.(82-84)AAG>AAT	p.K28N		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	28					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CCAGGATCCCCTTTCCATTGG	0.443												
GRIN3A	116443	broad.mit.edu	37	9	104432344	104432344	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:104432344T>C	uc004bbp.1	-	3	2951	c.2350A>G	c.(2350-2352)AAG>GAG	p.K784E	GRIN3A_uc004bbq.1_Missense_Mutation_p.K784E	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	784	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTATTACCTTGGGGTCATGT	0.383												
PAPPA	5069	broad.mit.edu	37	9	119097332	119097332	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:119097332C>T	uc004bjn.2	+	13	3971	c.3590C>T	c.(3589-3591)ACC>ATC	p.T1197I	PAPPA_uc011lxp.1_Missense_Mutation_p.T892I|PAPPA_uc011lxq.1_Missense_Mutation_p.T572I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1197					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AGAGGGGAGACCTACAGCCCT	0.617												
DAB2IP	153090	broad.mit.edu	37	9	124329464	124329464	+	Translation_Start_Site	SNP	C	C	T	rs142520673	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:124329464C>T	uc004bln.2	+	1	66	c.-3C>T	c.(-5--1)CACGC>CATGC			NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform						activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						GGGGCCCACACGCCATGGAGC	0.582												
MORN5	254956	broad.mit.edu	37	9	124936889	124936889	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:124936889G>A	uc004blw.2	+	4	484	c.422G>A	c.(421-423)CGC>CAC	p.R141H	MORN5_uc011lyn.1_Missense_Mutation_p.R141H|MORN5_uc011lyo.1_3'UTR	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	141											0						TATAGGAACCGCTTTCTAAGA	0.458												
PTGS1	5742	broad.mit.edu	37	9	125152626	125152626	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:125152626T>C	uc004bmg.1	+	10	1579	c.1444_splice	c.e10+2	p.G482_splice	PTGS1_uc011lys.1_Splice_Site_p.G420_splice|PTGS1_uc010mwb.1_Splice_Site_p.G336_splice|PTGS1_uc004bmf.1_Splice_Site_p.G445_splice|PTGS1_uc004bmh.1_Splice_Site_p.G373_splice|PTGS1_uc011lyt.1_Splice_Site_p.G373_splice	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1						cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AGCTCGTAGGTGAGCAGCTGT	0.323												
NR5A1	2516	broad.mit.edu	37	9	127265430	127265430	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:127265430C>T	uc004boo.1	-	3	359	c.172G>A	c.(172-174)GAC>AAC	p.D58N		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	58	NR C4-type.|Nuclear receptor.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						TGCGTCTTGTCGATCTTGCAG	0.657												
FAM102A	399665	broad.mit.edu	37	9	130710444	130710444	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:130710444C>T	uc004bsx.1	-	6	601	c.522G>A	c.(520-522)ACG>ACA	p.T174T	FAM102A_uc004bsw.1_Silent_p.T32T|FAM102A_uc004bsy.1_Translation_Start_Site	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	174	Ser-rich.									ovary(1)	1						CACCCTTACACGTCAGCTGCA	0.627												
NUP214	8021	broad.mit.edu	37	9	134103717	134103717	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134103717G>A	uc004cag.2	+	33	6184	c.6073G>A	c.(6073-6075)GGG>AGG	p.G2025R	NUP214_uc004cah.2_Missense_Mutation_p.G2015R|NUP214_uc004cai.2_Missense_Mutation_p.G1455R|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.G851R	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	2025	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGGAGGATTCGGGTAAGCCCC	0.597			T	DEK|SET|ABL1	AML|T-ALL							
BAT2L1	84726	broad.mit.edu	37	9	134319684	134319684	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134319684G>A	uc004can.3	+	5	637	c.582G>A	c.(580-582)TCG>TCA	p.S194S	BAT2L1_uc004cam.1_Silent_p.S194S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	194							protein binding				0						TAGATCTGTCGTATGGGCCAG	0.557												
GTF3C5	9328	broad.mit.edu	37	9	135929231	135929231	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:135929231G>A	uc004cci.3	+	6	1227	c.890G>A	c.(889-891)CGC>CAC	p.R297H	GTF3C5_uc010mzz.2_Missense_Mutation_p.R172H|GTF3C5_uc004ccj.3_Missense_Mutation_p.R297H	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	297						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGCCCCTGGCGCAGCCTATGG	0.493												
RALGDS	5900	broad.mit.edu	37	9	136031317	136031317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:136031317C>T	uc011mcw.1	-	5	513	c.232G>A	c.(232-234)GTA>ATA	p.V78I	GBGT1_uc004ccx.2_Silent_p.Q18Q|GBGT1_uc010nab.2_Silent_p.Q65Q|GBGT1_uc011mcx.1_Silent_p.Q48Q|GBGT1_uc004ccw.2_Silent_p.Q65Q|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Silent_p.Q65Q	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	Error:Variant_position_missing_in_Q12967_after_alignment					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTGAGGGTACTGTGACCTGC	0.562			T	CIITA	PMBL|Hodgkin Lymphona|							
SNAPC4	6621	broad.mit.edu	37	9	139274297	139274297	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:139274297C>T	uc004chh.2	-	20	2528	c.2519G>A	c.(2518-2520)AGC>AAC	p.S840N		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	840					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ACCTGGGGTGCTCTGGGCACT	0.597												
SNAPC4	6621	broad.mit.edu	37	9	139277746	139277746	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:139277746C>T	uc004chh.2	-	15	1884	c.1875G>A	c.(1873-1875)ACG>ACA	p.T625T		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	625					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCACCGGACTCGTCTCCTCTC	0.721												
UAP1L1	91373	broad.mit.edu	37	9	139973715	139973715	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:139973715A>G	uc010ncb.2	+	5	883	c.851A>G	c.(850-852)GAA>GGA	p.E284G	UAP1L1_uc004cla.3_Missense_Mutation_p.E161G	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like	284							nucleotidyltransferase activity			ovary(1)	1	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CAGGTGGTGGAAAAGGCATAC	0.711												
MAN1B1	11253	broad.mit.edu	37	9	139990814	139990814	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:139990814G>A	uc004cld.2	+	4	626	c.591G>A	c.(589-591)CCG>CCA	p.P197P	MAN1B1_uc004clc.2_Silent_p.P98P|MAN1B1_uc011meo.1_Silent_p.P98P|MAN1B1_uc011mep.1_Silent_p.P197P|MAN1B1_uc010ncc.2_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	197	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCCCGCCCGGAAGGAGATC	0.597												
COBRA1	25920	broad.mit.edu	37	9	140166984	140166984	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:140166984C>T	uc004cmm.3	+	12	1716	c.1513C>T	c.(1513-1515)CTG>TTG	p.L505L		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	505					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CCGGCACGCGCTGCGGCTCCT	0.701												
ARRDC1	92714	broad.mit.edu	37	9	140508883	140508883	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:140508883G>A	uc004cns.2	+	6	825	c.751G>A	c.(751-753)GCC>ACC	p.A251T	ARRDC1_uc004cnt.2_Missense_Mutation_p.A126T|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.A231T|ARRDC1_uc004cnw.2_Missense_Mutation_p.A126T|ARRDC1_uc004cnp.1_Missense_Mutation_p.A251T|ARRDC1_uc004cnq.1_Missense_Mutation_p.A233T|ARRDC1_uc011mfb.1_Missense_Mutation_p.A126T|ARRDC1_uc004cnx.1_Missense_Mutation_p.A126T|ARRDC1_uc004cny.2_RNA	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	251											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GCCCCAGTCGGCCCTGCCGGG	0.682												
GYG2	8908	broad.mit.edu	37	X	2795326	2795326	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:2795326C>T	uc004cqs.1	+	11	1604	c.1322C>T	c.(1321-1323)CCC>CTC	p.P441L	GYG2_uc004cqt.1_Missense_Mutation_p.P410L|GYG2_uc004cqu.1_Missense_Mutation_p.P409L|GYG2_uc004cqv.1_Intron|GYG2_uc004cqw.1_Missense_Mutation_p.P401L|GYG2_uc004cqx.1_Intron|GYG2_uc010ndc.1_Intron	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	441					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCAGGGACCCCAGTCTGCAG	0.547												
NLGN4X	57502	broad.mit.edu	37	X	5821694	5821694	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:5821694G>A	uc010ndh.2	-	5	1526	c.1025C>T	c.(1024-1026)CCG>CTG	p.P342L	NLGN4X_uc004crp.2_Missense_Mutation_p.P362L|NLGN4X_uc004crq.2_Missense_Mutation_p.P342L|NLGN4X_uc010ndi.2_Missense_Mutation_p.P379L|NLGN4X_uc004crr.2_Missense_Mutation_p.P342L|NLGN4X_uc010ndj.2_Missense_Mutation_p.P342L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	342	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GTCGATCACCGGCCCGAAGGC	0.587												
TBL1X	6907	broad.mit.edu	37	X	9661211	9661211	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:9661211C>T	uc010ndq.2	+	10	1282	c.914C>T	c.(913-915)ACG>ATG	p.T305M	TBL1X_uc004csq.3_Missense_Mutation_p.T254M|TBL1X_uc010ndr.2_Missense_Mutation_p.T254M|TBL1X_uc004csr.2_Missense_Mutation_p.T305M|TBL1X_uc004css.2_Missense_Mutation_p.T256M	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	305	WD 2.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				CTCTTGGCTACGGGTTCATAT	0.532												
SHROOM2	357	broad.mit.edu	37	X	9864116	9864116	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:9864116C>A	uc004csu.1	+	4	2258	c.2168C>A	c.(2167-2169)ACT>AAT	p.T723N		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	723	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GATCCAGACACTGTCCCCCAC	0.672												
ATXN3L	92552	broad.mit.edu	37	X	13337235	13337235	+	Silent	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:13337235A>C	uc010ned.2	-	1	1284	c.819T>G	c.(817-819)ACT>ACG	p.T273T		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	273					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						CTGAAGCAGGAGTTACACATG	0.438												
GPR64	10149	broad.mit.edu	37	X	19028750	19028750	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:19028750G>A	uc004cyx.2	-	17	1410	c.1246C>T	c.(1246-1248)CTG>TTG	p.L416L	GPR64_uc004cyy.2_Silent_p.L413L|GPR64_uc004cyz.2_Silent_p.L402L|GPR64_uc004czb.2_Silent_p.L416L|GPR64_uc004czc.2_Silent_p.L400L|GPR64_uc004czd.2_Silent_p.L392L|GPR64_uc004cze.2_Silent_p.L386L|GPR64_uc004czf.2_Silent_p.L378L|GPR64_uc004cza.2_Silent_p.L394L|GPR64_uc004cyw.2_Silent_p.L400L|GPR64_uc010nfj.2_Silent_p.L386L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	416	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					AGAGGGGCCAGCATGTCAGGC	0.522												
MAP3K15	389840	broad.mit.edu	37	X	19391783	19391783	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:19391783G>T	uc004czk.1	-	22	2866	c.1229C>A	c.(1228-1230)CCC>CAC	p.P410H	MAP3K15_uc004czj.1_Missense_Mutation_p.P370H|MAP3K15_uc004czi.1_5'Flank	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	935							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					TCCCTGTGTGGGCAGGGCCAG	0.677												
YY2	404281	broad.mit.edu	37	X	21875411	21875411	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:21875411C>T	uc011mjp.1	+	1	809	c.809C>T	c.(808-810)GCC>GTC	p.A270V	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.A488V|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	270	Mediates transcriptional repression.|C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GATTACGCCGCCATGAGAAAA	0.498												
PHEX	5251	broad.mit.edu	37	X	22095708	22095708	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:22095708A>G	uc004dah.2	+	5	754	c.551A>G	c.(550-552)AAG>AGG	p.K184R	PHEX_uc011mjr.1_Missense_Mutation_p.K184R|PHEX_uc011mjs.1_Missense_Mutation_p.K87R	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	184	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						TCAGAGAGAAAGTTCAGCCTT	0.488												
ZFX	7543	broad.mit.edu	37	X	24228545	24228545	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:24228545C>T	uc004dbf.2	+	9	1728	c.1470C>T	c.(1468-1470)TGC>TGT	p.C490C	ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.C529C|ZFX_uc010nfz.2_Silent_p.C146C	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	490	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						CCATTGAATGCGATGAGTGTG	0.443												
PDK3	5165	broad.mit.edu	37	X	24523371	24523371	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:24523371T>C	uc004dbg.2	+	5	780	c.551T>C	c.(550-552)ATA>ACA	p.I184T	PDK3_uc004dbh.2_Missense_Mutation_p.I184T	NM_005391	NP_005382	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase 3 isoform 2	184	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						CCTAAACACATAGGAAGTATC	0.453												
IL1RAPL1	11141	broad.mit.edu	37	X	29959766	29959766	+	Splice_Site	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:29959766A>C	uc004dby.2	+	9	1566	c.1058_splice	c.e9-2	p.E353_splice		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1						innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TTTTCTTTCTAGAGCTAATGT	0.363												
MAGEB3	4114	broad.mit.edu	37	X	30254059	30254059	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:30254059G>T	uc004dca.1	+	5	755	c.18G>T	c.(16-18)AAG>AAT	p.K6N		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	6											0						GGGGTCAGAAGAGTACGCTCC	0.547												
DMD	1756	broad.mit.edu	37	X	32717315	32717315	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:32717315G>T	uc004dda.1	-	8	989	c.745C>A	c.(745-747)CAG>AAG	p.Q249K	DMD_uc004dcz.2_Missense_Mutation_p.Q126K|DMD_uc004dcy.1_Missense_Mutation_p.Q245K|DMD_uc004ddb.1_Missense_Mutation_p.Q241K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.Q241K|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	249					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCACTTCCTGGATGGCTTCA	0.388												
TMEM47	83604	broad.mit.edu	37	X	34675058	34675058	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:34675058G>A	uc004ddh.2	-	1	348	c.89C>T	c.(88-90)GCG>GTG	p.A30V	TMEM47_uc010ngs.2_5'Flank	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	30	Helical; (Potential).					integral to membrane				lung(1)	1						CAGACACAGCGCCAGGAAGAT	0.682												
CXorf22	170063	broad.mit.edu	37	X	35969461	35969461	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:35969461C>T	uc004ddj.2	+	5	929	c.870C>T	c.(868-870)GCC>GCT	p.A290A	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	290										large_intestine(1)|lung(1)|ovary(1)	3						AAGATGATGCCGTGGGAGAAG	0.368												
SYTL5	94122	broad.mit.edu	37	X	37955458	37955458	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:37955458A>G	uc004ddu.2	+	10	1567	c.1033A>G	c.(1033-1035)AGC>GGC	p.S345G	SYTL5_uc004ddv.2_Missense_Mutation_p.S345G|SYTL5_uc004ddx.2_Missense_Mutation_p.S345G	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	345					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						AAGCATAAGAAGCAAGTCTGT	0.413												
USP9X	8239	broad.mit.edu	37	X	41069787	41069787	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:41069787C>T	uc004dfb.2	+	33	5674	c.5041C>T	c.(5041-5043)CGT>TGT	p.R1681C	USP9X_uc004dfc.2_Missense_Mutation_p.R1681C	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1681					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TGTTAATCTGCGTGAACAACA	0.338												
CXorf36	79742	broad.mit.edu	37	X	45013320	45013320	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:45013320C>T	uc004dgg.2	-	4	871	c.796G>A	c.(796-798)GAC>AAC	p.D266N		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	266						extracellular region				lung(1)	1						TAGGCAAGGTCGGCTGCCTGA	0.562												
ZNF157	7712	broad.mit.edu	37	X	47272096	47272096	+	Silent	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:47272096T>C	uc004dhr.1	+	4	693	c.624T>C	c.(622-624)CAT>CAC	p.H208H		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	208	C2H2-type 2.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCATTGCTCATCAGAAAACTC	0.433												
UXT	8409	broad.mit.edu	37	X	47516675	47516675	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:47516675C>T	uc004din.2	-	5	319	c.263G>A	c.(262-264)CGC>CAC	p.R88H	UXT_uc004dim.2_Missense_Mutation_p.R100H|LOC100133957_uc011mls.1_5'Flank|LOC100133957_uc011mlt.1_5'Flank	NM_004182	NP_004173	Q9UBK9	UXT_HUMAN	ubiquitously-expressed transcript isoform 2	88					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding				0						CACATAGATGCGTGAAGTATC	0.358												
ZNF630	57232	broad.mit.edu	37	X	47919007	47919007	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:47919007T>G	uc004div.3	-	5	1076	c.824A>C	c.(823-825)AAG>ACG	p.K275T	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.K151T	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	275	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						GAGCTGTGACTTCTTGATAAA	0.383												
MAGED1	9500	broad.mit.edu	37	X	51638746	51638746	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:51638746G>A	uc004dpm.2	+	3	738	c.643G>A	c.(643-645)GAC>AAC	p.D215N	MAGED1_uc004dpn.2_Missense_Mutation_p.D271N|MAGED1_uc004dpo.2_Missense_Mutation_p.D215N	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	215					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					CATAGAGACCGACCCAGGTAT	0.527										Multiple Myeloma(10;0.10)		
RIBC1	158787	broad.mit.edu	37	X	53453324	53453324	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:53453324C>T	uc004dsk.2	+	3	253	c.100C>T	c.(100-102)CGG>TGG	p.R34W	RIBC1_uc004dsj.1_Missense_Mutation_p.R34W|RIBC1_uc011mog.1_Missense_Mutation_p.R34W	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	34											0						CTTCAATGTGCGGAACCGAGT	0.488												
RRAGB	10325	broad.mit.edu	37	X	55748700	55748700	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:55748700C>T	uc004dup.2	+	3	859	c.208C>T	c.(208-210)CGT>TGT	p.R70C	RRAGB_uc004duq.2_Missense_Mutation_p.R70C	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	70					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						CAGAGACACACGTCGCCTTGG	0.398												
EDA2R	60401	broad.mit.edu	37	X	65824948	65824948	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:65824948C>A	uc004dwq.2	-	2	219	c.208G>T	c.(208-210)GTT>TTT	p.V70F	EDA2R_uc004dwr.2_Missense_Mutation_p.V70F|EDA2R_uc004dws.2_Missense_Mutation_p.V70F|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Missense_Mutation_p.V70F|EDA2R_uc004dwt.1_Missense_Mutation_p.V70F	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	70	Extracellular (Potential).|TNFR-Cys 2.				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1						ACCTTCTGAACACGATTGATG	0.527												
TAF9B	51616	broad.mit.edu	37	X	77387182	77387182	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:77387182C>T	uc004eda.2	-	7	752	c.681G>A	c.(679-681)TCG>TCA	p.S227S		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	227					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						TGTTCTGTGACGAAACCATGT	0.368												
TAF9B	51616	broad.mit.edu	37	X	77393320	77393320	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:77393320C>T	uc004eda.2	-	4	402	c.331G>A	c.(331-333)GCA>ACA	p.A111T		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	111					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						CTAGGTCCTGCATATGGCTTA	0.338												
FAM133A	286499	broad.mit.edu	37	X	92965080	92965080	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:92965080A>T	uc004efr.1	+	4	975	c.662A>T	c.(661-663)AAA>ATA	p.K221I		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	221	Lys-rich.										0						GCAAAGGAAAAAGTAaagaag	0.274												
RPA4	29935	broad.mit.edu	37	X	96139979	96139979	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:96139979C>T	uc004efv.3	+	1	968	c.670C>T	c.(670-672)CGG>TGG	p.R224W	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	224					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						CCATGAGCTCCGGGCTCAGCT	0.522								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ZMAT1	84460	broad.mit.edu	37	X	101138490	101138490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:101138490C>A	uc004eim.2	-	2	4894	c.1396G>T	c.(1396-1398)GGA>TGA	p.G466*	ZMAT1_uc011mrl.1_Nonsense_Mutation_p.G637*|ZMAT1_uc004ein.2_Nonsense_Mutation_p.G466*|ZMAT1_uc011mrm.1_Nonsense_Mutation_p.G466*	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	466						nucleus	zinc ion binding			ovary(1)	1						ATTCAAAATCCAAGAATAGAC	0.353												
CXorf41	139212	broad.mit.edu	37	X	106482225	106482225	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:106482225G>A	uc004enc.2	+	6	565	c.503G>A	c.(502-504)CGT>CAT	p.R168H	CXorf41_uc004end.2_Missense_Mutation_p.R168H	NM_173494	NP_775765	Q9NQM4	CX041_HUMAN	hypothetical protein LOC139212	168											0						CTTGACCTTCGTACTCCTCAG	0.284												
KIAA1210	57481	broad.mit.edu	37	X	118222649	118222649	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:118222649T>G	uc004era.3	-	11	2544	c.2544A>C	c.(2542-2544)GAA>GAC	p.E848D		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	848										ovary(4)|skin(1)	5						CTGTGAAGACTTCTGCATCTT	0.488												
GLUD2	2747	broad.mit.edu	37	X	120183165	120183165	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:120183165A>G	uc004eto.2	+	1	1704	c.1627A>G	c.(1627-1629)ATT>GTT	p.I543V		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	543					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGTCAATGCCATTGAAAAAGT	0.458												
IGSF1	3547	broad.mit.edu	37	X	130419306	130419306	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:130419306C>T	uc004ewd.2	-	5	752	c.514G>A	c.(514-516)GTG>ATG	p.V172M	IGSF1_uc004ewe.3_Missense_Mutation_p.V161M|IGSF1_uc004ewf.2_Missense_Mutation_p.V152M|IGSF1_uc004ewg.2_Missense_Mutation_p.V172M	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	172	Ig-like C2-type 2.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGGTAATCCACAGGCTCTGCA	0.493												
SLC9A6	10479	broad.mit.edu	37	X	135067850	135067850	+	Silent	SNP	C	C	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:135067850C>T	uc004ezj.2	+	1	265	c.189C>T	c.(187-189)GCC>GCT	p.A63A	SLC9A6_uc004ezk.2_Silent_p.A63A|SLC9A6_uc011mvx.1_Silent_p.A11A	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	63					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AGAAGCAAGCCGAGGAGAGCC	0.642												
MCF2	4168	broad.mit.edu	37	X	138667228	138667228	+	Silent	SNP	G	G	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:138667228G>A	uc004fau.2	-	24	3036	c.2742C>T	c.(2740-2742)CTC>CTT	p.L914L	MCF2_uc004fav.2_Silent_p.L930L|MCF2_uc011mwl.1_Silent_p.L891L|MCF2_uc010nsh.1_Intron|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Silent_p.L974L|MCF2_uc011mwo.1_Silent_p.L990L	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	914					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					TACTAACCATGAGGGGCCTAT	0.373												
MAGEC1	9947	broad.mit.edu	37	X	140996328	140996328	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:140996328A>C	uc004fbt.2	+	4	3424	c.3138A>C	c.(3136-3138)AAA>AAC	p.K1046N	MAGEC1_uc010nsl.1_Missense_Mutation_p.K113N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1046	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCACTAAAGTTTGGGTGC	0.552										HNSCC(15;0.026)		
MAGEC1	9947	broad.mit.edu	37	X	140996374	140996374	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:140996374T>C	uc004fbt.2	+	4	3470	c.3184T>C	c.(3184-3186)TCT>CCT	p.S1062P	MAGEC1_uc010nsl.1_Missense_Mutation_p.S129P	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1062	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCCCAACTCTTCTCCTCC	0.512										HNSCC(15;0.026)		
SPANXN1	494118	broad.mit.edu	37	X	144329135	144329135	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:144329135G>T	uc004fcb.2	+	1	29	c.29G>T	c.(28-30)GGG>GTG	p.G10V		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	SPANX-N1 protein	10											0	Acute lymphoblastic leukemia(192;6.56e-05)					AGCATCAATGGGGAGAAGAGG	0.338												
MAGEA1	4100	broad.mit.edu	37	X	152482876	152482876	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:152482876C>A	uc004fhf.2	-	3	355	c.135G>T	c.(133-135)GAG>GAT	p.E45D		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	45						cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGGGCACCTCCTCCAGGG	0.632												
TREX2	11219	broad.mit.edu	37	X	152710795	152710795	+	Missense_Mutation	SNP	G	G	T	rs151053685		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:152710795G>T	uc010nue.1	-	3	336	c.220C>A	c.(220-222)CTC>ATC	p.L74I	TREX2_uc010nud.1_Missense_Mutation_p.L32I|TREX2_uc011myp.1_Missense_Mutation_p.L32I|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	75					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			large_intestine(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCAAAGAGGGACAGCTCG	0.637								Editing_and_processing_nucleases				
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	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)		GCAAACGTACCTTTTTTTGTC	0.408												
PARK7	11315	broad.mit.edu	37	1	8029467	8029468	+	Splice_Site	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:8029466_8029467T>TA	uc001aou.4	+	4	357	c.252_splice	c.e4+2	p.E84_splice	PARK7_uc001aox.4_Splice_Site_p.E84_splice|PARK7_uc001aov.4_Intron	NM_001123377	NP_009193	Q99497	PARK7_HUMAN	Homo sapiens parkinson protein 7 (PARK7), transcript variant 2, mRNA.	84					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TTATCTGAGGTAAAAAATTCTA	0.347												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
TAGLN3	29114	broad.mit.edu	37	3	111730715	111730715	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:111730714_111730714TA>T	uc003dym.3	+	4	836	c.458_splice	c.e4+2	p.R153_splice	TAGLN3_uc003dyl.3_Splice_Site_p.R153_splice|TAGLN3_uc003dyn.3_Splice_Site_p.R153_splice|TAGLN3_uc003dyo.3_Splice_Site_p.R153_splice	NM_001008272	NP_037391	Q9UI15	TAGL3_HUMAN	Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.	153					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						GTTTCACAGGTAAAAGCCTCT	0.552												
SLC39A8	64116	broad.mit.edu	37	4	103188834	103188836	+	Splice_Site	DEL	AGA	AGA	-	rs144310869	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:103188833_103188835TAGA>T	uc003hwb.1	-	7	1578	c.1049_splice	c.e7-1	p.G350_splice	SLC39A8_uc011ceo.1_Splice_Site_p.G350_splice|SLC39A8_uc003hwa.1_Splice_Site_p.G283_splice|SLC39A8_uc003hwc.2_Splice_Site_p.G350_splice	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	350						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CAAAGTCTCCTAGAAGAAGAAGA	0.369												
PLRG1	5356	broad.mit.edu	37	4	155468219	155468219	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:155468218_155468218TA>T	uc003iny.3	-	4	385	c.260_splice	c.e4-1	p.G87_splice	PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	87						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTTCTTGTCCTAAAAAAACAC	0.308												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
ATP6V0A1	535	broad.mit.edu	37	17	40642658	40642658	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:40642657_40642657TA>T	uc002hzs.3	+	11	1362	c.1195_splice	c.e11+2	p.A399_splice	ATP6V0A1_uc002hzr.3_Splice_Site_p.A392_splice|ATP6V0A1_uc002hzq.3_Splice_Site_p.A392_splice|ATP6V0A1_uc010wgj.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010wgk.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010cyg.3_Splice_Site_p.A38_splice|ATP6V0A1_uc010wgl.2_Splice_Site_p.A251_splice	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	392					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TAAATCCAGGTAAAAAAAAGC	0.388												
LMAN1	3998	broad.mit.edu	37	18	57021815	57021816	+	Splice_Site	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:57021814_57021815T>TA	uc002lhz.3	-	4	510	c.478_splice	c.e4-1	p.K160_splice	LMAN1_uc010xek.1_Splice_Site_p.K160_splice	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	160	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATTATTTTTCTAAAAAAAAGGA	0.292												
CPAMD8	27151	broad.mit.edu	37	19	17081703	17081703	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:17081702_17081702TG>T	uc002nfb.3	-	18	2386	c.2354_splice	c.e18+1	p.R785_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	738						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCGTTACCTGGGGGGGTGC	0.572												
ERRFI1	54206	broad.mit.edu	37	1	8074255	8074255	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:8074255delT	uc001aoz.2	-	4	653	c.404delA	c.(403-405)AACfs	p.N135fs	ERRFI1_uc001apa.1_Frame_Shift_Del_p.N60fs	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	135					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GGAAGGGGAGTTTTTTATGGG	0.502												
CLSPN	63967	broad.mit.edu	37	1	36215282	36215283	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:36215282_36215283delGA	uc001bzi.2	-	11	2238_2239	c.2158_2159delTC	c.(2158-2160)TCAfs	p.S720fs	CLSPN_uc009vux.2_Frame_Shift_Del_p.S656fs	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	720					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAATCTGATGAGAGAGACTTG	0.381												
FCRL5	83416	broad.mit.edu	37	1	157490981	157490981	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:157490981delG	uc001fqu.2	-	11	2499	c.2341delC	c.(2341-2343)CTGfs	p.L781fs	FCRL5_uc009wsm.2_Frame_Shift_Del_p.L781fs	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	781	Extracellular (Potential).|Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TACAGGATCAGGGGAGAGCCT	0.612												
NIT1	4817	broad.mit.edu	37	1	161090341	161090342	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:161090341_161090342delCA	uc001fxv.1	+	7	846_847	c.770_771delCA	c.(769-771)GCAfs	p.A257fs	PFDN2_uc001fxu.2_5'Flank|NIT1_uc001fxw.2_Intron|NIT1_uc001fxx.1_Frame_Shift_Del_p.A221fs|NIT1_uc001fxy.1_Frame_Shift_Del_p.A221fs|NIT1_uc010pka.1_Frame_Shift_Del_p.A242fs	NM_005600	NP_005591	Q86X76	NIT1_HUMAN	nitrilase 1	257	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTGGCAGCAGCACAGTGTGGAC	0.574												
B3GALNT2	148789	broad.mit.edu	37	1	235613601	235613603	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:235613601_235613603delGAG	uc001hxc.2	-	12	1650_1652	c.1421_1423delCTC	c.(1420-1425)CCTCAG>CAG	p.P474del		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	474	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GGAGAATACTGAGGAGAAGACAG	0.478												
OPN3	23596	broad.mit.edu	37	1	241767800	241767801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:241767800_241767801insA	uc001hza.2	-	2	599_600	c.454_455insT	c.(454-456)TCCfs	p.S152fs	OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_Intron	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	152	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCAGGCCCAGGAAAAATTGATC	0.540												
ZNF438	220929	broad.mit.edu	37	10	31133959	31133959	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:31133959delT	uc010qdz.1	-	8	2853	c.2418delA	c.(2416-2418)AAAfs	p.K806fs	ZNF438_uc001ivn.2_Frame_Shift_Del_p.K757fs|ZNF438_uc010qdy.1_Frame_Shift_Del_p.K796fs|ZNF438_uc001ivo.3_Frame_Shift_Del_p.K370fs|ZNF438_uc009xlg.2_Frame_Shift_Del_p.K806fs|ZNF438_uc001ivp.3_Frame_Shift_Del_p.K796fs|ZNF438_uc010qea.1_Frame_Shift_Del_p.K806fs|ZNF438_uc010qeb.1_Frame_Shift_Del_p.K806fs	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TAGCCCACAGTTTGGAAGGGT	0.512												
JMJD1C	221037	broad.mit.edu	37	10	64974641	64974641	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:64974641delT	uc001jmn.2	-	8	1586	c.1286delA	c.(1285-1287)AATfs	p.N429fs	JMJD1C_uc001jml.2_Frame_Shift_Del_p.N210fs|JMJD1C_uc001jmm.2_Frame_Shift_Del_p.N141fs|JMJD1C_uc010qiq.1_Frame_Shift_Del_p.N247fs|JMJD1C_uc009xpi.2_Frame_Shift_Del_p.N247fs|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Frame_Shift_Del_p.N141fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	429					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGGCTGGCTATTTTTTAGGGT	0.363												
C10orf54	64115	broad.mit.edu	37	10	73511467	73511467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:73511467delG	uc001jsd.2	-	6	997	c.856delC	c.(856-858)CTGfs	p.L286fs	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Frame_Shift_Del_p.L154fs|C10orf54_uc009xqm.2_Frame_Shift_Del_p.L124fs	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	286	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GGAGGAGACAGGGGGGTGCTG	0.617												
MUC6	4588	broad.mit.edu	37	11	1026400	1026401	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1026400_1026401insG	uc001lsw.2	-	20	2523_2524	c.2472_2473insC	c.(2470-2475)CCCGAGfs	p.P824fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	824_825					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCACTCCTCGGGGGGCACAC	0.649												
KCNA4	3739	broad.mit.edu	37	11	30034059	30034059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:30034059delC	uc001msk.2	-	2	1319	c.167delG	c.(166-168)GGTfs	p.G56fs		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	56						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCACCAGAACCCCCGCTACC	0.706												
EXT2	2132	broad.mit.edu	37	11	44097139	44097139	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:44097139delG	uc010rfo.1	+	1	64	c.51delG	c.(49-51)CCGfs	p.P17fs	ACCS_uc010rfm.1_Frame_Shift_Del_p.G112fs|ACCS_uc009yks.1_Frame_Shift_Del_p.G185fs|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Frame_Shift_Del_p.G185fs	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						GTGTGAGGCCGGGGGTAAGTG	0.582			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses			
RTN3	10313	broad.mit.edu	37	11	63486964	63486967	+	Frame_Shift_Del	DEL	TGAT	TGAT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:63486964_63486967delTGAT	uc001nxq.2	+	3	1177_1180	c.990_993delTGAT	c.(988-993)AATGATfs	p.N330fs	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Frame_Shift_Del_p.N311fs|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Frame_Shift_Del_p.N218fs|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	330_331					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						GATGCGTGAATGATATGCATAACT	0.431												
PPP1R14B	26472	broad.mit.edu	37	11	64014044	64014044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64014044delG	uc001nza.2	-	1	370	c.102delC	c.(100-102)CCCfs	p.P34fs		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	protein phosphatase 1 regulatory subunit 14B	34					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0						CTGCGGCCCCGGGGGGGCTCT	0.547												
PPP2R5B	5526	broad.mit.edu	37	11	64693273	64693273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64693273delC	uc001oby.2	+	2	652	c.67delC	c.(67-69)CCCfs	p.P23fs	PPP2R5B_uc001obz.2_Frame_Shift_Del_p.P23fs	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	23					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GTCGCCTGTGCCCCCACCCGA	0.697												
SSH3	54961	broad.mit.edu	37	11	67079247	67079252	+	In_Frame_Del	DEL	GCAGGG	GCAGGG	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:67079247_67079252delGCAGGG	uc001okj.2	+	14	2047_2052	c.1869_1874delGCAGGG	c.(1867-1875)GAGCAGGGG>GAG	p.QG630del	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_In_Frame_Del_p.QG484del	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	630_631					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			aggagcaggagcaggggcaggggcag	0.544												
SHANK2	22941	broad.mit.edu	37	11	70333007	70333007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:70333007delC	uc001oqc.2	-	21	3469	c.3391delG	c.(3391-3393)GATfs	p.D1131fs	SHANK2_uc010rqn.1_Frame_Shift_Del_p.D543fs|SHANK2_uc001opz.2_Frame_Shift_Del_p.D536fs|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	752					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCAGCAAAATCCCCCTCCTCG	0.682												
CEP57	9702	broad.mit.edu	37	11	95564332	95564332	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:95564332delA	uc001pfp.1	+	11	1636	c.1415delA	c.(1414-1416)GAAfs	p.E472fs	CEP57_uc010ruh.1_Frame_Shift_Del_p.E463fs|CEP57_uc010rui.1_Frame_Shift_Del_p.E446fs|CEP57_uc009ywn.1_Frame_Shift_Del_p.E320fs|CEP57_uc001pfq.1_Frame_Shift_Del_p.E446fs|CEP57_uc001pfr.1_Frame_Shift_Del_p.E320fs	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	472	Mediates interaction with microtubules (By similarity).|Potential.				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGACCTGGAGAAAAAAGGAGA	0.383									Mosaic_Variegated_Aneuploidy_Syndrome			
MAP3K12	7786	broad.mit.edu	37	12	53877706	53877708	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:53877706_53877708delCCT	uc001sdm.1	-	9	1344_1346	c.1246_1248delAGG	c.(1246-1248)AGGdel	p.R416del	MAP3K12_uc001sdn.1_In_Frame_Del_p.R449del	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	416					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						TGAGCTCCTCCCTCCTCCTCATC	0.542												
NAA25	80018	broad.mit.edu	37	12	112492200	112492202	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:112492200_112492202delATC	uc001ttm.2	-	14	1638_1640	c.1618_1620delGAT	c.(1618-1620)GATdel	p.D540del	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_In_Frame_Del_p.D512del|NAA25_uc009zwa.1_In_Frame_Del_p.D540del	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	540						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						ACCCAATGGTATCATGCTGGATA	0.424												
SACS	26278	broad.mit.edu	37	13	23908934	23908934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:23908934delA	uc001uon.2	-	10	9670	c.9081delT	c.(9079-9081)TTTfs	p.F3027fs	SACS_uc001uoo.2_Frame_Shift_Del_p.F2880fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3027					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTAAATTGTCAAAAAATGGTC	0.358												
C13orf33	84935	broad.mit.edu	37	13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582												
AKAP11	11215	broad.mit.edu	37	13	42874500	42874500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:42874500delA	uc001uys.1	+	8	1793	c.1618delA	c.(1618-1620)AAAfs	p.K540fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	540					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAATAAATCTAAAAATAAATC	0.284												
DIS3	22894	broad.mit.edu	37	13	73352362	73352363	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:73352362_73352363delTT	uc001vix.3	-	3	916_917	c.542_543delAA	c.(541-543)AAAfs	p.K181fs	DIS3_uc001viy.3_Frame_Shift_Del_p.K151fs|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	181	PINc.				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TGGCTTTCTCTTTGTTTCTCCT	0.361										Multiple Myeloma(4;0.011)		
SLC15A1	6564	broad.mit.edu	37	13	99354751	99354751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:99354751delT	uc001vno.2	-	18	1526	c.1449delA	c.(1447-1449)AAAfs	p.K483fs		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	483	Extracellular (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATTTTCCCCTTTTTCTGGCT	0.254												
UPF3A	65110	broad.mit.edu	37	13	115051799	115051800	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:115051799_115051800delAG	uc001vup.2	+	4	481_482	c.444_445delAG	c.(442-447)GTAGAGfs	p.V148fs	UPF3A_uc001vuq.2_Intron|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_RNA|UPF3A_uc001vut.2_5'UTR|UPF3A_uc001vuu.2_5'UTR	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	148_149					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CTGCAGTGGTAGAGTTTGCTCC	0.406												
C14orf37	145407	broad.mit.edu	37	14	58598353	58598353	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:58598353delC	uc001xdc.2	-	4	1819	c.1708delG	c.(1708-1710)GAAfs	p.E570fs	C14orf37_uc010tro.1_Frame_Shift_Del_p.E608fs|C14orf37_uc001xdd.2_Frame_Shift_Del_p.E570fs|C14orf37_uc001xde.2_Frame_Shift_Del_p.E570fs	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	570	Extracellular (Potential).					integral to membrane	binding				0						ATGCTGGGTTCCCCCACCATT	0.493												
DLST	1743	broad.mit.edu	37	14	75359617	75359617	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:75359617delC	uc001xqv.2	+	8	586	c.523delC	c.(523-525)CCCfs	p.P175fs	DLST_uc001xqu.2_Frame_Shift_Del_p.P87fs|DLST_uc001xqt.2_Frame_Shift_Del_p.P91fs|DLST_uc010tuw.1_Frame_Shift_Del_p.P89fs|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Frame_Shift_Del_p.P175fs	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	175					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GGCAGTTCCTCCCCCTGCAGC	0.577												
EML1	2009	broad.mit.edu	37	14	100402660	100402660	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:100402660delA	uc001ygs.2	+	19	2153	c.2084delA	c.(2083-2085)GAAfs	p.E695fs	EML1_uc010tww.1_Frame_Shift_Del_p.E683fs|EML1_uc001ygr.2_Frame_Shift_Del_p.E714fs	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	695	WD 9.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGAGACTACGAAATCCTCTAC	0.507												
MTMR10	54893	broad.mit.edu	37	15	31234037	31234038	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:31234037_31234038delCA	uc001zfh.1	-	16	2067_2068	c.1969_1970delTG	c.(1969-1971)TGGfs	p.W657fs	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Frame_Shift_Del_p.W71fs|MTMR10_uc001zfg.1_Frame_Shift_Del_p.W238fs|MTMR10_uc010azx.1_Frame_Shift_Del_p.W409fs|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	657	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GCACAGTTTCCACAGTTTTATG	0.525												
MGA	23269	broad.mit.edu	37	15	42042041	42042041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:42042041delA	uc010ucy.1	+	17	6417	c.6236delA	c.(6235-6237)GAAfs	p.E2079fs	MGA_uc010ucz.1_Frame_Shift_Del_p.E1870fs|MGA_uc010uda.1_Frame_Shift_Del_p.E695fs|MGA_uc001zoi.2_Frame_Shift_Del_p.E293fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2040	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGTTCCAAAGAAAAAGTGGCT	0.368												
ATP8B4	79895	broad.mit.edu	37	15	50264853	50264853	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:50264853delA	uc001zxu.2	-	13	1311	c.1169delT	c.(1168-1170)TTCfs	p.F390fs	ATP8B4_uc010ber.2_Frame_Shift_Del_p.F263fs|ATP8B4_uc010ufd.1_Frame_Shift_Del_p.F263fs|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	390	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTGTCGGAGAAAATGTACTC	0.423												
TMC5	79838	broad.mit.edu	37	16	19498596	19498596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:19498596delT	uc002dgc.3	+	17	3270	c.2521delT	c.(2521-2523)TTTfs	p.F841fs	TMC5_uc010vaq.1_Frame_Shift_Del_p.F789fs|TMC5_uc002dgb.3_Frame_Shift_Del_p.F841fs|TMC5_uc010var.1_Frame_Shift_Del_p.F841fs|TMC5_uc002dgd.1_Frame_Shift_Del_p.F595fs|TMC5_uc002dge.3_Frame_Shift_Del_p.F595fs|TMC5_uc002dgf.3_Frame_Shift_Del_p.F524fs|TMC5_uc002dgg.3_Frame_Shift_Del_p.F482fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	841	Helical; (Potential).					integral to membrane				skin(1)	1						CTTCTTGCTCTTTTTCCCATC	0.547												
MTSS1L	92154	broad.mit.edu	37	16	70698147	70698147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:70698147delG	uc002ezj.2	-	15	1937	c.1677delC	c.(1675-1677)CCCfs	p.P559fs		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	559					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						TGGCCACGCCGGGGGGTGCGC	0.761												
ZCCHC14	23174	broad.mit.edu	37	16	87445211	87445211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:87445211delT	uc002fjz.1	-	12	2732	c.2705delA	c.(2704-2706)AAGfs	p.K902fs	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Frame_Shift_Del_p.K678fs	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	902					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GTTCCCGCTCTTTTTGTGACT	0.592												
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:7578475delG	uc002gim.2	-	5	649	c.455delC	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; 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.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(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)		GGTGCCGGGCGGGGGTGTGGA	0.612		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)		
MYO18A	399687	broad.mit.edu	37	17	27493332	27493332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:27493332delG	uc002hdt.1	-	2	785	c.627delC	c.(625-627)CCCfs	p.P209fs	MYO18A_uc010csa.1_Frame_Shift_Del_p.P209fs|MYO18A_uc002hdu.1_Frame_Shift_Del_p.P209fs	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	209					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGGGCACCACGGGGGGCAGGC	0.662												
KRTAP9-8	83901	broad.mit.edu	37	17	39394461	39394461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:39394461delA	uc002hwh.3	+	1	192	c.158delA	c.(157-159)CAAfs	p.Q53fs	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	53	6.|15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACTTGCTGTCAAAACACCTGC	0.632												
TBCD	6904	broad.mit.edu	37	17	80721910	80721911	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80721910_80721911insT	uc002kfz.2	+	3	435_436	c.305_306insT	c.(304-306)GCTfs	p.A102fs	TBCD_uc002kfx.1_Frame_Shift_Ins_p.A85fs|TBCD_uc002kfy.1_Frame_Shift_Ins_p.A102fs	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	102					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTACATCTGGCTTTTAAATTTC	0.376												
ROCK1	6093	broad.mit.edu	37	18	18629104	18629105	+	Frame_Shift_Ins	INS	-	-	A	rs35810558		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:18629104_18629105insA	uc002kte.2	-	4	1303_1304	c.362_363insT	c.(361-363)TTCfs	p.F121fs		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	121	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTTCTTCCCAGAAAAAAGCAGA	0.361												
CBLN2	147381	broad.mit.edu	37	18	70209335	70209335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:70209335delC	uc002lku.2	-	2	296	c.61delG	c.(61-63)GCGfs	p.A21fs	CBLN2_uc002lkv.2_Frame_Shift_Del_p.A21fs	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	21						integral to membrane					0		Esophageal squamous(42;0.131)				tcgcgcagcgccccccggcgc	0.502												
UBXN6	80700	broad.mit.edu	37	19	4446878	4446879	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:4446878_4446879insA	uc002man.1	-	7	750_751	c.654_655insT	c.(652-657)TTTGAGfs	p.F218fs	UBXN6_uc010dty.1_Frame_Shift_Ins_p.F122fs|UBXN6_uc002mam.1_Frame_Shift_Ins_p.F165fs	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	218_219	PUB.					microtubule organizing center|nucleus	protein binding				0						CCAATGGCCTCAAAAAACTCGT	0.644												
SAFB2	9667	broad.mit.edu	37	19	5590298	5590298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:5590298delG	uc002mcd.2	-	18	2728	c.2516delC	c.(2515-2517)CCTfs	p.P839fs		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	839	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CCTGGGGGGAGGGGGCAGCCC	0.687												
TRIP10	9322	broad.mit.edu	37	19	6750379	6750380	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:6750379_6750380insC	uc002mfs.2	+	13	1538_1539	c.1472_1473insC	c.(1471-1473)GACfs	p.D491fs	TRIP10_uc010dux.1_Frame_Shift_Ins_p.D435fs|TRIP10_uc002mfr.2_Frame_Shift_Ins_p.D435fs|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Frame_Shift_Ins_p.D254fs	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	491	Interaction with CDC42.|Interaction with PDE6G (By similarity).|Interaction with DNM2 and WASL (By similarity).|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729).	actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						CGGCCTCCCGACCCCCCCGCTA	0.658												
ZNF681	148213	broad.mit.edu	37	19	23927980	23927980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:23927980delT	uc002nrk.3	-	4	514	c.372delA	c.(370-372)AAAfs	p.K124fs	ZNF681_uc002nrl.3_Frame_Shift_Del_p.K55fs|ZNF681_uc002nrj.3_Frame_Shift_Del_p.K55fs	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATAACCTCCTTTTTGCACTT	0.294												
KCTD15	79047	broad.mit.edu	37	19	34292140	34292140	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:34292140delC	uc002nuy.3	+	4	403	c.135delC	c.(133-135)ATCfs	p.I45fs	KCTD15_uc002nuv.2_Frame_Shift_Del_p.I45fs|KCTD15_uc002nuw.3_Frame_Shift_Del_p.I45fs|KCTD15_uc010xrt.1_Frame_Shift_Del_p.I45fs|KCTD15_uc002nux.3_Frame_Shift_Del_p.I45fs	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					CCCAGGGCATCCCCCTGCCAG	0.612												
MLL4	9757	broad.mit.edu	37	19	36214714	36214714	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36214714delG	uc010eei.2	+	9	3140	c.3140delG	c.(3139-3141)CGGfs	p.R1047fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1047					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCCACGCCGGGGGGCGGGA	0.701												
NCCRP1	342897	broad.mit.edu	37	19	39691081	39691081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:39691081delC	uc002okq.1	+	5	663	c.644delC	c.(643-645)GCCfs	p.A215fs		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	215	FBA.				protein catabolic process					ovary(1)	1						CACCACGTGGCCCCCCGAACT	0.672												
FBL	2091	broad.mit.edu	37	19	40325193	40325193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:40325193delG	uc002omn.2	-	9	1065	c.951delC	c.(949-951)CCCfs	p.P317fs	DYRK1B_uc002omi.2_5'Flank|DYRK1B_uc002omj.2_5'Flank|DYRK1B_uc002omk.2_5'Flank|DYRK1B_uc002oml.2_5'Flank|FBL_uc002omm.1_3'UTR	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	317					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCTTCACCTTGGGGGGTGGCC	0.507												
HNRNPUL1	11100	broad.mit.edu	37	19	41808818	41808818	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:41808818delG	uc002oqb.3	+	12	2225	c.1936delG	c.(1936-1938)GGGfs	p.G646fs	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc002oqa.3_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010ehm.2_Frame_Shift_Del_p.G646fs|HNRNPUL1_uc002oqc.3_Frame_Shift_Del_p.G532fs|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010ehn.2_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010eho.2_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010xvy.1_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010ehp.2_Frame_Shift_Del_p.G502fs|HNRNPUL1_uc002oqf.3_Frame_Shift_Del_p.G170fs	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	646	Necessary for transcription repression.|Necessary for interaction with TP53.|Gly-rich.|1-4.|5 X 3 AA repeats of R-G-G.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						CCAGAACCGAGGGGGAGGCAG	0.642												
CIC	23152	broad.mit.edu	37	19	42797376	42797376	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:42797376delC	uc002otf.1	+	15	3778	c.3738delC	c.(3736-3738)AGCfs	p.S1246fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1246	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCCGGAGCAGCCCCCCACTGC	0.706			T	DUX4	soft tissue sarcoma							
TRPM4	54795	broad.mit.edu	37	19	49671926	49671926	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49671926delG	uc002pmw.2	+	6	801	c.729delG	c.(727-729)CTGfs	p.L243fs	TRPM4_uc010emu.2_Frame_Shift_Del_p.L243fs|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Frame_Shift_Del_p.L69fs|TRPM4_uc010emv.2_Frame_Shift_Del_p.L128fs|TRPM4_uc010yal.1_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	243	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		ACGGCTGCCTGGGGGGCGAGA	0.652												
PIH1D1	55011	broad.mit.edu	37	19	49949891	49949891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49949891delG	uc002pns.2	-	8	1032	c.748delC	c.(748-750)CAGfs	p.Q250fs	uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	250					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TACAGCTGCTGGGGGCCCCCC	0.622												
TUBA3E	112714	broad.mit.edu	37	2	130949500	130949501	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:130949500_130949501delAG	uc002tqv.2	-	5	1357_1358	c.1256_1257delCT	c.(1255-1257)TCTfs	p.S419fs		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	419					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					CGCGGGCCTCAGAGAACTCTCC	0.589												
RIF1	55183	broad.mit.edu	37	2	152318968	152318970	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:152318968_152318970delGAT	uc002txm.2	+	29	3481_3483	c.3351_3353delGAT	c.(3349-3354)AAGATG>AAG	p.M1119del	RIF1_uc002txl.2_In_Frame_Del_p.M1119del|RIF1_uc002txn.2_In_Frame_Del_p.M1119del|RIF1_uc002txo.2_In_Frame_Del_p.M1119del|RIF1_uc002txp.2_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1119					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGGATTCTAAGATGATGATTACG	0.286												
TANK	10010	broad.mit.edu	37	2	162091980	162091980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:162091980delG	uc002ubr.1	+	8	1387	c.1229delG	c.(1228-1230)AGGfs	p.R410fs	TANK_uc002ubs.2_Frame_Shift_Del_p.R410fs	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	410	C2H2-type.					cytosol	metal ion binding|protein binding			ovary(1)	1						ATTACATCCAGGGGGGATTTC	0.418												
SCN9A	6335	broad.mit.edu	37	2	167141203	167141203	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:167141203delA	uc010fpl.2	-	12	2075	c.1734delT	c.(1732-1734)TTTfs	p.F578fs	uc002udp.2_Intron|SCN9A_uc002udr.1_Frame_Shift_Del_p.F449fs|SCN9A_uc002uds.1_Frame_Shift_Del_p.F449fs|SCN9A_uc002udt.1_Frame_Shift_Del_p.F449fs	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	578						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CATTGTCTCCAAAAATGCTGT	0.507												
DNAJC10	54431	broad.mit.edu	37	2	183606066	183606066	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:183606066delA	uc002uow.1	+	13	1589	c.1174delA	c.(1174-1176)AAAfs	p.K392fs	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Frame_Shift_Del_p.K346fs|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	392					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AACTCTACTTAAAAATGATCA	0.279												
SLC4A3	6508	broad.mit.edu	37	2	220492742	220492742	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:220492742delG	uc002vmp.3	+	2	297	c.28delG	c.(28-30)GGGfs	p.G10fs	SLC4A3_uc002vmn.2_Frame_Shift_Del_p.G10fs|SLC4A3_uc002vmo.3_Frame_Shift_Del_p.G10fs|SLC4A3_uc010fwm.2_5'UTR	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	10	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCGCCCGGGGGCGCCTC	0.622												
IRS1	3667	broad.mit.edu	37	2	227662352	227662352	+	Frame_Shift_Del	DEL	G	G	-	rs13306467		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:227662352delG	uc002voh.3	-	1	1155	c.1103delC	c.(1102-1104)CCGfs	p.P368fs		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	368	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGGTTGAGCGGGGGGTGCAG	0.706											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C20orf195	79025	broad.mit.edu	37	20	62187213	62187213	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:62187213delC	uc002yfj.2	+	2	289	c.197delC	c.(196-198)GCCfs	p.A66fs	C20orf195_uc002yfk.2_Frame_Shift_Del_p.A66fs	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	66											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCCACCACGCCCGCATGCAG	0.652												
CBS	875	broad.mit.edu	37	21	44492285	44492285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:44492285delG	uc002zcu.2	-	3	264	c.19delC	c.(19-21)CAGfs	p.Q7fs	CBS_uc002zct.2_Frame_Shift_Del_p.Q7fs|CBS_uc002zcw.3_Frame_Shift_Del_p.Q7fs|CBS_uc002zcv.2_Frame_Shift_Del_p.Q7fs	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	7					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTTCTGCCTGGGGGGTCTCA	0.662												
GNAZ	2781	broad.mit.edu	37	22	23438488	23438488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:23438488delG	uc002zwu.1	+	2	1143	c.606delG	c.(604-606)GTGfs	p.V202fs	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	202	GTP (By similarity).					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGGTGGACGTGGGGGGGCAGA	0.577												
LIF	3976	broad.mit.edu	37	22	30640813	30640815	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:30640813_30640815delGTT	uc003agz.2	-	2	239_241	c.127_129delAAC	c.(127-129)AACdel	p.N43del	LIF_uc011aks.1_Intron|uc003aha.2_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	leukemia inhibitory factor (cholinergic	43					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding				0			Epithelial(10;0.171)			GGTTCATGAGGTTGTTGTGACAT	0.562												
LRRC3B	116135	broad.mit.edu	37	3	26751452	26751452	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:26751452delA	uc003cdp.2	+	2	878	c.289delA	c.(289-291)AAAfs	p.K97fs	LRRC3B_uc003cdq.2_Frame_Shift_Del_p.K97fs	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	97	LRR 2.					integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						CAACCTGTCCAAAAATGGCAT	0.423												
CYP8B1	1582	broad.mit.edu	37	3	42916994	42916994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:42916994delT	uc003cmh.2	-	1	640	c.315delA	c.(313-315)AAAfs	p.K105fs	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Frame_Shift_Del_p.K105fs	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	105					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TCAGCACCAGTTTTTTTGCAT	0.507												
CACNA2D3	55799	broad.mit.edu	37	3	54596940	54596940	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:54596940delT	uc003dhf.2	+	6	706	c.658delT	c.(658-660)TTTfs	p.F220fs	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Frame_Shift_Del_p.F126fs|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	220	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGCAAAGGGCTTTTTTAGGCA	0.378												
PAQR9	344838	broad.mit.edu	37	3	142682066	142682066	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:142682066delG	uc003evg.2	-	1	113	c.113delC	c.(112-114)CCAfs	p.P38fs	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	38	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GGCAGACGCTGGGGGGTCCCG	0.751												
SR140	23350	broad.mit.edu	37	3	142773947	142773948	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:142773947_142773948insA	uc003evh.1	+	27	3036_3037	c.2937_2938insA	c.(2935-2940)AGCAAAfs	p.S979fs	SR140_uc003evi.1_Frame_Shift_Ins_p.S570fs|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Frame_Shift_Ins_p.S978fs	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	979_980	Arg/Ser-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						GAGATGTTAGCAAAAAAGCCAA	0.391												
CORIN	10699	broad.mit.edu	37	4	47647195	47647196	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:47647195_47647196insTC	uc003gxm.2	-	14	1952_1953	c.1859_1860insGA	c.(1858-1860)GATfs	p.D620fs	CORIN_uc011bzf.1_Frame_Shift_Ins_p.D481fs|CORIN_uc011bzg.1_Frame_Shift_Ins_p.D553fs|CORIN_uc011bzh.1_Frame_Shift_Ins_p.D583fs	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	620	Extracellular (Potential).|LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						ATTCCCAAAGATCTCTCTCTTT	0.371												
CFI	3426	broad.mit.edu	37	4	110687927	110687927	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:110687927delT	uc003hzr.3	-	2	319	c.111delA	c.(109-111)AAAfs	p.K37fs	CFI_uc011cft.1_Frame_Shift_Del_p.K37fs|CFI_uc003hzs.3_Frame_Shift_Del_p.K37fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	37					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GGTGAGTATATTTTTTTGCTA	0.398												
PRDM5	11107	broad.mit.edu	37	4	121738028	121738028	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:121738028delA	uc003idn.2	-	6	952	c.702delT	c.(700-702)TTTfs	p.F234fs	PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	234	C2H2-type 3; atypical.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CAGAGCACTGAAAACTTCGCG	0.383												
FAM151B	167555	broad.mit.edu	37	5	79815642	79815642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:79815642delT	uc003kgv.1	+	4	591	c.448delT	c.(448-450)TTTfs	p.F150fs	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	150											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TGCAAAACCATTTTTAGACAC	0.408												
LYSMD3	116068	broad.mit.edu	37	5	89814637	89814638	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:89814637_89814638delTA	uc003kjr.2	-	3	1067_1068	c.919_920delTA	c.(919-921)TAGfs	p.*307fs	LYSMD3_uc010jaz.1_Frame_Shift_Del_p.H148fs|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	307					cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AGCTAATTGCTATGTTTCCTGT	0.366												
RAPGEF6	51735	broad.mit.edu	37	5	130799880	130799880	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:130799880delA	uc003kvn.1	-	18	2540	c.2334delT	c.(2332-2334)TTTfs	p.F778fs	RAPGEF6_uc003kvp.1_Frame_Shift_Del_p.F828fs|RAPGEF6_uc003kvo.1_Frame_Shift_Del_p.F783fs|RAPGEF6_uc010jdi.1_Frame_Shift_Del_p.F778fs|RAPGEF6_uc010jdj.1_Frame_Shift_Del_p.F778fs|RAPGEF6_uc003kvq.2_Frame_Shift_Del_p.F495fs|RAPGEF6_uc003kvr.2_Frame_Shift_Del_p.F778fs|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Frame_Shift_Del_p.F778fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	778	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GAACAGCATGAAAAACTACTT	0.383												
SLC22A5	6584	broad.mit.edu	37	5	131722731	131722731	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:131722731delC	uc003kww.3	+	5	1103	c.839delC	c.(838-840)TCCfs	p.S280fs	SLC22A5_uc003kwx.3_Frame_Shift_Del_p.S304fs|SLC22A5_uc010jdr.1_5'UTR	NM_003060	NP_003051	O76082	S22A5_HUMAN	solute carrier family 22 member 5	280	Cytoplasmic (Potential).				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity				0		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCCTGAGTCCCCCCGATGG	0.547											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA1009	22832	broad.mit.edu	37	6	84925098	84925098	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:84925098delA	uc010kbp.2	-	5	502	c.405delT	c.(403-405)TTTfs	p.F135fs	KIAA1009_uc003pkj.3_Frame_Shift_Del_p.F59fs|KIAA1009_uc003pkk.2_Frame_Shift_Del_p.F135fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	135					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CAAGCCTGGCAAAAAATTGTT	0.368												
PERP	64065	broad.mit.edu	37	6	138417555	138417557	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:138417555_138417557delGAA	uc003qht.2	-	2	472_474	c.289_291delTTC	c.(289-291)TTCdel	p.F97del		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	97	Helical; (Potential).				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CACAGAGGGCGAAGAAGGAGAGG	0.498												
FKBP9	11328	broad.mit.edu	37	7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:33014804delC	uc003tdh.2	+	3	559	c.378delC	c.(376-378)ATCfs	p.I126fs	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Frame_Shift_Del_p.I179fs|FKBP9_uc003tdg.2_Frame_Shift_Del_p.I126fs|FKBP9_uc010kwm.2_Frame_Shift_Del_p.I33fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)			CTGGTGTGATCCCCCCCAATT	0.443												
NPC1L1	29881	broad.mit.edu	37	7	44576448	44576448	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:44576448delC	uc003tlb.2	-	3	1730	c.1674delG	c.(1672-1674)GGGfs	p.G558fs	NPC1L1_uc003tlc.2_Frame_Shift_Del_p.G558fs|NPC1L1_uc011kbw.1_Frame_Shift_Del_p.G558fs|NPC1L1_uc003tld.2_Frame_Shift_Del_p.G558fs	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	558	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	TACCTTTGTACCCCCCAATGG	0.602												
ABCA13	154664	broad.mit.edu	37	7	48654889	48654890	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:48654889_48654890insGT	uc003toq.2	+	59	14778_14779	c.14753_14754insGT	c.(14752-14754)GAGfs	p.E4918fs	ABCA13_uc010kys.1_Frame_Shift_Ins_p.E1993fs|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Frame_Shift_Ins_p.E648fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4918	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AGCATGGAGGAGTGTGAGGCTC	0.436												
DBF4	10926	broad.mit.edu	37	7	87507389	87507389	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:87507389delA	uc003ujf.1	+	2	572	c.68delA	c.(67-69)GAAfs	p.E23fs	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	23					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTCAAAAATGAAAAAAACAGA	0.299												
PHF20L1	51105	broad.mit.edu	37	8	133837586	133837586	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:133837586delA	uc003ytt.2	+	14	2039	c.1714delA	c.(1714-1716)AAAfs	p.K572fs	PHF20L1_uc011lja.1_Frame_Shift_Del_p.K546fs|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	572	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			gaagaagaagaaaaaaaagaa	0.194												
EPPK1	83481	broad.mit.edu	37	8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144941378delC	uc003zaa.1	-	1	6057	c.6044delG	c.(6043-6045)GGTfs	p.G2015fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2015	Plectin 34.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGATGACACCCCCCGTGGC	0.622												
DENND4C	55667	broad.mit.edu	37	9	19346885	19346887	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:19346885_19346887delCTT	uc003znq.2	+	18	3296_3298	c.3263_3265delCTT	c.(3262-3267)ACTTCT>ACT	p.S1089del	DENND4C_uc011lnc.1_In_Frame_Del_p.S419del|DENND4C_uc011lnd.1_In_Frame_Del_p.S377del|DENND4C_uc003znr.2_In_Frame_Del_p.S377del|DENND4C_uc003zns.2_In_Frame_Del_p.S271del|DENND4C_uc003znt.2_In_Frame_Del_p.S271del	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1089						integral to membrane				ovary(1)|skin(1)	2						GAACGTTCAACTTCTTTGTCAGC	0.468												
NOL8	55035	broad.mit.edu	37	9	95064081	95064082	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:95064081_95064082insT	uc004arv.2	-	13	3263_3264	c.2926_2927insA	c.(2926-2928)AGGfs	p.R976fs	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Frame_Shift_Ins_p.R208fs|NOL8_uc011ltw.1_Frame_Shift_Ins_p.R908fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	976					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						AGCTTCCTCCCTTTTCTTTTTT	0.312												
FANCC	2176	broad.mit.edu	37	9	98003011	98003011	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:98003011delT	uc004avh.2	-	4	527	c.265delA	c.(265-267)ATTfs	p.I89fs	FANCC_uc004avi.3_Frame_Shift_Del_p.I89fs|FANCC_uc010mrm.1_RNA|FANCC_uc011lul.1_RNA	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	89					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				CATATTAGAATTTTTTGGCTT	0.279			D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
INVS	27130	broad.mit.edu	37	9	103054983	103054983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:103054983delG	uc004bap.1	+	14	2656	c.2444delG	c.(2443-2445)CGGfs	p.R815fs	INVS_uc011lve.1_Frame_Shift_Del_p.R719fs|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Frame_Shift_Del_p.R719fs|INVS_uc010mtb.1_Frame_Shift_Del_p.R489fs	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	815					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				GGCAGTGCCCGGGGGGAGGCG	0.587												
BAT2L1	84726	broad.mit.edu	37	9	134330506	134330508	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134330506_134330508delTGA	uc004can.3	+	9	1219_1221	c.1164_1166delTGA	c.(1162-1167)AGTGAT>AGT	p.D390del	BAT2L1_uc010mzj.1_5'UTR	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	390							protein binding				0						TGAAGTTCAGTGATGATGAAGAG	0.478												
POMT1	10585	broad.mit.edu	37	9	134390826	134390827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134390826_134390827insC	uc004cav.2	+	13	1457_1458	c.1255_1256insC	c.(1255-1257)GCCfs	p.A419fs	POMT1_uc004cax.2_Frame_Shift_Ins_p.A397fs|POMT1_uc011mcj.1_Frame_Shift_Ins_p.A175fs|POMT1_uc004cau.2_Frame_Shift_Ins_p.A397fs|POMT1_uc004caw.2_Frame_Shift_Ins_p.A343fs|POMT1_uc011mck.1_Frame_Shift_Ins_p.A280fs|POMT1_uc011mcl.1_Frame_Shift_Ins_p.A245fs|POMT1_uc011mcm.1_Frame_Shift_Ins_p.A367fs|POMT1_uc011mcn.1_Frame_Shift_Ins_p.A122fs	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	419	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGATGTTGCAGCCCCCCTGAGC	0.505												
FAM47C	442444	broad.mit.edu	37	X	37028275	37028275	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:37028275delC	uc004ddl.1	+	1	1806	c.1792delC	c.(1792-1794)CCCfs	p.P598fs		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	598										ovary(3)	3						CCCCCCGGAGCCCCCCGAGAC	0.647												
CCDC120	90060	broad.mit.edu	37	X	48925140	48925140	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:48925140delG	uc010nik.2	+	10	1892	c.1385delG	c.(1384-1386)TGGfs	p.W462fs	CCDC120_uc011mmq.1_Frame_Shift_Del_p.W450fs|CCDC120_uc004dmf.2_Frame_Shift_Del_p.W462fs|CCDC120_uc010nil.2_Frame_Shift_Del_p.W462fs|CCDC120_uc011mmr.1_Frame_Shift_Del_p.W462fs|CCDC120_uc011mms.1_Frame_Shift_Del_p.W450fs	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	462	Pro-rich.						protein binding			pancreas(1)	1						GGAACAGGCTGGGGGGAGCTG	0.697												
NLGN3	54413	broad.mit.edu	37	X	70387541	70387541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:70387541delG	uc004dzd.1	+	6	1794	c.1594delG	c.(1594-1596)GGGfs	p.G532fs	NLGN3_uc010nlb.1_Frame_Shift_Del_p.G492fs|NLGN3_uc004dzb.2_Frame_Shift_Del_p.G512fs|NLGN3_uc004dzc.2_Frame_Shift_Del_p.G395fs|NLGN3_uc011mps.1_Frame_Shift_Del_p.G492fs|NLGN3_uc004dze.2_Frame_Shift_Del_p.G330fs	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	532	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					CTATGTTTTTGGGGTTCCTAT	0.502												
PLS3	5358	broad.mit.edu	37	X	114879381	114879382	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:114879381_114879382delCT	uc004eqd.2	+	11	1614_1615	c.1224_1225delCT	c.(1222-1227)AACTCTfs	p.N408fs	PLS3_uc010nqg.2_Frame_Shift_Del_p.N190fs|PLS3_uc011mtf.1_Frame_Shift_Del_p.N395fs|PLS3_uc004eqe.2_Frame_Shift_Del_p.N408fs|PLS3_uc011mtg.1_Frame_Shift_Del_p.N381fs|PLS3_uc011mth.1_Frame_Shift_Del_p.N363fs|PLS3_uc011mti.1_Frame_Shift_Del_p.N84fs|PLS3_uc011mtj.1_Frame_Shift_Del_p.N2fs|PLS3_uc011mtk.1_Frame_Shift_Del_p.N69fs|PLS3_uc011mtl.1_RNA	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	408_409	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						ACTGGATGAACTCTCTTGGTGT	0.356												
CXorf56	63932	broad.mit.edu	37	X	118678354	118678354	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:118678354delT	uc004erk.1	-	4	431	c.385delA	c.(385-387)ACGfs	p.T129fs	CXorf56_uc004erj.1_Frame_Shift_Del_p.T80fs|CXorf56_uc011mtu.1_Frame_Shift_Del_p.T115fs	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	129							protein binding				0						TATATGTTCGTTTTCCCAAAG	0.428												
FRMD7	90167	broad.mit.edu	37	X	131211976	131211978	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:131211976_131211978delTCT	uc004ewn.2	-	12	2245_2247	c.2067_2069delAGA	c.(2065-2070)GAAGAT>GAT	p.E689del	FRMD7_uc011muy.1_In_Frame_Del_p.E674del	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	689					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AGCATCTTCATCTTCTTCATCTA	0.384												
UTS2	10911	broad.mit.edu	37	1	7913491	7913491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:7913490_7913490AT>A	uc001aos.3	-	0	76	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	UTS2_uc001aoq.3_5'UTR|UTS2_uc001aor.3_5'Flank	NM_021995	NP_068835	O95399	UTS2_HUMAN	Homo sapiens urotensin 2 (UTS2), transcript variant 1, mRNA.	0					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|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;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GTTGGTTTCCATTTTTTAATC	0.423												
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	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)		GCAAACGTACCTTTTTTTGTC	0.408												
PARK7	11315	broad.mit.edu	37	1	8029467	8029468	+	Splice_Site	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:8029466_8029467T>TA	uc001aou.4	+	4	357	c.252_splice	c.e4+2	p.E84_splice	PARK7_uc001aox.4_Splice_Site_p.E84_splice|PARK7_uc001aov.4_Intron	NM_001123377	NP_009193	Q99497	PARK7_HUMAN	Homo sapiens parkinson protein 7 (PARK7), transcript variant 2, mRNA.	84					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TTATCTGAGGTAAAAAATTCTA	0.347												
UBE4B	10277	broad.mit.edu	37	1	10190819	10190819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:10190818_10190818GA>G	uc021ogc.1	+	14	2699	c.2011_2011GA>G	c.(2011-2013)gaafs	p.E671fs	UBE4B_uc001aqs.4_Frame_Shift_Del_p.E620fs|UBE4B_uc001aqr.4_Frame_Shift_Del_p.E491fs|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Frame_Shift_Del_p.E75fs	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	620					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CATTACCCTGGAAAACACTCG	0.408												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ARHGAP29	9411	broad.mit.edu	37	1	94649826	94649827	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:94649825_94649826CCA>C	uc001dqj.4	-	18	2497_2498	c.2128_2129TGG>G	c.(2128-2130)ggafs	p.G710fs	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Frame_Shift_Del_p.G276fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	710	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TATTTTGTTTCCACACACACGA	0.297												
URB2	9816	broad.mit.edu	37	1	229772726	229772726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:229772725_229772725GA>G	uc001hts.1	+	3	2501	c.2365_2365GA>G	c.(2365-2367)gaafs	p.E789fs	URB2_uc009xfd.1_Frame_Shift_Del_p.E789fs	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	789						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CATCACACTGGAAAAAATATC	0.473												
OPN3	23596	broad.mit.edu	37	1	241767801	241767802	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:241767800_241767801G>GA	uc001hza.3	-	1	599_600	c.454_455C>TC	c.(454-456)tccfs	p.S152fs	OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Intron	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	Homo sapiens opsin 3 (OPN3), mRNA.	152					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCAGGCCCAGGAAAAATTGATC	0.540												
SRBD1	55133	broad.mit.edu	37	2	45826751	45826752	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:45826750_45826751T>TC	uc002rus.3	-	3	561_562	c.485_486A>GA	c.(484-486)ggafs	p.G162fs		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	162					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGCATGTACCTCCCCACACAGT	0.446												
MSH6	2956	broad.mit.edu	37	2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C	rs63749866		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGGAAGATACCCCCCCCTTC	0.436			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
SMEK2	57223	broad.mit.edu	37	2	55808823	55808825	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:55808822_55808824TAAG>T	uc002rzc.3	-	7	1936_1938	c.1244_1246CTTA>A	c.(1243-1248)cttatt>cAtt	p.415_416LI>H	SMEK2_uc002rzb.3_In_Frame_Del_p.415_416LI>H|SMEK2_uc002rzd.3_In_Frame_Del_p.415_416LI>H|SMEK2_uc002rza.3_In_Frame_Del_p.291_292LI>H	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	415						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACATTAATAAGAAGAATATC	0.374												
LRRTM1	347730	broad.mit.edu	37	2	80530804	80530804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:80530803_80530803GC>G	uc021vjt.1	-	0	142	c.142_142GC>C	c.(142-144)cggfs	p.R48fs	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Frame_Shift_Del_p.R48fs	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	48	LRRNT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TACAGCAGCCGCCCCTCGCAC	0.711										HNSCC(69;0.2)		
CTNNA2	1496	broad.mit.edu	37	2	80816547	80816549	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:80816546_80816548AATG>A	uc010ysh.2	+	13	2130_2132	c.2125_2127AATG>A	c.(2125-2127)aat>A	p.N709del	CTNNA2_uc010yse.2_In_Frame_Del_p.N709del|CTNNA2_uc010ysf.2_In_Frame_Del_p.N709del|CTNNA2_uc010ysg.2_In_Frame_Del_p.N709del|CTNNA2_uc010ysi.2_In_Frame_Del_p.N341del|CTNNA2_uc010ysj.2_In_Frame_Del_p.N38del	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	709					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.G708G(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGACAGCGGCAATGATATCATTG	0.473												
SLC9A4	389015	broad.mit.edu	37	2	103125345	103125345	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:103125344_103125344TA>T	uc002tbz.4	+	5	1897	c.1440_1440TA>T	c.(1438-1440)gttfs	p.V480fs		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	480					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTGGATGTTAAAAAAACCA	0.353												
GCC2	9648	broad.mit.edu	37	2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:109087883_109087883GA>G	uc002tec.3	+	5	2252	c.2098_2098GA>G	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Del_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACA	0.308												
PKP4	8502	broad.mit.edu	37	2	159481628	159481629	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:159481627_159481628T>TC	uc002tzv.3	+	6	1101_1102	c.841_842T>TC	c.(841-843)tccfs	p.S281fs	PKP4_uc002tzt.1_Frame_Shift_Ins_p.S133fs|PKP4_uc002tzu.3_Frame_Shift_Ins_p.S281fs|PKP4_uc002tzw.3_Frame_Shift_Ins_p.S281fs|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Frame_Shift_Ins_p.S279fs|PKP4_uc002uaa.3_Frame_Shift_Ins_p.S133fs	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	281					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GAGACCCGCCTCCCCAACAGCT	0.614										HNSCC(62;0.18)		
FIGN	55137	broad.mit.edu	37	2	164467543	164467543	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:164467542_164467542GC>G	uc002uck.1	-	2	1111	c.800_800GC>C	c.(799-801)gcafs	p.A267fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(4)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGG	0.607												
FASTKD1	79675	broad.mit.edu	37	2	170428530	170428531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:170428529_170428530G>GT	uc002uev.4	-	1	398_399	c.10_11C>AC	c.(10-12)acafs	p.T4fs	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	4					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAAAACAGGTGTTTTTTTCATT	0.366												
MYO3B	140469	broad.mit.edu	37	2	171240259	171240260	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:171240258_171240259T>TC	uc002ufy.3	+	11	1367_1368	c.1224_1225T>TC	c.(1222-1227)aatcccfs	p.N408fs	MYO3B_uc002ufv.3_Frame_Shift_Ins_p.N395fs|MYO3B_uc010fqb.1_Frame_Shift_Ins_p.N408fs|MYO3B_uc002ufz.3_Frame_Shift_Ins_p.N408fs|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465												
SGOL2	151246	broad.mit.edu	37	2	201436289	201436289	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:201436288_201436288GA>G	uc002uvw.2	+	6	1332	c.1219_1219GA>G	c.(1219-1221)gaafs	p.E407fs	SGOL2_uc010zhd.1_Frame_Shift_Del_p.E407fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.E407fs	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	407					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCCAGCTCTGAAAAAAAGAG	0.323												
CRYGD	1421	broad.mit.edu	37	2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGGCATCTGCACCCCCCCAGT	0.527												
EFHD1	80303	broad.mit.edu	37	2	233527580	233527580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:233527579_233527579GC>G	uc002vtc.3	+	1	578	c.370_370GC>G	c.(370-372)gccfs	p.A124fs	EFHD1_uc010fyf.3_Frame_Shift_Del_p.A28fs|EFHD1_uc002vtd.3_Frame_Shift_Del_p.A12fs	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	124	EF-hand 1.						calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAAGCTGGGGGCCCCCCAGAC	0.602												
SETD5	55209	broad.mit.edu	37	3	9517704	9517705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:9517703_9517704T>TG	uc003brt.3	+	22	4692_4693	c.4257_4258T>TG	c.(4255-4260)agtgggfs	p.S1419fs	SETD5_uc003bru.3_Frame_Shift_Ins_p.S1321fs|SETD5_uc003brv.3_Frame_Shift_Ins_p.S1308fs|SETD5_uc010hck.3_Frame_Shift_Ins_p.S901fs|SETD5_uc003brx.3_Frame_Shift_Ins_p.S1088fs	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1419										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACCGTGGGAGTGGGGGTGTGCA	0.569												
FLNB	2317	broad.mit.edu	37	3	58089788	58089789	+	Frame_Shift_Ins	INS	-	-	G	rs145086495		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:58089787_58089788T>TG	uc003djj.2	+	9	1750_1751	c.1585_1586T>TG	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACAC	0.594												
TAGLN3	29114	broad.mit.edu	37	3	111730715	111730715	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:111730714_111730714TA>T	uc003dym.3	+	4	836	c.458_splice	c.e4+2	p.R153_splice	TAGLN3_uc003dyl.3_Splice_Site_p.R153_splice|TAGLN3_uc003dyn.3_Splice_Site_p.R153_splice|TAGLN3_uc003dyo.3_Splice_Site_p.R153_splice	NM_001008272	NP_037391	Q9UI15	TAGL3_HUMAN	Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.	153					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						GTTTCACAGGTAAAAGCCTCT	0.552												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632												
CD86	942	broad.mit.edu	37	3	121828213	121828213	+	Frame_Shift_Del	DEL	A	A	-	rs144220043		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:121828212_121828212GA>G	uc003eet.3	+	4	932	c.804_804GA>G	c.(802-804)tggfs	p.W268fs	CD86_uc011bjo.2_Frame_Shift_Del_p.W186fs|CD86_uc011bjp.2_Frame_Shift_Del_p.W156fs|CD86_uc003eeu.3_Frame_Shift_Del_p.W262fs|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	268					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding	p.W268*(2)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TAATTCTATGGAAATGGAAGA	0.468												
AMOTL2	51421	broad.mit.edu	37	3	134086562	134086562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:134086561_134086561AG>A	uc003eqf.2	-	2	1110	c.993_993CT>T	c.(991-993)cctfs	p.P331fs	AMOTL2_uc003eqg.1_Frame_Shift_Del_p.P273fs|AMOTL2_uc003eqh.1_Frame_Shift_Del_p.P273fs|AMOTL2_uc003eqe.1_5'Flank	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	273										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GATGTGGGGGAGGGGGGTGCT	0.652												
PPP2R3A	5523	broad.mit.edu	37	3	135721069	135721069	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:135721068_135721068TA>T	uc003eqv.2	+	1	1345	c.728_728TA>T	c.(727-729)ttafs	p.L243fs	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	243					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCGAGGATTTAAAAAAATGC	0.328												
MRPS22	56945	broad.mit.edu	37	3	139067040	139067040	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:139067039_139067039TA>T	uc003etb.3	+	2	448	c.377_377TA>T	c.(376-378)ttafs	p.L126fs	MRPS22_uc003etc.3_Non-coding_Transcript	NM_020191	NP_064576	P82650	RT22_HUMAN	Homo sapiens mitochondrial ribosomal protein S22 (MRPS22), nuclear gene encoding mitochondrial protein, mRNA.	126						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						AAAGTACGATTAAAAATGCCA	0.358												
PLCH1	23007	broad.mit.edu	37	3	155212245	155212246	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:155212244_155212245A>AT	uc021xge.1	-	14	2197_2198	c.1920_1921T>AT	c.(1918-1923)aaatcafs	p.K640fs	PLCH1_uc021xgd.1_Frame_Shift_Ins_p.K640fs|PLCH1_uc021xgf.1_Frame_Shift_Ins_p.K622fs	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	640	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACTGCTCTGATTTTTGCTGAA	0.411												
RBPJ	3516	broad.mit.edu	37	4	26426086	26426086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:26426085_26426085CT>C	uc003grx.2	+	6	893	c.657_657CT>C	c.(655-657)gccfs	p.A219fs	RBPJ_uc003gry.2_Frame_Shift_Del_p.A204fs|RBPJ_uc003grz.2_Frame_Shift_Del_p.A219fs|RBPJ_uc011bxt.2_Frame_Shift_Del_p.A219fs|RBPJ_uc003gsa.2_Frame_Shift_Del_p.A205fs|RBPJ_uc003gsb.2_Frame_Shift_Del_p.A206fs	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	219					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	p.G218delG(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AGTGGGGAGCCTTTTTTATTC	0.358												
PDS5A	23244	broad.mit.edu	37	4	39915250	39915251	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:39915249_39915250CAA>C	uc003guv.4	-	8	1513_1514	c.973_974TTG>G	c.(973-975)tggfs	p.W325fs	PDS5A_uc003guw.4_Frame_Shift_Del_p.W325fs	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	325					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AAAACATTGCCAAAGAGGACGA	0.361												
CORIN	10699	broad.mit.edu	37	4	47647196	47647197	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:47647195_47647196A>ATC	uc003gxm.3	-	13	1952_1953	c.1859_1860T>GAT	c.(1858-1860)gatfs	p.D620fs	CORIN_uc011bzf.2_Frame_Shift_Ins_p.D481fs|CORIN_uc011bzg.2_Frame_Shift_Ins_p.D553fs|CORIN_uc011bzh.1_Frame_Shift_Ins_p.D583fs	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	620	LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTCCCAAAGATCTCTCTCTTT	0.371												
EPHA5	2044	broad.mit.edu	37	4	66467928	66467928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:66467927_66467927CA>C	uc003hcy.3	-	2	535	c.342_342TG>G	c.(340-342)ttgfs	p.L114fs	EPHA5_uc003hcx.3_Frame_Shift_Del_p.L45fs|EPHA5_uc003hcz.3_Frame_Shift_Del_p.L114fs|EPHA5_uc011cah.2_Frame_Shift_Del_p.L114fs|EPHA5_uc011cai.2_Frame_Shift_Del_p.L114fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.L114fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	114					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			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCAACTGGTCAAAAGCCAGT	0.453										TSP Lung(17;0.13)		
SLC4A4	8671	broad.mit.edu	37	4	72205146	72205146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:72205145_72205145TC>T	uc010iic.3	+	3	429	c.312_312TC>T	c.(310-312)gctfs	p.A104fs	SLC4A4_uc003hfy.3_Frame_Shift_Del_p.A104fs|SLC4A4_uc010iib.3_Frame_Shift_Del_p.A104fs|SLC4A4_uc003hfz.3_Frame_Shift_Del_p.A104fs|SLC4A4_uc003hgc.4_Frame_Shift_Del_p.A60fs|SLC4A4_uc003hga.2_5'UTR|SLC4A4_uc003hgb.3_Frame_Shift_Del_p.A60fs	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	104						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACAGCCCAGCTCCCCCTCAGC	0.537												
HERC3	8916	broad.mit.edu	37	4	89628027	89628029	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:89628026_89628028ACCT>A	uc003hrw.1	+	25	3234_3236	c.3068_3070ACCT>A	c.(3067-3072)gacctc>gAtc	p.L1024del	HERC3_uc011cdn.1_In_Frame_Del_p.L906del|HERC3_uc011cdo.1_In_Frame_Del_p.L468del|FAM13A-AS1_uc003hry.1_5'Flank	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	1024	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AACCTTCTTGACCTCCCCAAGTA	0.557											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PLRG1	5356	broad.mit.edu	37	4	155468219	155468219	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:155468218_155468218TA>T	uc003iny.3	-	4	385	c.260_splice	c.e4-1	p.G87_splice	PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	87						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTTCTTGTCCTAAAAAAACAC	0.308												
MYO10	4651	broad.mit.edu	37	5	16694606	16694607	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:16694605_16694606G>GC	uc003jft.4	-	26	4142_4143	c.3674_3675C>GC	c.(3673-3675)ggcfs	p.G1225fs	MYO10_uc011cnc.2_Frame_Shift_Ins_p.G104fs|MYO10_uc011cnd.2_Frame_Shift_Ins_p.G582fs|MYO10_uc011cne.2_Frame_Shift_Ins_p.G582fs|MYO10_uc010itx.3_Frame_Shift_Ins_p.G848fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1225	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564												
NIPBL	25836	broad.mit.edu	37	5	37064899	37064899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:37064898_37064898CA>C	uc003jkl.4	+	46	8818	c.8319_8319CA>C	c.(8317-8319)tacfs	p.Y2773fs	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2773					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACATTATTTACAAAAAAATTG	0.463												
ADAMTS6	11174	broad.mit.edu	37	5	64766684	64766685	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:64766683_64766684T>TA	uc003jtp.3	-	2	1197_1198	c.383_384A>TA	c.(382-384)ttafs	p.L128fs	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	128					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GACAGTTGTCTAAAAAATCATG	0.361												
TCF7	6932	broad.mit.edu	37	5	133479285	133479287	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:133479284_133479286GGAA>G	uc003kyt.3	+	8	1224_1226	c.1028_1030GGAA>G	c.(1027-1032)gggaag>gGag	p.K346del	TCF7_uc003kyv.3_In_Frame_Del_p.K231del|TCF7_uc003kyw.3_In_Frame_Del_p.K231del|TCF7_uc003kyu.2_In_Frame_Del_p.K231del|TCF7_uc003kyy.3_In_Frame_Del_p.K231del|TCF7_uc003kyx.3_In_Frame_Del_p.K144del|TCF7_uc003kyz.3_In_Frame_Del_p.K231del|TCF7_uc003kza.3_In_Frame_Del_p.K231del|TCF7_uc003kzb.3_In_Frame_Del_p.K160del|TCF7_uc010jdu.3_Non-coding_Transcript	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	346					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCCTGCAGGGGAAGAAGAAGAG	0.562												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
TTC1	7265	broad.mit.edu	37	5	159437837	159437837	+	Frame_Shift_Del	DEL	A	A	-	rs17849377		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:159437836_159437836GA>G	uc003lxu.3	+	1	351	c.301_301GA>G	c.(301-303)gaafs	p.E101fs		NM_003314	NP_003305	Q99614	TTC1_HUMAN	Homo sapiens tetratricopeptide repeat domain 1 (TTC1), mRNA.	101				E -> K (in Ref. 4; AAH00942).	protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AATAGAACTGGAAAAAAACAT	0.378												
ZNF354A	6940	broad.mit.edu	37	5	178140326	178140327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:178140325_178140326G>GT	uc003mjj.3	-	4	751_752	c.553_554C>AC	c.(553-555)acafs	p.T185fs		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	185					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTTTGGTGGTGTTTTTTCTCTG	0.356												
JARID2	3720	broad.mit.edu	37	6	15496636	15496637	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:15496635_15496636C>CG	uc003nbj.3	+	6	1423_1424	c.1179_1180C>CG	c.(1177-1182)ctcgggfs	p.L393fs	JARID2_uc011diu.1_Frame_Shift_Ins_p.L257fs|JARID2_uc011div.2_Frame_Shift_Ins_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Ins_p.L355fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	393					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.L393L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGTC	0.574												
OR12D3	81797	broad.mit.edu	37	6	29342656	29342656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:29342655_29342655TG>T	uc003nme.3	-	0	414	c.410_410CA>A	c.(409-411)cagfs	p.Q137fs		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AATACACACCTGGGGGTTCAT	0.493												
RDBP	7936	broad.mit.edu	37	6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-	rs146039608		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:31926205_31926205CG>C	uc003nyk.3	-	1	223	c.19_19CG>G	c.(19-21)ggafs	p.G7fs	RDBP_uc011dot.2_Frame_Shift_Del_p.G7fs|RDBP_uc021yvb.1_Frame_Shift_Del_p.G7fs|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	7					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TCGCTCAGTCCGGGGGGTATC	0.542												
RING1	6015	broad.mit.edu	37	6	33178990	33178990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:33178989_33178989TG>T	uc003odk.3	+	4	704	c.510_510TG>T	c.(508-510)agtfs	p.S170fs	RING1_uc011dqx.1_Frame_Shift_Del_p.S170fs|RING1_uc003odl.3_Frame_Shift_Del_p.S141fs	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAG	0.617												
UHRF1BP1	54887	broad.mit.edu	37	6	34839369	34839369	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:34839368_34839368TC>T	uc003oju.4	+	18	4223	c.3989_3989TC>T	c.(3988-3990)atcfs	p.I1330fs	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1330										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGATGATATCCCCCCCATC	0.512												
ANKS1A	23294	broad.mit.edu	37	6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:34951142_34951142AC>A	uc003ojx.4	+	6	1094	c.952_952AC>A	c.(952-954)accfs	p.T318fs	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	318						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGATAAAACCCCCCCACC	0.423												
HTR1E	3354	broad.mit.edu	37	6	87725847	87725848	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:87725846_87725847T>TC	uc003pli.3	+	1	1497_1498	c.794_795T>TC	c.(793-795)atcfs	p.I265fs	HTR1E_uc021zcg.1_Frame_Shift_Ins_p.I265fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510												
HIVEP2	3097	broad.mit.edu	37	6	143081634	143081635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:143081633_143081634G>GT	uc003qjd.3	-	8	6534_6535	c.5791_5792C>AC	c.(5791-5793)acafs	p.T1931fs		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTTGATCTTGTTTTTGGTGTT	0.485												
ARID1B	57492	broad.mit.edu	37	6	157502210	157502211	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:157502209_157502210AAG>A	uc003qqp.3	+	10	3203_3204	c.3203_3204AAG>A	c.(3202-3204)gaafs	p.E1068fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.E1081fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.E1121fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1068	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACCTTCATGGAAGAGAGAGGCT	0.579												
TRIM50	135892	broad.mit.edu	37	7	72732951	72732951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:72732950_72732950AC>A	uc003txy.1	-	3	798	c.597_597GT>T	c.(595-597)ggtfs	p.G199fs	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Frame_Shift_Del_p.G199fs|TRIM50_uc003txz.1_Frame_Shift_Del_p.G199fs	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	199						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CACGGGTGTGACCCCCTATCC	0.662												
EPHB6	2051	broad.mit.edu	37	7	142562398	142562398	+	Frame_Shift_Del	DEL	C	C	-	rs145544148		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:142562397_142562397GC>G	uc011kst.2	+	6	1626	c.839_839GC>G	c.(838-840)agcfs	p.S280fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.S280fs|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	280	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.V279V(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCAGGAGGCAGCCCCCCCAGG	0.692												
NOS3	4846	broad.mit.edu	37	7	150698398	150698399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:150698397_150698398A>AG	uc003wif.3	+	10	1608_1609	c.1312_1313A>AG	c.(1312-1314)aggfs	p.R438fs	NOS3_uc011kuy.2_Frame_Shift_Ins_p.R232fs|NOS3_uc011kva.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kuz.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kvb.2_Frame_Shift_Ins_p.R438fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	438	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCAGAAGGCCAGGGGGGGCTGC	0.614												
FBXO25	26260	broad.mit.edu	37	8	381399	381399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:381398_381398GA>G	uc003wox.3	+	2	458	c.192_192GA>G	c.(190-192)tcgfs	p.S64fs	FBXO25_uc003woy.3_Frame_Shift_Del_p.S64fs|FBXO25_uc003woz.3_Frame_Shift_Del_p.R14fs	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	64	Interaction with beta-actin.					SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AATATGCATCGAAAAAAAGGA	0.259												
TNKS	8658	broad.mit.edu	37	8	9565940	9565940	+	Frame_Shift_Del	DEL	A	A	-	rs56411177	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:9565939_9565939TA>T	uc003wss.3	+	8	1520	c.1515_1515TA>T	c.(1513-1515)gttfs	p.V505fs	TNKS_uc011kwv.1_Frame_Shift_Del_p.V505fs|TNKS_uc011kww.2_Frame_Shift_Del_p.V268fs	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	505					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TAGCTAAAGTTAAAAAAACAC	0.328												
KIAA1967	57805	broad.mit.edu	37	8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:22472974_22472974AC>A	uc003xch.3	+	11	1491	c.1242_1242AC>A	c.(1240-1242)ggafs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCAGCCGGGACCCCCCCGGC	0.582												
LOXL2	4017	broad.mit.edu	37	8	23155605	23155605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:23155604_23155604CT>C	uc003xdh.1	-	13	2616	c.2277_2277AG>G	c.(2275-2277)aagfs	p.K759fs	LOXL2_uc010lty.1_Frame_Shift_Del_p.S261fs	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	759					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGTGCTCAAACTTTTTTTCCG	0.537												
SCARA5	286133	broad.mit.edu	37	8	27729504	27729504	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:27729503_27729503AC>A	uc003xgj.3	-	8	2047	c.1436_1436GT>T	c.(1435-1437)gtgfs	p.V479fs	SCARA5_uc010luz.3_Frame_Shift_Del_p.V254fs	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	479	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ACAGTTTGTCACCCCCCATTT	0.572												
MTFR1	9650	broad.mit.edu	37	8	66619376	66619377	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:66619375_66619376GAA>G	uc011lep.2	+	5	860_861	c.648_649GAA>G	c.(646-651)gagaaafs	p.E216fs	MTFR1_uc003xvm.2_Frame_Shift_Del_p.E216fs|MTFR1_uc003xvn.2_Frame_Shift_Del_p.E183fs	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	216						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AACGAAGAGAGAAAAGAGCCAA	0.470												
VPS13B	157680	broad.mit.edu	37	8	100865890	100865890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:100865889_100865889TG>T	uc003yiv.3	+	55	10458	c.10347_10347TG>T	c.(10345-10347)tgtfs	p.C3449fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.C3424fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3449					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGATCTGCTGTGGGGACCTGC	0.512												
FLJ43860	389690	broad.mit.edu	37	8	142506590	142506590	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:142506589_142506589AG>A	uc003ywi.2	-	1	174	c.93_93CT>T	c.(91-93)cctfs	p.P31fs	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	31							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGTGGAGACAGGGGGGGAGA	0.557												
C9orf131	138724	broad.mit.edu	37	9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCC	0.527												
IKBKAP	8518	broad.mit.edu	37	9	111681561	111681562	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:111681560_111681561C>CA	uc004bdm.4	-	6	1141_1142	c.621_622G>TG	c.(619-624)tttgctfs	p.F207fs	IKBKAP_uc004bdl.3_5'Flank|IKBKAP_uc011lwc.2_Frame_Shift_Ins_p.F93fs|IKBKAP_uc010mtq.3_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	207					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACACTCACAGCAAAAAACTGTC	0.371												
ENG	2022	broad.mit.edu	37	9	130588851	130588851	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:130588850_130588850GC>G	uc004bsj.4	-	3	875	c.462_462GC>C	c.(460-462)ggcfs	p.G154fs	ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Frame_Shift_Del_p.G154fs	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	154					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						AGGTGATGGGGCCCCTCTCAG	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia			
POMT1	10585	broad.mit.edu	37	9	134390827	134390828	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134390826_134390827G>GC	uc004cav.3	+	12	1457_1458	c.1255_1256G>GC	c.(1255-1257)gccfs	p.A419fs	POMT1_uc004cax.3_Frame_Shift_Ins_p.A397fs|POMT1_uc011mcj.2_Frame_Shift_Ins_p.A175fs|POMT1_uc004cau.3_Frame_Shift_Ins_p.A397fs|POMT1_uc004caw.3_Frame_Shift_Ins_p.A343fs|POMT1_uc011mck.2_Frame_Shift_Ins_p.A280fs|POMT1_uc011mcl.2_Frame_Shift_Ins_p.A245fs|POMT1_uc011mcm.2_Frame_Shift_Ins_p.A367fs	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	419	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGATGTTGCAGCCCCCCTGAGC	0.505												
HKDC1	80201	broad.mit.edu	37	10	70987067	70987068	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:70987066_70987067A>ACC	uc001jpf.4	+	1	300_301	c.167_168A>ACC	c.(166-168)aacfs	p.N56fs		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	56					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAGGACACCAACCCCACGGCTG	0.599												
NRAP	4892	broad.mit.edu	37	10	115348832	115348832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:115348831_115348831GC>G	uc001lal.3	-	41	5263	c.5099_5099GC>C	c.(5098-5100)gcafs	p.A1700fs	HABP2_uc021pyr.1_3'UTR|HABP2_uc001lai.4_3'UTR|NRAP_uc009xyb.3_Frame_Shift_Del_p.A452fs|NRAP_uc001laj.3_Frame_Shift_Del_p.A1699fs|NRAP_uc001lak.3_Frame_Shift_Del_p.A1664fs	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1699						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CACTGCTTCTGCCCCCCGCTG	0.572												
C10orf137	26098	broad.mit.edu	37	10	127426891	127426891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:127426890_127426890CA>C	uc001liq.1	+	14	2150	c.1857_1857CA>C	c.(1855-1857)atcfs	p.I619fs	C10orf137_uc001lin.3_Frame_Shift_Del_p.I585fs|C10orf137_uc001lip.1_Frame_Shift_Del_p.I323fs|C10orf137_uc001lio.1_Frame_Shift_Del_p.I585fs|C10orf137_uc001lir.3_Frame_Shift_Del_p.I113fs|C10orf137_uc001lis.1_5'Flank	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATAGCAGCATCAAAAAAGAAA	0.423												
MUC6	4588	broad.mit.edu	37	11	1026401	1026402	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1026400_1026401C>CG	uc001lsw.2	-	19	2523_2524	c.2472_2473G>CG	c.(2470-2475)cccgagfs	p.P824fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	824					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.E825fs*6(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCACTCCTCGGGGGGCACAC	0.649												
KRTAP5-1	387264	broad.mit.edu	37	11	1605953	1605953	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1605952_1605952GC>G	uc001ltu.1	-	0	562	c.528_528GC>C	c.(526-528)ggcfs	p.G176fs	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	176	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGCCACAGCCCCCCTTGG	0.682												
DNHD1	144132	broad.mit.edu	37	11	6524012	6524012	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:6524011_6524011GA>G	uc001mdw.4	+	3	1339	c.775_775GA>G	c.(775-777)gaafs	p.E259fs	DNHD1_uc001mdp.3_Frame_Shift_Del_p.E259fs	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	259					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGTTCCCAGGGAAAAGGCCTT	0.488												
PIK3C2A	5286	broad.mit.edu	37	11	17190949	17190949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:17190948_17190948GT>G	uc001mmq.4	-	0	406	c.341_341AC>C	c.(340-342)acafs	p.T114fs	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Frame_Shift_Del_p.T114fs|PIK3C2A_uc009ygv.1_Frame_Shift_Del_p.T114fs	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	114	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAATACAGGTGTTTTTTTAGT	0.408												
PTPN5	84867	broad.mit.edu	37	11	18751286	18751286	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:18751285_18751285TG>T	uc001mpd.3	-	12	1841	c.1410_1410CA>A	c.(1408-1410)ccafs	p.P470fs	PTPN5_uc001mpb.3_Frame_Shift_Del_p.P438fs|PTPN5_uc001mpc.3_Frame_Shift_Del_p.P470fs|PTPN5_uc010rdj.2_Frame_Shift_Del_p.P414fs|PTPN5_uc001mpf.3_Frame_Shift_Del_p.P446fs|PTPN5_uc001mpe.3_Frame_Shift_Del_p.P438fs|PTPN5_uc010rdk.2_Frame_Shift_Del_p.P415fs	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	470	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGTGCAGGAGTGGGGGGGCCC	0.677												
CTNND1	1500	broad.mit.edu	37	11	57564070	57564070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:57564069_57564069TG>T	uc001nmc.4	+	5	1132	c.561_561TG>T	c.(559-561)aatfs	p.N187fs	CTNND1_uc001nlf.2_Frame_Shift_Del_p.N187fs|CTNND1_uc021qjk.1_Frame_Shift_Del_p.N187fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.N187fs|CTNND1_uc001nlj.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nlq.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlr.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nln.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nli.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nlo.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlp.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nlu.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlt.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlv.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nls.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlw.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nmf.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nlk.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nme.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nll.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nlm.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nmi.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nmg.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nmh.4_Frame_Shift_Del_p.N187fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	187					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.G186G(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGAATGGCAATGGGGGACCTG	0.517												
GLYATL2	219970	broad.mit.edu	37	11	58604601	58604601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:58604600_58604600AT>A	uc001nnd.4	-	4	495	c.364_364AT>T	c.(364-366)tcafs	p.S122fs	GLYATL2_uc009ymq.3_Frame_Shift_Del_p.S122fs	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	122						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACCTGCACTGATTTTGAAGTT	0.403												
TMEM218	219854	broad.mit.edu	37	11	124971182	124971182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:124971181_124971181TA>T	uc001qbs.3	-	2	781	c.129_129TA>A	c.(127-129)ttafs	p.L43fs	TMEM218_uc010sax.2_Frame_Shift_Del_p.L43fs|TMEM218_uc010saw.2_Frame_Shift_Del_p.L78fs|TMEM218_uc001qbt.3_Frame_Shift_Del_p.L78fs|TMEM218_uc010say.2_Intron	NM_001080546	NP_001074015	A2RU14	TM218_HUMAN	Homo sapiens transmembrane protein 218 (TMEM218), mRNA.	43						integral to membrane				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						CACCGAAGAATAAAAAAATGA	0.408												
DYRK4	8798	broad.mit.edu	37	12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-	rs80196697		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACAACAGGGGGAAAAAAAGAT	0.393												
CD4	920	broad.mit.edu	37	12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562												
GRIN2B	2904	broad.mit.edu	37	12	14019044	14019045	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:14019043_14019044T>TG	uc001rbt.2	-	1	278_279	c.99_100A>CA	c.(97-102)cccagcfs	p.P33fs		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	33					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.P33L(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589												
ALG10	84920	broad.mit.edu	37	12	34179308	34179308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:34179307_34179307CT>C	uc001rlm.3	+	2	1198	c.879_879CT>C	c.(877-879)tacfs	p.Y293fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	293					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTATTCTACTTTTTTTCAT	0.348												
MLL2	8085	broad.mit.edu	37	12	49447773	49447773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:49447772_49447772GC>G	uc001rta.4	-	4	662	c.662_662GC>C	c.(661-663)gctfs	p.A221fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	221					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGATATGCAGCCCCCTCACT	0.507			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
RACGAP1	29127	broad.mit.edu	37	12	50384072	50384073	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:50384071_50384072C>CA	uc001rvt.2	-	18	2188_2189	c.1878_1879G>TG	c.(1876-1881)tttgctfs	p.F626fs	RACGAP1_uc009zlm.1_Frame_Shift_Ins_p.F626fs|RACGAP1_uc001rvs.2_Frame_Shift_Ins_p.F626fs|RACGAP1_uc001rvu.2_Frame_Shift_Ins_p.F626fs	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	626					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	GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding	p.A627V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ATTGGAGAAGCAAAAAAGTTGC	0.406												
TENC1	23371	broad.mit.edu	37	12	53453399	53453399	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:53453398_53453398TG>T	uc001sbp.3	+	17	2108	c.1973_1973TG>T	c.(1972-1974)atgfs	p.M658fs	TENC1_uc001sbl.3_Frame_Shift_Del_p.M534fs|TENC1_uc001sbn.3_Frame_Shift_Del_p.M668fs|TENC1_uc001sbq.3_Frame_Shift_Del_p.M153fs|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Frame_Shift_Del_p.M153fs	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	658					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCACCTGAGATGGGGAAACCA	0.657												
MBD6	114785	broad.mit.edu	37	12	57921732	57921733	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:57921731_57921732T>TG	uc001soj.1	+	8	2561_2562	c.2337_2338T>TG	c.(2335-2340)cctgggfs	p.P779fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	779	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTCCTCCCTGGGGGGGGAGC	0.629												
TMTC3	160418	broad.mit.edu	37	12	88588949	88588950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:88588948_88588949C>CA	uc001tau.3	+	13	2487_2488	c.2267_2268C>CA	c.(2266-2268)gcafs	p.A756fs		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	757						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATACTAGGAGCAAAAAAATGTT	0.332												
GNPTAB	79158	broad.mit.edu	37	12	102158002	102158003	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:102158001_102158002C>CT	uc001tit.3	-	12	2885_2886	c.2693_2694G>AG	c.(2692-2694)aagfs	p.K898fs		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	898					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGGAAATACTTTTTTTTCTC	0.371												
MVK	4598	broad.mit.edu	37	12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-	rs104895373		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662												
RASAL1	8437	broad.mit.edu	37	12	113553853	113553853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:113553852_113553852TC>T	uc001tun.2	-	9	1037	c.736_736GA>A	c.(736-738)aacfs	p.N246fs	RASAL1_uc010syp.2_Frame_Shift_Del_p.N246fs|RASAL1_uc001tul.3_Frame_Shift_Del_p.N246fs|RASAL1_uc001tum.2_Frame_Shift_Del_p.N246fs|RASAL1_uc010syq.2_Frame_Shift_Del_p.N246fs|RASAL1_uc001tuo.4_Frame_Shift_Del_p.N246fs|RASAL1_uc010syr.2_Frame_Shift_Del_p.N246fs	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	246					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCACCCAGGTTCCCCCTGTCC	0.572												
SBNO1	55206	broad.mit.edu	37	12	123794283	123794284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:123794282_123794283A>AT	uc010tap.2	-	24	3416_3417	c.3416_3417T>AT	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CATATCTTCCATTTTTTTTGGC	0.386												
UTP14C	9724	broad.mit.edu	37	13	52604361	52604361	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:52604360_52604360CA>C	uc001vgb.3	+	1	1982	c.1420_1420CA>C	c.(1420-1422)caafs	p.Q474fs	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Frame_Shift_Del_p.Q474fs	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	474					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GTCCAGGAAGCAAAAAGCAAG	0.493												
ATG2B	55102	broad.mit.edu	37	14	96770878	96770878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:96770877_96770877TC>T	uc001yfi.3	-	31	5162	c.4797_4797GA>A	c.(4795-4797)ggafs	p.G1599fs		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1599								p.G1599fs*9(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCCTTCCTTTTCCCCCACATA	0.408												
HSP90AA1	3320	broad.mit.edu	37	14	102551161	102551162	+	In_Frame_Ins	INS	-	-	TCT			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:102551160_102551161A>ATCT	uc001yku.4	-	4	1028_1029	c.838_839T>AGAT	c.(838-840)att>AGATt	p.I280R	HSP90AA1_uc001ykv.4_In_Frame_Ins_p.I402R|HSP90AA1_uc001ykw.1_In_Frame_Ins_p.I101R|HSP90AA1_uc001ykx.1_In_Frame_Ins_p.I269R	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	280					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	cttttccttaatcttcttcttc	0.386												
AMN	81693	broad.mit.edu	37	14	103395179	103395181	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:103395178_103395180CTCT>C	uc001ymg.4	+	4	412_414	c.379_381CTCT>C	c.(379-381)ctc>C	p.L127del	AMN_uc001ymh.4_In_Frame_Del_p.L73del	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	Homo sapiens amnionless homolog (mouse) (AMN), mRNA.	127					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCACCTGGCCTCTTCTTCGTGG	0.695												
INF2	64423	broad.mit.edu	37	14	105169757	105169758	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:105169756_105169757TGC>T	uc001ypb.2	+	3	775_776	c.632_633TGC>T	c.(631-633)ctgfs	p.L211fs	INF2_uc001yoy.4_Frame_Shift_Del_p.L211fs|INF2_uc001ypc.2_Frame_Shift_Del_p.L211fs	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	211	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding	p.R214fs*38(1)|p.R214fs*>21(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCGAGGACCTGCGCGCGCGCA	0.644												
MKRN3	7681	broad.mit.edu	37	15	23811405	23811406	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:23811404_23811405G>GC	uc001ywh.4	+	0	951_952	c.475_476G>GC	c.(475-477)gccfs	p.A159fs	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Frame_Shift_Ins_p.A159fs	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	159						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGTGGCGGAAGCCCCCCCGGCT	0.644												
ALPK3	57538	broad.mit.edu	37	15	85400267	85400268	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:85400266_85400267C>CA	uc002ble.3	+	5	3070_3071	c.2903_2904C>CA	c.(2902-2904)ccafs	p.P968fs		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	968					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTTGTTTCCCAAAAAAACCTG	0.540												
PLK1	5347	broad.mit.edu	37	16	23701273	23701275	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:23701272_23701274TGGA>T	uc002dlz.1	+	9	1753_1755	c.1700_1702TGGA>T	c.(1699-1704)ctggag>cTag	p.E569del		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	569	POLO box 2.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CTGAGTCTCCTGGAGGAGTACGG	0.616												
SALL1	6299	broad.mit.edu	37	16	51175644	51175646	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:51175643_51175645TGCC>T	uc021tif.1	-	1	519_521	c.197_199GGCA>A	c.(196-201)ggcagc>gAgc	p.66_67GS>E	SALL1_uc021tid.1_In_Frame_Del_p.66_67GS>E|SALL1_uc021tie.1_In_Frame_Del_p.163_164GS>E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	163					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T66P(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTGGAGGAgctgccgccgccgcc	0.611												
TAF1C	9013	broad.mit.edu	37	16	84213037	84213037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:84213036_84213036AG>A	uc002fhn.3	-	13	2363	c.2121_2121CT>T	c.(2119-2121)cctfs	p.P707fs	TAF1C_uc010vnz.2_Frame_Shift_Del_p.P375fs|TAF1C_uc002fho.3_Frame_Shift_Del_p.P230fs|TAF1C_uc010voa.2_Frame_Shift_Del_p.P375fs|TAF1C_uc002fhm.3_Frame_Shift_Del_p.P613fs|TAF1C_uc010vnx.2_Frame_Shift_Del_p.P681fs|TAF1C_uc010vny.2_Frame_Shift_Del_p.P298fs	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	707					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	p.P707fs*7(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACTCGGGTGCAGGGGGTGGCT	0.706												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688												
TP53	7157	broad.mit.edu	37	17	7579471	7579471	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:7579470_7579470CG>C	uc002gim.2	-	3	411	c.217_217CG>G	c.(217-219)gtgfs	p.V73fs	TP53_uc002gig.1_Frame_Shift_Del_p.V73fs|TP53_uc002gih.3_Frame_Shift_Del_p.V73fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Del_p.V73fs|TP53_uc010cnh.1_Frame_Shift_Del_p.V73fs|TP53_uc002gij.2_Frame_Shift_Del_p.V73fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Frame_Shift_Del_p.V34fs|TP53_uc010cnk.1_Frame_Shift_Del_p.V88fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(16)|p.0?(8)|p.R72fs*51(7)|p.V73L(6)|p.V73M(4)|p.R72P(3)|p.G59fs*23(3)|p.V73fs*9(2)|p.R72C(2)|p.R72H(2)|p.D57_A76del20(2)|p.V73fs*50(2)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.V73fs*75(1)|p.E68_A78del(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.V73E(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GCAGGGGCCACGGGGGGAGCA	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)		
KRT23	25984	broad.mit.edu	37	17	39092737	39092738	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:39092736_39092737T>TC	uc002hvm.1	-	1	708_709	c.119_120A>GA	c.(118-120)ggafs	p.G40fs	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Frame_Shift_Ins_p.G40fs|KRT23_uc002hvn.1_Frame_Shift_Ins_p.G40fs	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	40	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AGATGCGGGCTCCCCCCGCACC	0.698												
FKBP10	60681	broad.mit.edu	37	17	39969301	39969301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:39969300_39969300GC>G	uc002hxv.2	+	0	339	c.14_14GC>G	c.(13-15)ggcfs	p.G5fs	LEPREL4_uc002hxt.3_5'Flank|LEPREL4_uc002hxu.3_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	5					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TTCCCCGCGGGCCCCCCCAGC	0.746												
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGC	0.632												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
NOTUM	147111	broad.mit.edu	37	17	79914942	79914942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:79914941_79914941GC>G	uc010wvg.2	-	6	977	c.705_705GC>C	c.(703-705)ggcfs	p.G235fs		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	235						extracellular region	hydrolase activity	p.G234G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCACCCCGGTGCCCCCCGCGC	0.697												
TBCD	6904	broad.mit.edu	37	17	80721911	80721912	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80721910_80721911C>CT	uc002kfy.1	+	2	435_436	c.305_306C>CT	c.(304-306)gctfs	p.A102fs	TBCD_uc002kfx.1_Frame_Shift_Ins_p.A85fs|TBCD_uc002kfz.3_Frame_Shift_Ins_p.A102fs	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	102					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTACATCTGGCTTTTAAATTTC	0.376												
ROCK1	6093	broad.mit.edu	37	18	18629105	18629106	+	Frame_Shift_Ins	INS	-	-	A	rs35810558		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:18629104_18629105G>GA	uc002kte.3	-	3	1303_1304	c.362_363C>TC	c.(361-363)ttcfs	p.F121fs		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	121	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTCTTCCCAGAAAAAAGCAGA	0.361												
LMAN1	3998	broad.mit.edu	37	18	57021815	57021816	+	Splice_Site	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:57021814_57021815T>TA	uc002lhz.3	-	4	510	c.478_splice	c.e4-1	p.K160_splice	LMAN1_uc010xek.1_Splice_Site_p.K160_splice	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	160	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATTATTTTTCTAAAAAAAAGGA	0.292												
TMX3	54495	broad.mit.edu	37	18	66367694	66367695	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:66367693_66367694CTA>C	uc002lkf.3	-	5	475_476	c.340_341TAG>G	c.(340-342)agafs	p.R114fs	TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Intron|TMX3_uc002lkg.4_Frame_Shift_Del_p.R114fs	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	114	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TCGTGGTCCTCTATAATTATAT	0.262												
UBXN6	80700	broad.mit.edu	37	19	4446879	4446880	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:4446878_4446879C>CA	uc002man.2	-	6	751_752	c.654_655G>TG	c.(652-657)tttgagfs	p.F218fs	UBXN6_uc002mam.2_Frame_Shift_Ins_p.F165fs	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	218	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCAATGGCCTCAAAAAACTCGT	0.644												
TRIP10	9322	broad.mit.edu	37	19	6750380	6750381	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:6750379_6750380A>AC	uc002mfs.3	+	12	1538_1539	c.1472_1473A>AC	c.(1471-1473)gacfs	p.D491fs	TRIP10_uc010dux.2_Frame_Shift_Ins_p.D435fs|TRIP10_uc002mfr.3_Frame_Shift_Ins_p.D435fs|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	491	Interaction with CDC42.|Interaction with DNM2 and WASL (By similarity).|Interaction with PDE6G (By similarity).|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729).	actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CGGCCTCCCGACCCCCCCGCTA	0.658												
MAN2B1	4125	broad.mit.edu	37	19	12759984	12759984	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:12759983_12759983GC>G	uc002mub.2	-	19	2479	c.2403_2403GC>C	c.(2401-2403)ggcfs	p.G801fs	MAN2B1_uc010dyv.1_Frame_Shift_Del_p.G800fs	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	801			G -> D (in AM; no residual enzyme activity).		protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAGGCTGCTGCCCCCCTGGG	0.622												
LSR	51599	broad.mit.edu	37	19	35757845	35757845	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:35757844_35757844GC>G	uc002nyl.3	+	7	1485	c.1262_1262GC>G	c.(1261-1263)ggcfs	p.G421fs	LSR_uc010xsr.2_Frame_Shift_Del_p.G313fs|LSR_uc002nym.3_Frame_Shift_Del_p.G402fs|LSR_uc002nyn.3_Frame_Shift_Del_p.G353fs|LSR_uc002nyo.3_Frame_Shift_Del_p.G401fs|LSR_uc002nyp.3_Frame_Shift_Del_p.G363fs|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	421					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCTCGACCTGGCCCCCCCAGT	0.622												
DYRK1B	9149	broad.mit.edu	37	19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:40316611_40316611TG>T	uc002omj.3	-	10	1914	c.1634_1634CA>A	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_uc002omi.3_Frame_Shift_Del_p.Q517fs|DYRK1B_uc002omk.3_Frame_Shift_Del_p.Q505fs	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	545					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GTATCGGGGCTGGGGGGGTAA	0.687												
BAX	581	broad.mit.edu	37	19	49458971	49458972	+	Frame_Shift_Ins	INS	-	-	G	rs141306106	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49458970_49458971T>TG	uc002plk.3	+	2	182_183	c.113_114T>TG	c.(112-114)atgfs	p.M38fs	BAX_uc002plf.1_Frame_Shift_Ins_p.M38fs|BAX_uc002plg.1_Frame_Shift_Ins_p.M1fs|BAX_uc002plh.1_Intron|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Ins_p.M38fs|BAX_uc002pll.3_Intron|BAX_uc002plm.3_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	38					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.E41fs*19(1)|p.R37*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594												
CGB8	94115	broad.mit.edu	37	19	49558254	49558255	+	In_Frame_Ins	INS	-	-	CAG			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49558253_49558254A>ACAG	uc002pmd.3	-	1	1247_1248	c.27_28T>CTGT	c.(25-30)ctgttg>ctCTGTtg	p.L10C	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_In_Frame_Ins_p.L10C	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	10					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	AGCAGCAGCAACAGCAGCAGCC	0.653												
PLCB4	5332	broad.mit.edu	37	20	9352960	9352960	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:9352959_9352959AT>A	uc021wam.1	+	7	610	c.595_595AT>A	c.(595-597)attfs	p.I199fs	PLCB4_uc010gbw.1_Frame_Shift_Del_p.I199fs|PLCB4_uc010gbx.3_Frame_Shift_Del_p.I199fs|PLCB4_uc021wal.1_Frame_Shift_Del_p.I199fs|PLCB4_uc002wnh.3_Frame_Shift_Del_p.I46fs	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	199					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAATGATGAAATTGAGCCCAC	0.373												
RIN2	54453	broad.mit.edu	37	20	19981453	19981454	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:19981452_19981453C>CA	uc002wro.2	+	11	2856_2857	c.2707_2708C>CA	c.(2707-2709)caafs	p.Q903fs	RIN2_uc010gcu.2_Frame_Shift_Ins_p.Q421fs|RIN2_uc010gcv.2_Frame_Shift_Ins_p.Q648fs	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	854					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CACTTACCCTCAAAAAATCAAG	0.520												
CD93	22918	broad.mit.edu	37	20	23065992	23065992	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:23065991_23065991TC>T	uc002wsv.3	-	0	987	c.839_839GA>A	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.D280N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAGGAGCCATCCCCCCCTTC	0.632												
GDF5	8200	broad.mit.edu	37	20	34025211	34025211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:34025210_34025210TG>T	uc010gfc.1	-	0	740	c.499_499CA>A	c.(499-501)atcfs	p.I167fs	GDF5_uc002xck.1_Frame_Shift_Del_p.I167fs	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	167					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGGGGTGTGATGGGGGGTGGG	0.632												
SMARCB1	6598	broad.mit.edu	37	22	24175857	24175859	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:24175856_24175858GAGA>G	uc002zyd.3	+	7	1318_1320	c.1111_1113GAGA>G	c.(1111-1113)gag>G	p.E371del	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_In_Frame_Del_p.E362del|SMARCB1_uc002zyc.3_In_Frame_Del_p.E353del	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	362					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.N371S(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGCTGAGATGGAGAAGAAGATCC	0.631			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid						
RPGR	6103	broad.mit.edu	37	X	38144935	38144935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:38144934_38144934CT>C	uc004ded.1	-	14	3486	c.3318_3318AG>G	c.(3316-3318)aagfs	p.K1106fs	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	888					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TAGTAACTGACTTTTTTTGAT	0.388												
IRS4	8471	broad.mit.edu	37	X	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545												
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGG	0.607												
MST4	51765	broad.mit.edu	37	X	131203605	131203605	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:131203604_131203604CA>C	uc004ewk.1	+	6	997	c.696_696CA>C	c.(694-696)cccfs	p.P232fs	MST4_uc004ewl.1_Frame_Shift_Del_p.P155fs|MST4_uc011mux.1_Frame_Shift_Del_p.P254fs|MST4_uc010nrj.1_Frame_Shift_Del_p.P232fs|MST4_uc004ewm.1_Intron	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	232	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTCTTATTCCCAAAAACAATC	0.388												
FLNA	2316	broad.mit.edu	37	X	153583264	153583264	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:153583263_153583263TG>T	uc004fkk.2	-	30	5396	c.5147_5147CA>A	c.(5146-5148)cagfs	p.Q1716fs	FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Frame_Shift_Del_p.Q1708fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1716					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTGCCCGGCTGGGGGGCCGT	0.612												
