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
MIB2	142678	broad.mit.edu	37	1	1564542	1564542	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:1564542G>A	uc001agg.2	+	17	2533	c.2406G>A	c.(2404-2406)GCG>GCA	p.A802A	MIB2_uc001agh.2_Silent_p.A788A|MIB2_uc001agi.2_Silent_p.A798A|MIB2_uc001agj.2_Silent_p.A643A|MIB2_uc001agk.2_Silent_p.A737A|MIB2_uc001agl.1_Silent_p.A758A|MIB2_uc001agm.2_Silent_p.A679A|MIB2_uc010nyq.1_Silent_p.A758A|MIB2_uc009vkh.2_Silent_p.A608A|MIB2_uc001agn.2_Silent_p.A434A|MIB2_uc001ago.2_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	802					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGGCAGCGCGGAGCTGACGG	0.771000												
PRDM16	63976	broad.mit.edu	37	1	3328498	3328498	+	Missense_Mutation	SNP	C	C	G	rs35579804		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:3328498C>G	uc001akf.2	+	9	1817	c.1737C>G	c.(1735-1737)TTC>TTG	p.F579L	PRDM16_uc001akc.2_Missense_Mutation_p.F579L|PRDM16_uc001akd.2_Missense_Mutation_p.F579L|PRDM16_uc001ake.2_Missense_Mutation_p.F579L|PRDM16_uc009vlh.2_Missense_Mutation_p.F280L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	579					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGAGAAGTTCGAGAGCCGCC	0.662000			T	EVI1	MDS|AML							
DNAJC11	55735	broad.mit.edu	37	1	6706039	6706039	+	Splice_Site	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:6706039C>T	uc001aof.2	-	8	811	c.705_splice	c.e8-1	p.C235_splice	DNAJC11_uc010nzt.1_Splice_Site_p.C197_splice|DNAJC11_uc001aog.2_Splice_Site_p.C235_splice|DNAJC11_uc010nzu.1_Splice_Site_p.C145_splice	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11						protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCACAAAGCTGGAGAGACA	0.532000												
CAMTA1	23261	broad.mit.edu	37	1	7724156	7724156	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:7724156C>T	uc001aoi.2	+	9	1756	c.1549C>T	c.(1549-1551)CCC>TCC	p.P517S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCACTCGCCACCCGGGGAGCG	0.592000												
NBPF3	84224	broad.mit.edu	37	1	21806543	21806543	+	Splice_Site	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:21806543G>C	uc001ber.2	+	11	1559	c.1209_splice	c.e11-1	p.R403_splice	NBPF3_uc001bes.2_Splice_Site_p.R347_splice|NBPF3_uc009vqb.2_Splice_Site_p.R391_splice|NBPF3_uc010odm.1_Splice_Site_p.R333_splice	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3							cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACTTTTCCAGGCTCAGCAGG	0.448000												
GJA4	2701	broad.mit.edu	37	1	35260778	35260778	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:35260778C>T	uc001bya.2	+	2	1052	c.964C>T	c.(964-966)CGT>TGT	p.R322C	GJA4_uc009vul.2_Missense_Mutation_p.R398C|GJA4_uc009vum.1_Missense_Mutation_p.R322C	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	322	Cytoplasmic (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCCCCAAGTCGTCCCAGCAG	0.592000												
RIMS3	9783	broad.mit.edu	37	1	41092239	41092239	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:41092239G>A	uc001cfu.1	-	8	1346	c.877C>T	c.(877-879)CGC>TGC	p.R293C	RIMS3_uc001cfv.1_Missense_Mutation_p.R293C	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	293					neurotransmitter transport	cell junction|synapse					0	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;1.47e-17)			TGGGACAGGCGCCTGGTGAGG	0.637000												
CC2D1B	200014	broad.mit.edu	37	1	52825375	52825375	+	Splice_Site	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:52825375A>G	uc001ctq.1	-	8	1080	c.942_splice	c.e8+1	p.K314_splice	CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Splice_Site_p.K5_splice	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B											ovary(2)	2						cagatgCCATACCTTCCCAAT	0.403000												
TMEM48	55706	broad.mit.edu	37	1	54298164	54298164	+	Silent	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:54298164T>C	uc001cvs.2	-	3	520	c.279A>G	c.(277-279)GCA>GCG	p.A93A	TMEM48_uc010onu.1_Silent_p.A93A|TMEM48_uc001cvt.2_5'UTR|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	93	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2						AAAACTCACCTGCATAGAACT	0.303000												
GFI1	2672	broad.mit.edu	37	1	92946613	92946613	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:92946613C>T	uc001dou.3	-	4	495	c.331G>A	c.(331-333)GAA>AAA	p.E111K	GFI1_uc001dov.3_Missense_Mutation_p.E111K|GFI1_uc001dow.3_Missense_Mutation_p.E111K	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	111					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)	1		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GGCTGGGCTTCGTCCAGCGAT	0.677000												
FNDC7	163479	broad.mit.edu	37	1	109271412	109271412	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:109271412C>T	uc001dvx.2	+	8	1528	c.1528C>T	c.(1528-1530)CGG>TGG	p.R510W	FNDC7_uc010ova.1_Missense_Mutation_p.R277W	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	511	Fibronectin type-III 6.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTGCACCATGCGGGGCTTGCC	0.577000												
CELSR2	1952	broad.mit.edu	37	1	109794328	109794328	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:109794328C>T	uc001dxa.3	+	1	1688	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	543	Cadherin 4.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTGGAATACCGCCTTGCTGG	0.557000												
RSBN1	54665	broad.mit.edu	37	1	114309057	114309057	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:114309057C>T	uc001edq.2	-	7	1990	c.1954G>A	c.(1954-1956)GAA>AAA	p.E652K	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	652						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTTAGCTTCATCTACCCAC	0.348000												
PDE4DIP	9659	broad.mit.edu	37	1	144906453	144906453	+	Silent	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:144906453T>G	uc001elw.3	-	18	2695	c.2404A>C	c.(2404-2406)AGG>CGG	p.R802R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.R868R|PDE4DIP_uc001emc.1_Silent_p.R802R|PDE4DIP_uc001emd.1_Silent_p.R802R|PDE4DIP_uc001emb.1_Silent_p.R965R|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Silent_p.R587R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	802	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTATGTTCCTGGTCAGAGAC	0.438000			T	PDGFRB	MPD							
RPRD2	23248	broad.mit.edu	37	1	150443610	150443610	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:150443610G>A	uc009wlr.2	+	11	2387	c.2186G>A	c.(2185-2187)CGG>CAG	p.R729Q	RPRD2_uc010pcc.1_Missense_Mutation_p.R703Q|RPRD2_uc001eup.3_Missense_Mutation_p.R703Q	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	729	Ser-rich.						protein binding			ovary(1)	1						CGGGATGAACGGAGTGGGACA	0.547000												
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:155161799T>G	uc010pft.1	-	2	400	c.334A>C	c.(334-336)ACC>CCC	p.T112P	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Missense_Mutation_p.T121P|MUC1_uc001fiw.1_Missense_Mutation_p.T112P			P15941	MUC1_HUMAN	SubName: Full=MUC1 isoform M13;	112	Extracellular (Potential).|3.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711000			T	IGH@	B-NHL							
CLK2	1196	broad.mit.edu	37	1	155234561	155234561	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:155234561C>A	uc001fjy.2	-	9	1228	c.938G>T	c.(937-939)CGA>CTA	p.R313L	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R312L|CLK2_uc001fjx.2_Missense_Mutation_p.R85L|CLK2_uc009wqm.2_Missense_Mutation_p.R313L	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	313	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGCTCATCTCGCTTCTAGGA	0.507000								Other_conserved_DNA_damage_response_genes				
OR10K2	391107	broad.mit.edu	37	1	158390237	158390237	+	Silent	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:158390237C>A	uc010pii.1	-	1	420	c.420G>T	c.(418-420)GTG>GTT	p.V140V		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GTCCCATACACACCCCATGTC	0.498000												
OR10X1	128367	broad.mit.edu	37	1	158549497	158549497	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:158549497T>G	uc010pin.1	-	1	193	c.193A>C	c.(193-195)ACT>CCT	p.T65P		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	65	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCCACCCAAGTTAGACCCATG	0.478000												
SPTA1	6708	broad.mit.edu	37	1	158637761	158637761	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:158637761T>G	uc001fst.1	-	15	2124	c.1925A>C	c.(1924-1926)AAA>ACA	p.K642T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	642	Spectrin 7.				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)					TTGGCCAGTTTTCTGTATGTT	0.473000												
DDR2	4921	broad.mit.edu	37	1	162741839	162741839	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:162741839C>T	uc001gcf.2	+	14	1995	c.1530C>T	c.(1528-1530)GTC>GTT	p.V510V	DDR2_uc001gcg.2_Silent_p.V510V	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	510	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TGAAGCCAGTCCAGCCCAGTG	0.577000												
QSOX1	5768	broad.mit.edu	37	1	180163458	180163458	+	Missense_Mutation	SNP	G	G	T	rs143337247	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:180163458G>T	uc001gnz.2	+	11	1474	c.1399G>T	c.(1399-1401)GTG>TTG	p.V467L	QSOX1_uc001gny.2_Missense_Mutation_p.V467L|QSOX1_uc001goa.2_Missense_Mutation_p.V467L|QSOX1_uc001goc.2_Missense_Mutation_p.V9L	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	467	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						CATGCACCGGGTGGGGAGTCC	0.627000												
LAMC2	3918	broad.mit.edu	37	1	183190066	183190066	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:183190066G>T	uc001gqa.2	+	5	924	c.610G>T	c.(610-612)GTC>TTC	p.V204F	LAMC2_uc001gpz.3_Missense_Mutation_p.V204F|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	204					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AGAATACAGTGTCCATAAGAT	0.448000												
ATP2B4	493	broad.mit.edu	37	1	203680140	203680140	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:203680140C>T	uc001gzw.2	+	12	2819	c.1935C>T	c.(1933-1935)TTC>TTT	p.F645F	ATP2B4_uc001gzv.2_Silent_p.F645F|ATP2B4_uc009xaq.2_Silent_p.F645F	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	645	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCGGGACTTCGATGACACAG	0.532000												
CENPF	1063	broad.mit.edu	37	1	214820722	214820722	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:214820722C>A	uc001hkm.2	+	13	7983	c.7809C>A	c.(7807-7809)GAC>GAA	p.D2603E		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2699	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAAAATGGACAAAATGTCCT	0.348000												
GJC2	57165	broad.mit.edu	37	1	228345589	228345589	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:228345589G>A	uc001hsk.2	+	2	305	c.130G>A	c.(130-132)GAG>AAG	p.E44K		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	44	Helical; (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				TGTGGGCGGCGAGGCCATCTA	0.647000												
TTC13	79573	broad.mit.edu	37	1	231047280	231047280	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:231047280A>T	uc001huf.3	-	20	2276	c.2245T>A	c.(2245-2247)TGC>AGC	p.C749S	TTC13_uc009xfi.2_Missense_Mutation_p.C696S|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.C695S|TTC13_uc009xfk.1_Missense_Mutation_p.C638S	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	749							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATTAAGTTGCAGACAGCATCA	0.289000												
NID1	4811	broad.mit.edu	37	1	236157005	236157005	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:236157005C>T	uc001hxo.2	-	13	2797	c.2695G>A	c.(2695-2697)GTG>ATG	p.V899M	NID1_uc009xgd.2_Missense_Mutation_p.V766M|NID1_uc009xgc.2_Translation_Start_Site	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	899	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCGCGATCCACGCACCAGCAG	0.692000												
CHRM3	1131	broad.mit.edu	37	1	240072345	240072345	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:240072345C>A	uc001hyp.2	+	5	2373	c.1594C>A	c.(1594-1596)CTG>ATG	p.L532M		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	532	Helical; Name=7; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGGCTACTGGCTGTGCTACAT	0.483000												
OR2T3	343173	broad.mit.edu	37	1	248637589	248637589	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:248637589G>C	uc001iel.1	+	1	938	c.938G>C	c.(937-939)AGA>ACA	p.R313T		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|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;0.0265)			ATGCAGTCAAGAATGAACCAA	0.483000												
KIAA1462	57608	broad.mit.edu	37	10	30318557	30318557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:30318557G>A	uc001iux.2	-	2	579	c.520C>T	c.(520-522)CGA>TGA	p.R174*	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.R36*|KIAA1462_uc009xle.1_Nonsense_Mutation_p.R174*	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	174										ovary(4)	4						CCTGACATTCGCAATTCTTCT	0.547000												
AGAP7	653268	broad.mit.edu	37	10	51472611	51472611	+	Silent	SNP	C	C	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:51472611C>G	uc001jio.2	-	4	495	c.369G>C	c.(367-369)TCG>TCC	p.S123S	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	123					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GGAATATTGTCGAACACAAGC	0.378000												
AGAP7	653268	broad.mit.edu	37	10	51472618	51472618	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:51472618A>G	uc001jio.2	-	4	488	c.362T>C	c.(361-363)TTG>TCG	p.L121S	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	121					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						TGTCGAACACAAGCTGTATTG	0.383000												
BICC1	80114	broad.mit.edu	37	10	60546751	60546751	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:60546751C>T	uc001jki.1	+	5	456	c.456C>T	c.(454-456)GGC>GGT	p.G152G		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	152	KH 1.				multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						GCAAAGGTGGCAACAATATTA	0.378000												
EIF4EBP2	1979	broad.mit.edu	37	10	72179853	72179853	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:72179853T>C	uc001jrb.2	+	2	626	c.329T>C	c.(328-330)GTT>GCT	p.V110A		NM_004096	NP_004087	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E	110					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0						AAACATGCAGTTGGTAAGAGA	0.408000												
PRF1	5551	broad.mit.edu	37	10	72360440	72360440	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:72360440G>T	uc009xqg.2	-	2	380	c.219C>A	c.(217-219)TGC>TGA	p.C73*	PRF1_uc001jrf.3_Nonsense_Mutation_p.C73*	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	73	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						CACAGAGGGTGCAGGTGCCGT	0.682000			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis			
ZCCHC24	219654	broad.mit.edu	37	10	81146114	81146114	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:81146114C>T	uc001kak.2	-	4	900	c.713G>A	c.(712-714)CGT>CAT	p.R238H	ZCCHC24_uc010qlr.1_Silent_p.P178P|ZCCHC24_uc009xrw.2_RNA	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	238							nucleic acid binding|zinc ion binding			breast(1)	1						CTGCACGCGACGGCAGTAGTA	0.697000												
ZFYVE27	118813	broad.mit.edu	37	10	99511150	99511150	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:99511150C>T	uc001koo.2	+	8	1007	c.807C>T	c.(805-807)GAC>GAT	p.D269D	ZFYVE27_uc001kon.2_Silent_p.D274D|ZFYVE27_uc001koq.2_Silent_p.D183D|ZFYVE27_uc010qpa.1_Silent_p.D151D|ZFYVE27_uc001kop.2_Silent_p.D269D|ZFYVE27_uc010qpb.1_Silent_p.D176D|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Silent_p.D237D|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Silent_p.D269D|ZFYVE27_uc001kom.1_Silent_p.D269D	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27 isoform	269	Extracellular (Potential).				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CTTCCCAGGACCTCACACCGG	0.582000												
FAM178A	55719	broad.mit.edu	37	10	102709894	102709894	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:102709894T>C	uc001krt.3	+	16	3724	c.3182T>C	c.(3181-3183)GTC>GCC	p.V1061A	FAM178A_uc001krs.2_Missense_Mutation_p.V1061A	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	1061											0						AAGAAAATGGTCTTGAAGAAA	0.373000												
MGEA5	10724	broad.mit.edu	37	10	103563707	103563707	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:103563707G>C	uc001ktv.2	-	7	1264	c.821C>G	c.(820-822)GCT>GGT	p.A274G	MGEA5_uc010qqe.1_Missense_Mutation_p.A274G|MGEA5_uc009xws.2_Missense_Mutation_p.A274G|MGEA5_uc001ktw.2_Missense_Mutation_p.A274G|MGEA5_uc009xwt.2_Intron	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	274					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GATTACTGGAGCTCTCTTAAT	0.398000												
PSD	5662	broad.mit.edu	37	10	104173948	104173948	+	Silent	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:104173948C>A	uc001kvg.1	-	5	1658	c.1131G>T	c.(1129-1131)GGG>GGT	p.G377G	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.G377G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	377					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCATCCGGCTCCCTGGCCTGC	0.587000												
GPR26	2849	broad.mit.edu	37	10	125426576	125426576	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:125426576T>C	uc001lhh.2	+	1	706	c.653T>C	c.(652-654)GTG>GCG	p.V218A		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	218	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GTGCTGCTGGTGGACCTGCAC	0.642000												
PPP2R2D	55844	broad.mit.edu	37	10	133754196	133754196	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:133754196C>T	uc001lks.2	+	3	619	c.376C>T	c.(376-378)CGG>TGG	p.R126W	PPP2R2D_uc001lkr.2_Translation_Start_Site|PPP2R2D_uc001lkt.2_Translation_Start_Site|PPP2R2D_uc009yay.2_Translation_Start_Site	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	159					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CACGGCGCTACGGGTACACGT	0.423000												
APBB1	322	broad.mit.edu	37	11	6432422	6432422	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:6432422G>A	uc001mdb.1	-	2	256	c.156C>T	c.(154-156)AGC>AGT	p.S52S	APBB1_uc001mdc.1_Silent_p.S52S|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	52					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCCATGGCGCTGCGCAGGT	0.697000												
EIF3F	8665	broad.mit.edu	37	11	8009011	8009011	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:8009011G>C	uc001mfw.2	+	1	145	c.112G>C	c.(112-114)GTT>CTT	p.V38L	EIF3F_uc010rbj.1_5'UTR	NM_003754	NP_003745	O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3,	38						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(1)	1				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		tgcggctccggttcccgctgc	0.343000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SBF2	81846	broad.mit.edu	37	11	9989983	9989983	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:9989983T>C	uc001mib.2	-	14	1643	c.1505A>G	c.(1504-1506)CAG>CGG	p.Q502R	SBF2_uc001mif.3_Missense_Mutation_p.Q258R|SBF2_uc001mih.3_Missense_Mutation_p.Q31R	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	502					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TATTAATTCCTGAACCCGGGC	0.448000												
DBX1	120237	broad.mit.edu	37	11	20177850	20177850	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:20177850C>T	uc001mpw.1	-	4	1059	c.1059G>A	c.(1057-1059)GCG>GCA	p.A353A		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	314					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGCTCGAGTGCGCGGGCGAGG	0.706000												
SLC17A6	57084	broad.mit.edu	37	11	22380965	22380965	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:22380965C>T	uc001mqk.2	+	4	878	c.465C>T	c.(463-465)TTC>TTT	p.F155F		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	155	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TCAGGGTTTTCGGAGCTGCCA	0.363000												
ALX4	60529	broad.mit.edu	37	11	44286723	44286723	+	Missense_Mutation	SNP	G	G	A	rs149897209	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:44286723G>A	uc001myb.2	-	4	1021	c.917C>T	c.(916-918)CCG>CTG	p.P306L		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	306					hair follicle development						0						GAGCCAGGACGGGTTCTGAAT	0.682000												
GYLTL1B	120071	broad.mit.edu	37	11	45949133	45949133	+	Silent	SNP	C	C	T	rs139156494	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:45949133C>T	uc001nbv.1	+	11	1704	c.1593C>T	c.(1591-1593)TAC>TAT	p.Y531Y	GYLTL1B_uc001nbw.1_Silent_p.Y500Y|GYLTL1B_uc001nbx.1_Silent_p.Y531Y|GYLTL1B_uc001nby.1_Silent_p.Y214Y|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	531	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		ATTCTCTCTACGACTACCTCA	0.597000												
ARHGAP1	392	broad.mit.edu	37	11	46701257	46701257	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:46701257C>T	uc001ndd.2	-	11	1037	c.968G>A	c.(967-969)CGG>CAG	p.R323Q		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	323	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		AGGAAGCTCCCGGAGGAAGGT	0.612000												
OR8K1	390157	broad.mit.edu	37	11	56113601	56113601	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:56113601G>A	uc010rjg.1	+	1	87	c.87G>A	c.(85-87)CTG>CTA	p.L29L		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	29	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					ACCCTGGGCTGCAGGCTCCAC	0.463000										HNSCC(65;0.19)		
OR5M10	390167	broad.mit.edu	37	11	56344314	56344314	+	Missense_Mutation	SNP	C	C	G	rs2852414		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:56344314C>G	uc001niz.1	-	1	884	c.884G>C	c.(883-885)AGA>ACA	p.R295T		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATTACATCTCTGTTCCGTAG	0.398000												
GAL3ST3	89792	broad.mit.edu	37	11	65810589	65810589	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:65810589G>A	uc001ogv.2	-	2	845	c.685C>T	c.(685-687)CGC>TGC	p.R229C	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R229C	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	229	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						TCCACCTGGCGGATGAGGCCC	0.662000												
DNAJB13	374407	broad.mit.edu	37	11	73679403	73679403	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:73679403T>C	uc001ouo.2	+	6	1371	c.620T>C	c.(619-621)ATC>ACC	p.I207T		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	207					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					CCCAACATCATCCCAGCAGAC	0.393000												
GRM5	2915	broad.mit.edu	37	11	88258490	88258490	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:88258490C>G	uc001pcq.2	-	8	2913	c.2713G>C	c.(2713-2715)GCA>CCA	p.A905P	GRM5_uc009yvm.2_Intron	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	905	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCATTGTTGCTCTCCCACCA	0.507000												
AKAP3	10566	broad.mit.edu	37	12	4737889	4737889	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:4737889C>T	uc001qnb.3	-	4	408	c.179G>A	c.(178-180)CGG>CAG	p.R60Q		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	60					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GGGTTTGAACCGAACATCTTG	0.502000												
ZNF705A	440077	broad.mit.edu	37	12	8328533	8328533	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:8328533A>G	uc001qud.1	+	4	385	c.313A>G	c.(313-315)ACA>GCA	p.T105A		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				Kidney(36;0.0877)		CACCAGTATGACAATGGTAAG	0.358000												
LRRK2	120892	broad.mit.edu	37	12	40629471	40629471	+	Silent	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:40629471T>C	uc001rmg.3	+	4	512	c.391T>C	c.(391-393)TTG>CTG	p.L131L		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	131					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGTGTAAACTTGTCAGTGAT	0.303000												
LRRK2	120892	broad.mit.edu	37	12	40761458	40761458	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:40761458G>T	uc001rmg.3	+	51	7596	c.7475G>T	c.(7474-7476)TGC>TTC	p.C2492F	LRRK2_uc009zjw.2_Missense_Mutation_p.C1330F|LRRK2_uc001rmi.2_3'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2492					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATACAATCTTGCTTGACCGTT	0.299000												
KCNH3	23416	broad.mit.edu	37	12	49948186	49948186	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:49948186T>C	uc001ruh.1	+	11	2245	c.1985T>C	c.(1984-1986)GTG>GCG	p.V662A	KCNH3_uc010smj.1_Missense_Mutation_p.V602A	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	662	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						AATGCCGACGTGAAGGGGCTG	0.652000												
KRT6B	3854	broad.mit.edu	37	12	52844237	52844237	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:52844237G>A	uc001sak.2	-	2	756	c.708C>T	c.(706-708)GAC>GAT	p.D236D		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	236	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAGCTCCGAGTCCAGACGAC	0.557000												
KRT79	338785	broad.mit.edu	37	12	53225307	53225307	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:53225307A>G	uc001sbb.2	-	2	614	c.581T>C	c.(580-582)CTC>CCC	p.L194P	KRT79_uc001sba.2_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	194	Rod.|Linker 1.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						GGCCTCAAAGAGGGGCTCCAG	0.607000												
MFSD5	84975	broad.mit.edu	37	12	53647497	53647497	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:53647497T>C	uc001sci.1	+	2	1069	c.878T>C	c.(877-879)CTG>CCG	p.L293P	MFSD5_uc001sch.1_Missense_Mutation_p.L400P	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	293	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3						GCAGCCAGCCTGCTTGGCTCT	0.572000												
ERBB3	2065	broad.mit.edu	37	12	56481648	56481648	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:56481648A>G	uc001sjh.2	+	6	876	c.683A>G	c.(682-684)CAT>CGT	p.H228R	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.H169R|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	228	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGTGCTGCCATGATGAGTGT	0.537000												
TMEM5	10329	broad.mit.edu	37	12	64202655	64202655	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:64202655C>A	uc001srq.1	+	6	1219	c.1115C>A	c.(1114-1116)CCT>CAT	p.P372H	TMEM5_uc001srr.1_Missense_Mutation_p.P269H|TMEM5_uc001srs.1_Missense_Mutation_p.P112H	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	372	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CACGGTGCTCCTCTGCAGTTA	0.448000												
TMTC2	160335	broad.mit.edu	37	12	83358805	83358805	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:83358805G>C	uc001szt.2	+	5	2033	c.1601G>C	c.(1600-1602)GGG>GCG	p.G534A	TMTC2_uc001szr.1_Missense_Mutation_p.G534A|TMTC2_uc001szs.1_Missense_Mutation_p.G534A|TMTC2_uc010suk.1_Missense_Mutation_p.G289A	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	534	TPR 3.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						TCATGCAGAGGGCTACTTCTC	0.348000												
PRDM4	11108	broad.mit.edu	37	12	108134917	108134917	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:108134917C>T	uc001tmp.2	-	10	2167	c.1730G>A	c.(1729-1731)AGC>AAC	p.S577N	PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	577					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						ATGGCTGCCGCTATGTCCCTG	0.488000												
SSH1	54434	broad.mit.edu	37	12	109182208	109182208	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:109182208G>T	uc001tnm.2	-	15	2793	c.2706C>A	c.(2704-2706)TTC>TTA	p.F902L	SSH1_uc001tnl.2_Missense_Mutation_p.F590L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	902	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						CCAGGCGGTAGAAGAAAGGAG	0.587000												
TMEM116	89894	broad.mit.edu	37	12	112374526	112374526	+	Silent	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:112374526G>T	uc001ttc.1	-	10	938	c.282C>A	c.(280-282)GGC>GGA	p.G94G	TMEM116_uc001ttd.1_Silent_p.G186G|TMEM116_uc001tte.1_Silent_p.G151G|TMEM116_uc001ttf.1_Silent_p.G94G|TMEM116_uc001ttg.1_Intron|TMEM116_uc001tth.1_Intron|TMEM116_uc001tti.1_Silent_p.G186G	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN	transmembrane protein 116	94	Helical; (Potential).					integral to membrane				ovary(1)	1						GTACAAAGCTGCCCAGGAAAA	0.483000												
TRAFD1	10906	broad.mit.edu	37	12	112587666	112587666	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:112587666A>T	uc001ttp.2	+	9	1356	c.1270A>T	c.(1270-1272)AGA>TGA	p.R424*	TRAFD1_uc001tto.2_Nonsense_Mutation_p.R424*|TRAFD1_uc010syj.1_RNA	NM_006700	NP_006691	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	424					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0						GAGGCGTGTCAGACACCAGGG	0.577000												
NOS1	4842	broad.mit.edu	37	12	117710313	117710313	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:117710313C>T	uc001twm.1	-	10	2402	c.1716G>A	c.(1714-1716)GTG>GTA	p.V572V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	572					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCATGTTGGACACGGCGGGGA	0.612000												
NOS1	4842	broad.mit.edu	37	12	117715775	117715775	+	Silent	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:117715775G>T	uc001twm.1	-	9	2339	c.1653C>A	c.(1651-1653)ATC>ATA	p.I551I		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	551					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGGGTGCCTGATGGGAACTT	0.607000												
GCN1L1	10985	broad.mit.edu	37	12	120599753	120599753	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr12:120599753A>G	uc001txo.2	-	21	2286	c.2273T>C	c.(2272-2274)GTG>GCG	p.V758A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	758					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCCGCGTCACCAGGCGCAG	0.582000												
CSNK1A1L	122011	broad.mit.edu	37	13	37678834	37678834	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr13:37678834T>C	uc001uwm.1	-	1	968	c.560A>G	c.(559-561)TAT>TGT	p.Y187C		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	187	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GATGCTGGCATATCGGACAGT	0.448000												
PCDH17	27253	broad.mit.edu	37	13	58209157	58209157	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr13:58209157C>A	uc001vhq.1	+	1	3369	c.2477C>A	c.(2476-2478)CCT>CAT	p.P826H	PCDH17_uc010aec.1_Missense_Mutation_p.P826H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	826	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGACTGTCCCTCAGGGGCAC	0.602000												
PCDH20	64881	broad.mit.edu	37	13	61988055	61988055	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr13:61988055G>A	uc001vid.3	-	2	541	c.177C>T	c.(175-177)CTC>CTT	p.L59L	PCDH20_uc010thj.1_Silent_p.L59L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	32					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTAACTCCCGAGGCAGCTGA	0.607000												
NALCN	259232	broad.mit.edu	37	13	101910814	101910814	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr13:101910814C>T	uc001vox.1	-	11	1435	c.1246G>A	c.(1246-1248)GAC>AAC	p.D416N	NALCN_uc001voy.2_Missense_Mutation_p.D131N|NALCN_uc001voz.2_Missense_Mutation_p.D416N|NALCN_uc001vpa.2_Missense_Mutation_p.D416N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	416	Extracellular (Potential).					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)					TAGAACTCGTCGTACTGCCTC	0.547000												
APEX1	328	broad.mit.edu	37	14	20923813	20923813	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:20923813G>A	uc001vxg.2	+	2	341	c.9G>A	c.(7-9)AAG>AAA	p.K3K	OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_Silent_p.K3K|APEX1_uc001vxi.2_Silent_p.K3K|APEX1_uc001vxj.2_Silent_p.K3K	NM_001641	NP_001632	P27695	APEX1_HUMAN	APEX nuclease 1	3	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			ovary(2)|breast(2)	4	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAATGCCGAAGCGTGGGAAAA	0.552000								Direct_reversal_of_damage|Other_BER_factors				
NYNRIN	57523	broad.mit.edu	37	14	24884516	24884516	+	Silent	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:24884516C>A	uc001wpf.3	+	9	3879	c.3561C>A	c.(3559-3561)GCC>GCA	p.A1187A		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1187					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						ACCCCATAGCCTATACCTCAA	0.637000												
FOXG1	2290	broad.mit.edu	37	14	29237317	29237317	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:29237317A>G	uc001wqe.2	+	1	1031	c.832A>G	c.(832-834)ACC>GCC	p.T278A		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	278					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCGCCGCTCCACCACCTCGCG	0.697000												
CTAGE5	4253	broad.mit.edu	37	14	39818141	39818141	+	Silent	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:39818141A>G	uc001wvg.3	+	23	2544	c.2208A>G	c.(2206-2208)CCA>CCG	p.P736P	CTAGE5_uc001wuz.3_Silent_p.P724P|CTAGE5_uc001wuy.3_Silent_p.P656P|CTAGE5_uc001wvb.3_Silent_p.P664P|CTAGE5_uc001wvc.3_Silent_p.P638P|CTAGE5_uc001wva.3_Silent_p.P707P|CTAGE5_uc001wvh.3_Silent_p.P693P|CTAGE5_uc001wvf.3_Silent_p.P661P|CTAGE5_uc001wvi.3_Silent_p.P741P|CTAGE5_uc010amz.2_Silent_p.P352P|CTAGE5_uc001wvj.3_Silent_p.P707P	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	736	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ATTATTTTCCACCAGGGGATT	0.443000												
NRXN3	9369	broad.mit.edu	37	14	79270092	79270092	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:79270092C>T	uc001xun.2	+	6	1546	c.1055C>T	c.(1054-1056)ACG>ATG	p.T352M	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.T486M	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	725	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTGGTGGCTACGACCTCCAGG	0.552000												
KIAA1409	57578	broad.mit.edu	37	14	94152946	94152946	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:94152946G>T	uc001ybv.1	+	42	6583	c.6500G>T	c.(6499-6501)AGG>ATG	p.R2167M	KIAA1409_uc001ybs.1_Missense_Mutation_p.R2145M	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2322						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GAGTGTGTGAGGCAGTACATC	0.517000												
EML1	2009	broad.mit.edu	37	14	100363543	100363543	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:100363543G>A	uc001ygs.2	+	7	808	c.739G>A	c.(739-741)GTC>ATC	p.V247I	EML1_uc010avt.1_Missense_Mutation_p.V234I|EML1_uc010tww.1_Missense_Mutation_p.V235I|EML1_uc001ygq.2_Missense_Mutation_p.V266I|EML1_uc001ygr.2_Missense_Mutation_p.V266I	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	247						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)				GGGAGAGACCGTCTACTTCAT	0.488000												
AHNAK2	113146	broad.mit.edu	37	14	105406981	105406981	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:105406981G>A	uc010axc.1	-	7	14927	c.14807C>T	c.(14806-14808)CCT>CTT	p.P4936L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P4836L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4936						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTTCTCCAGGGGCCACTAC	0.562000												
BMF	90427	broad.mit.edu	37	15	40398015	40398015	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:40398015T>A	uc001zkv.2	-	2	359	c.273A>T	c.(271-273)GAA>GAT	p.E91D	BMF_uc001zkt.2_Missense_Mutation_p.E91D|BMF_uc001zku.2_Missense_Mutation_p.E91D|BMF_uc001zkw.2_Missense_Mutation_p.E91D	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Bcl2 modifying factor isoform bmf-1	91					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			ovary(1)	1		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GTCGCTGGGGTTCCTCAGTCA	0.587000												
CILP	8483	broad.mit.edu	37	15	65489691	65489691	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:65489691C>T	uc002aon.2	-	9	3114	c.2933G>A	c.(2932-2934)CGG>CAG	p.R978Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	978					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CACTGTCTGCCGATGAGTGCC	0.562000												
MEGF11	84465	broad.mit.edu	37	15	66190400	66190400	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:66190400C>T	uc002apm.2	-	23	3148	c.3007G>A	c.(3007-3009)GGT>AGT	p.G1003S	MEGF11_uc002apl.2_Missense_Mutation_p.G928S	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	1003						basolateral plasma membrane|integral to membrane				pancreas(1)	1						GAGTTATGACCGCAACCTTCT	0.458000												
PARP6	56965	broad.mit.edu	37	15	72543197	72543197	+	Silent	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:72543197G>T	uc002auc.2	-	17	1866	c.1407C>A	c.(1405-1407)ACC>ACA	p.T469T	PARP6_uc002aua.2_Silent_p.T315T|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.T470T	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	469	PARP catalytic.						NAD+ ADP-ribosyltransferase activity				0						GGAAGGCAAAGGTGCTGCCAT	0.592000												
AKAP13	11214	broad.mit.edu	37	15	86225395	86225395	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:86225395G>A	uc002blv.1	+	15	5278	c.5108G>A	c.(5107-5109)CGG>CAG	p.R1703Q	AKAP13_uc002blt.1_Missense_Mutation_p.R1685Q|AKAP13_uc002blu.1_Missense_Mutation_p.R1707Q|AKAP13_uc010bnf.1_Missense_Mutation_p.R325Q|AKAP13_uc002blw.1_Missense_Mutation_p.R170Q|AKAP13_uc002blx.1_5'UTR|AKAP13_uc010bne.1_Missense_Mutation_p.R356Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1703					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CTAGATTCACGGCCCTTCCAC	0.338000												
VPS33B	26276	broad.mit.edu	37	15	91543197	91543197	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:91543197C>A	uc002bqp.1	-	21	1944	c.1590G>T	c.(1588-1590)GAG>GAT	p.E530D	VPS33B_uc002bqq.1_Missense_Mutation_p.E439D|VPS33B_uc010uqu.1_Missense_Mutation_p.E503D	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	530					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			ovary(2)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGCTTCGCCGCTCTAGCACCT	0.527000												
LRRK1	79705	broad.mit.edu	37	15	101569258	101569258	+	Silent	SNP	C	C	T	rs137936039	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr15:101569258C>T	uc002bwr.2	+	20	3103	c.2784C>T	c.(2782-2784)TCC>TCT	p.S928S	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	928					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTGGCTCTCCGAATGTCTGC	0.552000												
RAB11FIP3	9727	broad.mit.edu	37	16	539001	539001	+	Splice_Site	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:539001G>T	uc002chf.2	+	5	1604	c.1265_splice	c.e5+1	p.S422_splice	RAB11FIP3_uc010uuf.1_Splice_Site_p.S126_splice|RAB11FIP3_uc010uug.1_Splice_Site_p.S112_splice	NM_014700	NP_055515	O75154	RFIP3_HUMAN	rab11-family interacting protein 3 isoform 1						cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		Hepatocellular(16;0.0218)				TCACGCCCAGGTAATGACGCC	0.567000												
MSLNL	401827	broad.mit.edu	37	16	824912	824912	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:824912G>A	uc002cjz.1	-	7	1660	c.1660C>T	c.(1660-1662)CGG>TGG	p.R554W		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	203	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GGGCAGCGCCGCAGGTTCTCC	0.697000												
EME2	197342	broad.mit.edu	37	16	1825267	1825267	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:1825267G>A	uc002cmq.1	+	5	653	c.653G>A	c.(652-654)GGC>GAC	p.G218D	MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Intron	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						CCAAGCTCGGGCAGGGCAGGC	0.672000								Direct_reversal_of_damage|Homologous_recombination				
HS3ST6	64711	broad.mit.edu	37	16	1961699	1961699	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:1961699C>T	uc002cnf.2	-	2	828	c.828G>A	c.(826-828)CGG>CGA	p.R276R		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	276											0						GTGGGTGTGGCCGGCCCTTGG	0.677000												
ZNF598	90850	broad.mit.edu	37	16	2052336	2052336	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:2052336A>C	uc002cof.1	-	7	781	c.766T>G	c.(766-768)TTC>GTC	p.F256V	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	256						intracellular	zinc ion binding			lung(1)|breast(1)	2						TCGGTGCGGAAGGCGTGGGTG	0.637000												
CCNF	899	broad.mit.edu	37	16	2495531	2495531	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:2495531C>T	uc002cqd.1	+	10	1090	c.1002C>T	c.(1000-1002)ACC>ACT	p.T334T	CCNF_uc002cqe.1_Silent_p.T26T	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	334	Cyclin N-terminal.				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)				TGCACCTGACCGTGGAGTGTG	0.607000												
CORO7	79585	broad.mit.edu	37	16	4457673	4457673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:4457673G>A	uc002cwh.3	-	5	436	c.316C>T	c.(316-318)CGA>TGA	p.R106*	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Nonsense_Mutation_p.R106*|CORO7_uc002cwg.3_5'UTR|CORO7_uc010uxh.1_Nonsense_Mutation_p.R88*|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_5'UTR|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_5'UTR|CORO7_uc010btr.1_RNA	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	106	WD 1.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						CCTGGCAGTCGCCAGAGTTTT	0.652000												
CP110	9738	broad.mit.edu	37	16	19548520	19548520	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:19548520G>A	uc002dgl.3	+	4	1776	c.1529G>A	c.(1528-1530)AGC>AAC	p.S510N	CP110_uc002dgk.3_Missense_Mutation_p.S510N			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	510	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						CCATATGCCAGCAGTCAGTGT	0.453000												
SCNN1G	6340	broad.mit.edu	37	16	23200994	23200994	+	Splice_Site	SNP	T	T	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:23200994T>A	uc002dlm.1	+	3	757	c.618_splice	c.e3+2	p.L206_splice		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma						excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTCCAACTGGTAAGATTTCAC	0.517000												
SCNN1G	6340	broad.mit.edu	37	16	23205501	23205501	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:23205501G>A	uc002dlm.1	+	5	958	c.819G>A	c.(817-819)ACG>ACA	p.T273T		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	273	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGAATTTCACGCTTTTCCACC	0.488000												
IRX6	79190	broad.mit.edu	37	16	55360314	55360314	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:55360314G>A	uc002ehy.2	+	2	645	c.112G>A	c.(112-114)GCA>ACA	p.A38T	IRX6_uc002ehx.2_Missense_Mutation_p.A38T|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CTCAGATGTGGCATCAGGCTC	0.622000												
SLC6A2	6530	broad.mit.edu	37	16	55725948	55725948	+	Missense_Mutation	SNP	G	G	A	rs147833183		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:55725948G>A	uc002eif.2	+	6	1013	c.902G>A	c.(901-903)CGC>CAC	p.R301H	SLC6A2_uc010ccd.2_Missense_Mutation_p.R301H|SLC6A2_uc002eig.2_Missense_Mutation_p.R301H|SLC6A2_uc002eih.2_Missense_Mutation_p.R301H|SLC6A2_uc002eii.2_Missense_Mutation_p.R196H|SLC6A2_uc002eij.2_Intron	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	301					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GACTTCTACCGCTTGAAAGAG	0.542000												
CDH11	1009	broad.mit.edu	37	16	65032498	65032498	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:65032498A>T	uc002eoi.2	-	4	924	c.490T>A	c.(490-492)TAT>AAT	p.Y164N	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.Y164N|CDH11_uc010vin.1_Missense_Mutation_p.Y38N|CDH11_uc010vio.1_Missense_Mutation_p.Y164N	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	164	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGGCATGATAGGTCTCGTGC	0.592000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
KIAA0182	23199	broad.mit.edu	37	16	85691162	85691162	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:85691162G>A	uc002fix.2	+	8	1666	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	KIAA0182_uc002fiw.2_Missense_Mutation_p.R427Q|KIAA0182_uc002fiy.2_Missense_Mutation_p.R458Q	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	531							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						GATATGGGCCGGCCCCCGGTG	0.682000												
ANKRD11	29123	broad.mit.edu	37	16	89350272	89350272	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:89350272C>T	uc002fmx.1	-	9	3139	c.2678G>A	c.(2677-2679)CGG>CAG	p.R893Q	ANKRD11_uc002fmy.1_Missense_Mutation_p.R893Q|ANKRD11_uc002fnc.1_Missense_Mutation_p.R893Q|ANKRD11_uc002fnb.1_Missense_Mutation_p.R850Q	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	893	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCCCGGGCCCGGCTGTCCCG	0.547000												
GAS8	2622	broad.mit.edu	37	16	90094048	90094048	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:90094048C>T	uc002fqi.1	+	2	130	c.8C>T	c.(7-9)CCG>CTG	p.P3L	GAS8_uc010vps.1_5'UTR|GAS8_uc002fqh.2_5'UTR|GAS8_uc010vpt.1_Missense_Mutation_p.P3L|GAS8_uc010vpu.1_5'UTR|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_5'UTR|GAS8_uc010vpw.1_5'UTR|GAS8_uc002fqj.1_5'UTR	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	3	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCAAAGGCACCGAAAAAGAAA	0.527000												
GAS8	2622	broad.mit.edu	37	16	90106768	90106768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:90106768C>T	uc002fqi.1	+	9	1194	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	GAS8_uc010vps.1_Nonsense_Mutation_p.Q333*|GAS8_uc002fqh.2_Nonsense_Mutation_p.Q275*|GAS8_uc010vpv.1_Nonsense_Mutation_p.Q329*|GAS8_uc010cjc.1_Nonsense_Mutation_p.Q275*|GAS8_uc010vpw.1_Nonsense_Mutation_p.Q275*|GAS8_uc002fqj.1_Nonsense_Mutation_p.Q166*|LOC100130015_uc002fql.2_3'UTR|uc002fqm.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	358	Potential.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGAGGTGCAGCAGAAGACAGG	0.622000												
DHRS7C	201140	broad.mit.edu	37	17	9674955	9674955	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:9674955C>T	uc010vvb.1	-	6	789	c.789G>A	c.(787-789)ATG>ATA	p.M263I	DHRS7C_uc010cof.2_Missense_Mutation_p.M262I	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	263						extracellular region	binding|oxidoreductase activity				0						GCACGGTGCGCATCACCTCCT	0.612000												
NR1D1	9572	broad.mit.edu	37	17	38252140	38252140	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:38252140A>C	uc002htz.1	-	5	1431	c.805T>G	c.(805-807)TTT>GTT	p.F269V	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	269					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					TGTTGTGGAAACTGGGAGAAG	0.667000												
KRT35	3886	broad.mit.edu	37	17	39633826	39633826	+	Silent	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:39633826G>C	uc002hws.2	-	6	1207	c.1164C>G	c.(1162-1164)GCC>GCG	p.A388A		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	388	Rod.|Coil 2.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				ACTCCAGCCGGGCCCGGACGT	0.602000												
KRT36	8689	broad.mit.edu	37	17	39643639	39643639	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:39643639G>A	uc002hwt.2	-	5	951	c.951C>T	c.(949-951)AAC>AAT	p.N317N		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	317	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				TCTCTAGCGCGTTGACCGTAC	0.627000												
KRT17	3872	broad.mit.edu	37	17	39776787	39776787	+	Splice_Site	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:39776787C>T	uc002hxh.2	-	7	1325	c.1204_splice	c.e7+1	p.P402_splice	JUP_uc010wfs.1_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17						epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				CAGATACTTACGTTCTTTCTT	0.572000									Steatocystoma_Multiplex			
COASY	80347	broad.mit.edu	37	17	40714969	40714970	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:40714969_40714970CG>TT	uc002hzz.2	+	2	486_487	c.329_330CG>TT	c.(328-330)CCG>CTT	p.P110L	COASY_uc010cyj.2_Missense_Mutation_p.P139L|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Missense_Mutation_p.P110L|COASY_uc002iac.2_Missense_Mutation_p.P110L|COASY_uc002iae.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	110					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTCGCCCACCCGCCAGAAGTCG	0.554000												
WNK4	65266	broad.mit.edu	37	17	40939912	40939912	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:40939912C>A	uc002ibj.2	+	8	1879	c.1858C>A	c.(1858-1860)CCC>ACC	p.P620T	WNK4_uc010wgx.1_Missense_Mutation_p.P284T|WNK4_uc002ibk.1_Missense_Mutation_p.P392T|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	620					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCTCTGCCTGCCCTCGGTGAG	0.627000												
WNK4	65266	broad.mit.edu	37	17	40946850	40946850	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:40946850C>T	uc002ibj.2	+	14	2432	c.2411C>T	c.(2410-2412)TCA>TTA	p.S804L	WNK4_uc010wgx.1_Missense_Mutation_p.S468L|WNK4_uc002ibk.1_Missense_Mutation_p.S576L	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	804					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCACCTCCTCATCTTCTCCT	0.567000												
AARSD1	80755	broad.mit.edu	37	17	41116247	41116247	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:41116247G>C	uc002icc.2	-	2	50	c.47C>G	c.(46-48)ACC>AGC	p.T16S	AARSD1_uc002icd.2_Missense_Mutation_p.T129S|AARSD1_uc002ice.2_Missense_Mutation_p.T99S|AARSD1_uc002icf.2_Missense_Mutation_p.T190S|AARSD1_uc010whg.1_Missense_Mutation_p.T190S|AARSD1_uc010cyu.1_Missense_Mutation_p.T16S	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	16					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GACCACGGTGGTGGTGAACTG	0.468000												
IMP5	162540	broad.mit.edu	37	17	43922821	43922821	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:43922821C>T	uc010wka.1	+	1	549	c.549C>T	c.(547-549)ATC>ATT	p.I183I	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	183	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		AGCCCATCATCGACTACAACA	0.637000												
MAPT	4137	broad.mit.edu	37	17	44101420	44101420	+	Silent	SNP	G	G	A	rs116567476	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:44101420G>A	uc002ijr.3	+	14	2480	c.2160G>A	c.(2158-2160)ACG>ACA	p.T720T	MAPT_uc010dau.2_Silent_p.T738T|MAPT_uc002ijs.3_Silent_p.T403T|MAPT_uc002ijx.3_Silent_p.T374T|MAPT_uc002ijt.3_Silent_p.T345T|MAPT_uc002iju.3_Silent_p.T314T|MAPT_uc002ijv.3_Silent_p.T321T	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	720					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CTGGGGACACGTCTCCACGGC	0.607000												
CD79B	974	broad.mit.edu	37	17	62007664	62007664	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:62007664A>G	uc002jdq.1	-	3	283	c.200T>C	c.(199-201)ATG>ACG	p.M67T	CD79B_uc002jdo.1_Missense_Mutation_p.M41T|CD79B_uc002jdp.1_Missense_Mutation_p.M68T|CD79B_uc002jdr.1_Intron	NM_000626	NP_000617	P40259	CD79B_HUMAN	CD79B antigen isoform 1 precursor	67	Extracellular (Potential).|Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity				0						GGCGCTGTTCATGTAGCAGTG	0.582000			Mis|O		DLBCL							
MAP2K6	5608	broad.mit.edu	37	17	67519770	67519770	+	Silent	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:67519770A>G	uc002jij.2	+	8	939	c.651A>G	c.(649-651)AAA>AAG	p.K217K		NM_002758	NP_002749	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	217	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|pancreas(1)	5	Breast(10;6.05e-10)					CAGGTTGCAAACCATACATGG	0.453000												
AANAT	15	broad.mit.edu	37	17	74464954	74464954	+	Silent	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:74464954G>T	uc002jro.2	+	2	360	c.126G>T	c.(124-126)CCG>CCT	p.P42P	AANAT_uc010wte.1_RNA	NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	42	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0						GCCTCACCCCGGAGGACGCTG	0.647000												
TBC1D16	125058	broad.mit.edu	37	17	77926603	77926603	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:77926603G>A	uc002jxj.2	-	4	910	c.794C>T	c.(793-795)TCC>TTC	p.S265F	TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	265	Ser-rich.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCCGGCGTCGGAGCTGGACGG	0.672000												
DCC	1630	broad.mit.edu	37	18	50994306	50994306	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr18:50994306A>G	uc002lfe.1	+	25	4249	c.3662A>G	c.(3661-3663)GAG>GGG	p.E1221G	DCC_uc010dpf.1_Missense_Mutation_p.E856G	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1221	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCACTCTGGAGAGGTCGCTG	0.522000												
MKNK2	2872	broad.mit.edu	37	19	2046617	2046617	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:2046617C>T	uc002lus.2	-	3	370	c.125G>A	c.(124-126)TGC>TAC	p.C42Y	MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Missense_Mutation_p.C42Y	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	42					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGCTGAGCACTGCAGGCC	0.706000												
THOP1	7064	broad.mit.edu	37	19	2807486	2807486	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:2807486G>A	uc002lwj.2	+	8	1088	c.933G>A	c.(931-933)GCG>GCA	p.A311A	THOP1_uc010xgz.1_Silent_p.A190A|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	311					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				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)		AGGAGCGTGCGGTGATTCTGG	0.682000												
ZNF560	147741	broad.mit.edu	37	19	9578389	9578389	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:9578389C>G	uc002mlp.1	-	10	1444	c.1234G>C	c.(1234-1236)GCC>CCC	p.A412P	ZNF560_uc010dwr.1_Missense_Mutation_p.A306P	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	412	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						GTACCAAAGGCTTTACCACAT	0.448000												
RYR1	6261	broad.mit.edu	37	19	39008073	39008073	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:39008073G>A	uc002oit.2	+	66	9890	c.9760G>A	c.(9760-9762)GGG>AGG	p.G3254R	RYR1_uc002oiu.2_Missense_Mutation_p.G3254R|RYR1_uc002oiv.1_Missense_Mutation_p.G174R|RYR1_uc010xuf.1_Missense_Mutation_p.G174R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3254					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)	GGCAGACATTGGGGGGCTGGC	0.652000												
DLL3	10683	broad.mit.edu	37	19	39998199	39998199	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:39998199C>T	uc002olx.2	+	7	1672	c.1614C>T	c.(1612-1614)CAC>CAT	p.H538H	DLL3_uc002olw.2_Silent_p.H538H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	538	Cytoplasmic (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGTCAGTCCACGCACTCCCGG	0.692000												
CCDC8	83987	broad.mit.edu	37	19	46915929	46915929	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:46915929C>T	uc002pep.2	-	1	991	c.139G>A	c.(139-141)GAA>AAA	p.E47K		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	47						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		cggccctcttcttccaggaac	0.169000												
ZNF615	284370	broad.mit.edu	37	19	52496650	52496650	+	Missense_Mutation	SNP	C	C	T	rs147205148		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:52496650C>T	uc002pye.1	-	6	1971	c.1679G>A	c.(1678-1680)CGC>CAC	p.R560H	ZNF615_uc002pyf.1_Missense_Mutation_p.R571H|ZNF615_uc002pyg.1_Missense_Mutation_p.R452H|ZNF615_uc002pyh.1_Missense_Mutation_p.R571H|ZNF615_uc010epi.1_Missense_Mutation_p.R567H|ZNF615_uc010ydg.1_Missense_Mutation_p.R565H	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	560	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTGCGCCGATGTAC	0.448000												
AURKC	6795	broad.mit.edu	37	19	57743527	57743527	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:57743527G>A	uc002qoe.2	+	3	420	c.231G>A	c.(229-231)TCG>TCA	p.S77S	AURKC_uc002qoc.2_Silent_p.S58S|AURKC_uc002qod.2_Silent_p.S43S|AURKC_uc010etv.2_Silent_p.S74S	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	77	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TCTTCAAGTCGCAGATAGAGA	0.517000												
GREB1	9687	broad.mit.edu	37	2	11770190	11770190	+	Silent	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:11770190T>C	uc002rbk.1	+	26	4866	c.4566T>C	c.(4564-4566)CCT>CCC	p.P1522P	GREB1_uc002rbp.1_Silent_p.P520P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1522						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCAGCCAACCTGGAGGCCAGC	0.552000												
NTSR2	23620	broad.mit.edu	37	2	11802131	11802131	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:11802131C>T	uc002rbq.3	-	2	934	c.860G>A	c.(859-861)CGC>CAC	p.R287H		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	287	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCGGATCCGGCGCACGTCTTT	0.488000												
TRIB2	28951	broad.mit.edu	37	2	12880542	12880542	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:12880542C>T	uc002rbv.3	+	3	2090	c.654C>T	c.(652-654)TAC>TAT	p.Y218Y	TRIB2_uc010yjp.1_Silent_p.Y82Y	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	218	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCCGGCTTACGTAAGCCCAG	0.582000												
NT5C1B	93034	broad.mit.edu	37	2	18757571	18757571	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:18757571C>T	uc002rcz.2	-	9	1492	c.1388G>A	c.(1387-1389)CGT>CAT	p.R463H	NT5C1B_uc002rcy.2_Missense_Mutation_p.R463H|NT5C1B_uc010exr.2_Missense_Mutation_p.R405H|NT5C1B_uc010yju.1_Missense_Mutation_p.R403H|NT5C1B_uc002rda.2_Missense_Mutation_p.R403H|NT5C1B_uc010yjv.1_Missense_Mutation_p.R480H|NT5C1B_uc010yjw.1_Missense_Mutation_p.R446H|NT5C1B_uc010exs.2_Missense_Mutation_p.R465H	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	463					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAGGCTACACGGAGCTGAGT	0.443000												
APOB	338	broad.mit.edu	37	2	21250815	21250815	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:21250815G>T	uc002red.2	-	14	2080	c.1952C>A	c.(1951-1953)GCC>GAC	p.A651D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	651	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGGCTGAGGCTGGGTCAAG	0.398000												
SIX3	6496	broad.mit.edu	37	2	45171770	45171770	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:45171770G>A	uc002run.1	+	2	1077	c.870G>A	c.(868-870)ACG>ACA	p.T290T		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	290					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCTGCCCCACGCACGGCTCGG	0.716000												
ALMS1	7840	broad.mit.edu	37	2	73677634	73677634	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:73677634C>T	uc002sje.1	+	10	4094	c.3983C>T	c.(3982-3984)CCA>CTA	p.P1328L	ALMS1_uc002sjf.1_Missense_Mutation_p.P1284L|ALMS1_uc002sjg.2_Missense_Mutation_p.P714L|ALMS1_uc002sjh.1_Missense_Mutation_p.P714L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1326	17.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ACTGTGATACCAATTTTACCC	0.443000												
SNRNP200	23020	broad.mit.edu	37	2	96953698	96953698	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:96953698G>A	uc002svu.2	-	25	3354	c.3268C>T	c.(3268-3270)CGG>TGG	p.R1090W	SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.R162W	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1090	SEC63 1.		R -> L (in RP33).			catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CGCATCAACCGGCCAGCCGAC	0.507000												
CNTNAP5	129684	broad.mit.edu	37	2	125262120	125262120	+	Silent	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:125262120T>C	uc002tno.2	+	8	1675	c.1311T>C	c.(1309-1311)GCT>GCC	p.A437A	CNTNAP5_uc010flu.2_Silent_p.A438A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	437	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AACGCGTAGCTGAAATCCTCA	0.493000												
UGGT1	56886	broad.mit.edu	37	2	128932357	128932357	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:128932357A>C	uc002tps.2	+	31	3642	c.3464A>C	c.(3463-3465)CAG>CCG	p.Q1155P	UGGT1_uc002tpr.2_Missense_Mutation_p.Q1131P	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1155					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						GGCTACTTTCAGCTGAAAGCC	0.393000												
LRP1B	53353	broad.mit.edu	37	2	141027915	141027915	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:141027915G>T	uc002tvj.1	-	86	14115	c.13143C>A	c.(13141-13143)AAC>AAA	p.N4381K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4381	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTAGTGCAGCTGCAACAAC	0.398000										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141356374	141356374	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:141356374T>G	uc002tvj.1	-	43	7992	c.7020A>C	c.(7018-7020)CAA>CAC	p.Q2340H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2340	Extracellular (Potential).|LDL-receptor class B 25.				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)		TACTTGGATGTTGTTCATTCC	0.338000										TSP Lung(27;0.18)		
GALNT13	114805	broad.mit.edu	37	2	155115555	155115555	+	Silent	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:155115555C>A	uc002tyr.3	+	8	1446	c.879C>A	c.(877-879)GGC>GGA	p.G293G	GALNT13_uc002tyt.3_Silent_p.G293G|GALNT13_uc010foc.1_Silent_p.G112G|GALNT13_uc010fod.2_Silent_p.G46G	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	293	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TGGCTGGTGGCCTATTTTCTA	0.358000												
SCN3A	6328	broad.mit.edu	37	2	166010963	166010963	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:166010963T>C	uc002ucx.2	-	11	1871	c.1379A>G	c.(1378-1380)CAG>CGG	p.Q460R	SCN3A_uc002ucy.2_Missense_Mutation_p.Q460R|SCN3A_uc002ucz.2_Missense_Mutation_p.Q460R|SCN3A_uc002uda.1_Missense_Mutation_p.Q329R|SCN3A_uc002udb.1_Missense_Mutation_p.Q329R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	460						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	ACTCAGTACCTGAGCTTCTTC	0.368000												
SCN1A	6323	broad.mit.edu	37	2	166848165	166848165	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:166848165G>A	uc010zcz.1	-	26	5605	c.5587C>T	c.(5587-5589)CGG>TGG	p.R1863W		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1874						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTAGAACCCGCTTTGTAAAA	0.473000												
SCN9A	6335	broad.mit.edu	37	2	167089905	167089905	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:167089905C>T	uc010fpl.2	-	21	4177	c.3836G>A	c.(3835-3837)CGG>CAG	p.R1279Q	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1290	Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).|III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTCAGTGTCCGAAGGGATTT	0.343000												
FASTKD1	79675	broad.mit.edu	37	2	170411638	170411638	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:170411638G>A	uc002uev.3	-	7	1598	c.1210C>T	c.(1210-1212)CTT>TTT	p.L404F	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.L390F	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	404					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						TCTTACCTAAGCAGTAATTCT	0.318000												
MAP1D	254042	broad.mit.edu	37	2	172945099	172945099	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:172945099G>A	uc002uhk.2	+	10	1046	c.973G>A	c.(973-975)GCG>ACG	p.A325T	MAP1D_uc010zdw.1_Missense_Mutation_p.A207T	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	325					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTCGAGGGGCGCGCAGATCCT	0.602000												
AGPS	8540	broad.mit.edu	37	2	178386012	178386012	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:178386012C>T	uc002ull.2	+	18	1760	c.1713C>T	c.(1711-1713)TAC>TAT	p.Y571Y	AGPS_uc010zfb.1_Silent_p.Y481Y	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	571					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CGCAGACTTACGATGCAGGTG	0.398000												
TTN	7273	broad.mit.edu	37	2	179430415	179430415	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:179430415T>C	uc010zfg.1	-	275	72964	c.72740A>G	c.(72739-72741)TAC>TGC	p.Y24247C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y17942C|TTN_uc010zfi.1_Missense_Mutation_p.Y17875C|TTN_uc010zfj.1_Missense_Mutation_p.Y17750C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25174							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)			TTCAACAACGTACCCCAGGAC	0.473000												
ZNF385B	151126	broad.mit.edu	37	2	180634389	180634389	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:180634389G>T	uc002unn.3	-	3	698	c.94C>A	c.(94-96)CTT>ATT	p.L32I		NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	32						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AAGGAGAAAAGAATTTTCTTT	0.473000												
MARCH4	57574	broad.mit.edu	37	2	217234856	217234856	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:217234856C>T	uc002vgb.2	-	1	1895	c.128G>A	c.(127-129)CGC>CAC	p.R43H		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	43						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGAGCATGCGGCAGCGGCA	0.652000												
CCDC108	255101	broad.mit.edu	37	2	219894339	219894339	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:219894339A>C	uc002vjl.1	-	11	1520	c.1436T>G	c.(1435-1437)CTT>CGT	p.L479R	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.L468R|CCDC108_uc010zkq.1_Missense_Mutation_p.L414R	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	479						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGCTCCCCAAGGTTGACCCA	0.557000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EPHA4	2043	broad.mit.edu	37	2	222301249	222301249	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:222301249T>A	uc002vmq.2	-	13	2258	c.2216A>T	c.(2215-2217)GAT>GTT	p.D739V	EPHA4_uc002vmr.2_Missense_Mutation_p.D739V|EPHA4_uc010zlm.1_Missense_Mutation_p.D680V|EPHA4_uc010zln.1_Missense_Mutation_p.D739V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	739	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATAGCTCATATCAGATAAATA	0.478000												
COL4A3	1285	broad.mit.edu	37	2	228173944	228173944	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:228173944G>A	uc002vom.1	+	50	4827	c.4665G>A	c.(4663-4665)GCG>GCA	p.A1555A	COL4A3_uc002von.1_Silent_p.A1555A|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1555	Required for the anti-angiogenic activity of tumstatin.|Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGTCCTGCGATCGCCATAG	0.468000												
SPHKAP	80309	broad.mit.edu	37	2	228860405	228860405	+	Missense_Mutation	SNP	C	C	G	rs141675542		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:228860405C>G	uc002vpq.2	-	8	4501	c.4454G>C	c.(4453-4455)AGC>ACC	p.S1485T	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1485T|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1485						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTATCAAGGCTGTCACTGTA	0.537000												
SP110	3431	broad.mit.edu	37	2	231077646	231077646	+	Missense_Mutation	SNP	G	G	A	rs114017623	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:231077646G>A	uc002vqh.3	-	4	653	c.413C>T	c.(412-414)GCG>GTG	p.A138V	SP110_uc002vqg.3_Missense_Mutation_p.A138V|SP110_uc002vqi.3_Missense_Mutation_p.A138V|SP110_uc010fxk.2_Missense_Mutation_p.A138V	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	138					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGGGGGCAGCGCCAGTGGGGT	0.572000												
SIGLEC1	6614	broad.mit.edu	37	20	3670819	3670819	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:3670819C>T	uc002wja.2	-	18	4684	c.4684G>A	c.(4684-4686)GCC>ACC	p.A1562T	SIGLEC1_uc002wjb.1_Missense_Mutation_p.A201T|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A1562T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1562	Ig-like C2-type 16.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GTCAGGCTGGCGAGCGGCTCG	0.657000												
LRRN4	164312	broad.mit.edu	37	20	6033406	6033406	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:6033406G>A	uc002wmo.2	-	2	264	c.40C>T	c.(40-42)CGC>TGC	p.R14C	LRRN4_uc002wmp.2_Missense_Mutation_p.R14C	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	14						integral to membrane				skin(3)	3						CAGCTGGGGCGCAGCACCGTC	0.672000												
PLCB1	23236	broad.mit.edu	37	20	8665706	8665706	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:8665706G>A	uc002wnb.2	+	10	993	c.990G>A	c.(988-990)TCG>TCA	p.S330S	PLCB1_uc010zrb.1_Silent_p.S229S|PLCB1_uc002wna.2_Silent_p.S330S|PLCB1_uc002wnc.1_Silent_p.S229S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	330	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TTAATTCCTCGCACAACACCT	0.418000												
ISM1	140862	broad.mit.edu	37	20	13279607	13279607	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:13279607G>A	uc010gce.1	+	6	902	c.896G>A	c.(895-897)CGC>CAC	p.R299H	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	299	AMOP.					extracellular region					0						AGCTGTGAGCGCTGGATGAGC	0.557000												
KIF3B	9371	broad.mit.edu	37	20	30919058	30919058	+	Missense_Mutation	SNP	C	C	T	rs141907829	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:30919058C>T	uc002wxq.2	+	9	2347	c.2180C>T	c.(2179-2181)TCC>TTC	p.S727F	KIF3B_uc010ztw.1_Missense_Mutation_p.S665F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	727	Poly-Ser.|Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGATCCTCCTCCTCTTCCTCA	0.498000												
C20orf117	140710	broad.mit.edu	37	20	35467810	35467810	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:35467810T>C	uc002xgd.1	-	2	335	c.8A>G	c.(7-9)GAG>GGG	p.E3G		NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	3											0		Myeloproliferative disorder(115;0.00874)				GTCCCGCATCTCCAGCATCTC	0.627000												
SLC32A1	140679	broad.mit.edu	37	20	37356767	37356767	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:37356767G>A	uc002xjc.2	+	2	1326	c.1063G>A	c.(1063-1065)GCG>ACG	p.A355T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	355	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GGGCCTCTTCGCGCTCGTCGC	0.622000												
MMP9	4318	broad.mit.edu	37	20	44640827	44640827	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:44640827C>A	uc002xqz.2	+	7	1068	c.1049C>A	c.(1048-1050)CCC>CAC	p.P350H		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	350	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCGTCTTCCCCTTCACTTTC	0.607000												
ZNFX1	57169	broad.mit.edu	37	20	47866105	47866105	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:47866105G>A	uc002xui.2	-	14	3703	c.3456C>T	c.(3454-3456)TCC>TCT	p.S1152S		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1152							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGTGATCTGGGAAGGCAGGT	0.527000												
PPP1R3D	5509	broad.mit.edu	37	20	58514447	58514447	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:58514447C>T	uc002ybb.2	-	1	906	c.540G>A	c.(538-540)GAG>GAA	p.E180E	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	180	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			AAGTGACACGCTCCAGGCACA	0.662000												
NTSR1	4923	broad.mit.edu	37	20	61341129	61341129	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr20:61341129C>T	uc002ydf.2	+	1	941	c.570C>T	c.(568-570)AGC>AGT	p.S190S		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	190	Helical; Name=4; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGTTCATCAGCGCCATCTGGC	0.662000												
NCAM2	4685	broad.mit.edu	37	21	22782720	22782720	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr21:22782720T>A	uc002yld.1	+	10	1571	c.1322T>A	c.(1321-1323)TTA>TAA	p.L441*	NCAM2_uc011acb.1_Nonsense_Mutation_p.L299*	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	441	Ig-like C2-type 5.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAATTAGTCTTACCTGCTAAA	0.313000												
SEC14L3	266629	broad.mit.edu	37	22	30857304	30857304	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:30857304G>A	uc003ahy.2	-	11	1163	c.1074C>T	c.(1072-1074)GCC>GCT	p.A358A	SEC14L3_uc003ahz.2_Silent_p.A281A|SEC14L3_uc003aia.2_Silent_p.A299A|SEC14L3_uc003aib.2_Silent_p.A299A	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	358	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	TACAGACGCCGGCCTCTGAGC	0.607000												
TST	7263	broad.mit.edu	37	22	37407215	37407215	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:37407215G>A	uc003aqg.2	-	2	1447	c.747C>T	c.(745-747)CGC>CGT	p.R249R	TST_uc003aqh.2_Silent_p.R249R	NM_003312	NP_003303	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase	249	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity				0						TGACTCCCTTGCGGCACGTGG	0.627000												
TMPRSS6	164656	broad.mit.edu	37	22	37499393	37499393	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:37499393G>A	uc003aqs.1	-	2	206	c.92C>T	c.(91-93)GCG>GTG	p.A31V	TMPRSS6_uc003aqt.1_Missense_Mutation_p.A22V|TMPRSS6_uc003aqu.2_Missense_Mutation_p.A22V	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	31	Cytoplasmic (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CTCCGGCTCCGCTTCCTCGCC	0.662000												
ELFN2	114794	broad.mit.edu	37	22	37769679	37769679	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:37769679C>T	uc003asq.3	-	3	2682	c.1896G>A	c.(1894-1896)TCG>TCA	p.S632S		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	632	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					AACCACTGGACGACACGCTGC	0.642000												
SOX10	6663	broad.mit.edu	37	22	38373971	38373971	+	Silent	SNP	G	G	A	rs143057951		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:38373971G>A	uc003aun.1	-	3	878	c.600C>T	c.(598-600)ACC>ACT	p.T200T	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Silent_p.T200T	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	200						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					GGATGGCGGCGGTCCCACCTT	0.701000												
ZBED4	9889	broad.mit.edu	37	22	50280130	50280130	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:50280130C>T	uc003bix.2	+	2	3290	c.2820C>T	c.(2818-2820)TTC>TTT	p.F940F		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	940						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TAAAGCCCTTCGAGGCTGCGA	0.592000												
MLC1	23209	broad.mit.edu	37	22	50506890	50506890	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr22:50506890A>T	uc003bjg.1	-	10	1139	c.866T>A	c.(865-867)ATG>AAG	p.M289K	MLC1_uc011arl.1_Missense_Mutation_p.M237K|MLC1_uc003bjh.1_Missense_Mutation_p.M289K|MLC1_uc011arm.1_Missense_Mutation_p.M259K|MLC1_uc011arn.1_Missense_Mutation_p.M210K|MLC1_uc011aro.1_Missense_Mutation_p.M255K	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	289						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		ATCCTTAAACATCTCCACGAT	0.512000												
NCKIPSD	51517	broad.mit.edu	37	3	48718855	48718855	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:48718855C>T	uc003cun.2	-	5	1051	c.957G>A	c.(955-957)CTG>CTA	p.L319L	NCKIPSD_uc003cum.2_Silent_p.L312L|NCKIPSD_uc010hkh.1_Silent_p.L319L	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	319					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCTCCGCACCAGCTCCATCA	0.637000												
CISH	1154	broad.mit.edu	37	3	50645297	50645297	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:50645297C>T	uc003dax.2	-	3	699	c.518G>A	c.(517-519)AGC>AAC	p.S173N	CISH_uc010hlq.2_Missense_Mutation_p.S190N	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN	cytokine-inducible SH2-containing protein	173					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGGGCTGTCGCTTCGGGTATC	0.627000												
PRICKLE2	166336	broad.mit.edu	37	3	64139012	64139012	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:64139012C>T	uc003dmf.2	-	6	1219	c.633G>A	c.(631-633)GAG>GAA	p.E211E		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	211	LIM zinc-binding 2.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGTGTCGCCCCTCAGCTTCTG	0.498000												
ROBO2	6092	broad.mit.edu	37	3	77542474	77542474	+	Silent	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:77542474A>G	uc003dpy.3	+	5	1390	c.747A>G	c.(745-747)CAA>CAG	p.Q249Q	ROBO2_uc003dpz.2_Silent_p.Q249Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.Q249Q	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	249	Ig-like C2-type 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTCAAGTCCAAGGAGATCCTC	0.418000												
GABRR3	200959	broad.mit.edu	37	3	97731269	97731269	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:97731269T>C	uc011bgr.1	-	4	449	c.449A>G	c.(448-450)AAA>AGA	p.K150R		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	150	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0						GAAGGATCTTTTAGAGTGGAC	0.438000												
DPPA4	55211	broad.mit.edu	37	3	109046852	109046852	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:109046852T>G	uc003dxq.3	-	7	953	c.898A>C	c.(898-900)AGC>CGC	p.S300R	DPPA4_uc011bho.1_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	300						nucleus	protein binding			upper_aerodigestive_tract(1)	1						CATTGGAGGCTTTTTATTAAG	0.368000												
PHLDB2	90102	broad.mit.edu	37	3	111603429	111603429	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:111603429G>C	uc010hqa.2	+	2	916	c.505G>C	c.(505-507)GGT>CGT	p.G169R	PHLDB2_uc003dyc.2_Missense_Mutation_p.G196R|PHLDB2_uc003dyd.2_Missense_Mutation_p.G169R|PHLDB2_uc003dyg.2_Missense_Mutation_p.G169R|PHLDB2_uc003dyh.2_Missense_Mutation_p.G169R|PHLDB2_uc003dye.3_Missense_Mutation_p.G169R|PHLDB2_uc003dyf.3_Missense_Mutation_p.G169R	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	169						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AGGGCTGGAAGGTCGGAAGGC	0.552000												
MYLK	4638	broad.mit.edu	37	3	123375981	123375981	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:123375981T>G	uc003ego.2	-	24	4562	c.4280A>C	c.(4279-4281)AAA>ACA	p.K1427T	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.K227T|MYLK_uc011bjw.1_Missense_Mutation_p.K1427T|MYLK_uc003egp.2_Missense_Mutation_p.K1358T|MYLK_uc003egq.2_Missense_Mutation_p.K1427T|MYLK_uc003egr.2_Missense_Mutation_p.K1358T|MYLK_uc003egs.2_Missense_Mutation_p.K1251T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1427	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACCTTCAGGTTTCTCTCCTAC	0.478000												
ALDH1L1	10840	broad.mit.edu	37	3	125877314	125877314	+	Missense_Mutation	SNP	C	C	T	rs139977408		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:125877314C>T	uc003eim.1	-	3	486	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.R99Q|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.R125Q|ALDH1L1_uc003eip.1_Missense_Mutation_p.R8Q|ALDH1L1_uc011bkj.1_Intron	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	99	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGAGCCATGCCGGGGGGCACT	0.597000												
ZIC1	7545	broad.mit.edu	37	3	147127956	147127956	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:147127956G>A	uc003ewe.2	+	1	776	c.57G>A	c.(55-57)GCG>GCA	p.A19A		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	19					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A19A(1)		ovary(1)|central_nervous_system(1)	2						CCTTTGGCGCGTCCCGCCACC	0.731000												
MED12L	116931	broad.mit.edu	37	3	151082925	151082925	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:151082925C>T	uc003eyp.2	+	20	3049	c.3011C>T	c.(3010-3012)GCG>GTG	p.A1004V	MED12L_uc011bnz.1_Missense_Mutation_p.A864V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A167V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1004					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGACAATGCGGCCAATCGC	0.473000												
IFT80	57560	broad.mit.edu	37	3	159995162	159995162	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:159995162T>C	uc011boy.1	-	18	2464	c.2031A>G	c.(2029-2031)ATA>ATG	p.I677M	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.I540M|IFT80_uc003fdd.1_Missense_Mutation_p.I360M|IFT80_uc003fde.1_Missense_Mutation_p.I540M	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	677						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGAAGTACTATTTCAGCCT	0.353000												
USP13	8975	broad.mit.edu	37	3	179462842	179462842	+	Missense_Mutation	SNP	G	G	A	rs144016604	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:179462842G>A	uc003fkh.2	+	13	1627	c.1546G>A	c.(1546-1548)GCT>ACT	p.A516T	USP13_uc003fkf.2_Missense_Mutation_p.A516T	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	516					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGAACTGATCGCTTATGAACT	0.483000												
TP63	8626	broad.mit.edu	37	3	189584565	189584565	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:189584565G>A	uc003fry.2	+	6	950	c.861G>A	c.(859-861)CTG>CTA	p.L287L	TP63_uc003frx.2_Silent_p.L287L|TP63_uc003frz.2_Silent_p.L287L|TP63_uc010hzc.1_Silent_p.L287L|TP63_uc003fsa.2_Silent_p.L193L|TP63_uc003fsb.2_Silent_p.L193L|TP63_uc003fsc.2_Silent_p.L193L|TP63_uc003fsd.2_Silent_p.L193L|TP63_uc010hzd.1_Silent_p.L108L|TP63_uc003fse.1_Silent_p.L168L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	287					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGAGTGTGCTGGTACCTTATG	0.463000									Hay-Wells_syndrome	HNSCC(45;0.13)		
FGF12	2257	broad.mit.edu	37	3	191888291	191888291	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:191888291T>C	uc003fsx.2	-	4	1395	c.569A>G	c.(568-570)AAG>AGG	p.K190R	FGF12_uc003fsy.2_Missense_Mutation_p.K128R	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	190				K -> E (in Ref. 2; AAB18786).	cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CTTGGTTTTCTTCACTCTGTT	0.428000												
C3orf43	255798	broad.mit.edu	37	3	196242124	196242124	+	Translation_Start_Site	SNP	A	A	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:196242124A>T	uc003fws.2	-	1	114	c.-43T>A	c.(-45--41)TTTTG>TTATG		C3orf43_uc003fwr.2_Translation_Start_Site	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798							integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		aagcaaaacaaaaaaagcaaT	0.348000												
PDS5A	23244	broad.mit.edu	37	4	39910138	39910138	+	Silent	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:39910138A>G	uc003guv.3	-	11	1650	c.1110T>C	c.(1108-1110)CAT>CAC	p.H370H	PDS5A_uc010ifo.2_Silent_p.H330H|PDS5A_uc003guw.3_Silent_p.H370H	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	370					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						CTTCTGGATCATGTGATCTAA	0.343000												
ANKRD17	26057	broad.mit.edu	37	4	73984530	73984530	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:73984530T>C	uc003hgp.2	-	22	4180	c.4063A>G	c.(4063-4065)ACT>GCT	p.T1355A	ANKRD17_uc003hgo.2_Missense_Mutation_p.T1242A|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1104A|ANKRD17_uc003hgr.2_Missense_Mutation_p.T1354A|ANKRD17_uc011cbd.1_Missense_Mutation_p.T920A	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1355	ANK 24.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACAATGGAGTGTTCCCCTTC	0.393000												
SEC31A	22872	broad.mit.edu	37	4	83784523	83784523	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:83784523C>T	uc003hnf.2	-	12	1621	c.1457G>A	c.(1456-1458)CGT>CAT	p.R486H	SEC31A_uc003hne.2_Missense_Mutation_p.R258H|SEC31A_uc011ccl.1_Missense_Mutation_p.R486H|SEC31A_uc003hnl.2_Missense_Mutation_p.R486H|SEC31A_uc003hng.2_Missense_Mutation_p.R486H|SEC31A_uc003hnh.2_Missense_Mutation_p.R486H|SEC31A_uc003hni.2_Missense_Mutation_p.R486H|SEC31A_uc003hnj.2_Missense_Mutation_p.R486H|SEC31A_uc011ccm.1_Missense_Mutation_p.R481H|SEC31A_uc011ccn.1_Missense_Mutation_p.R486H|SEC31A_uc003hnk.2_Missense_Mutation_p.R486H|SEC31A_uc003hnm.2_Missense_Mutation_p.R486H|SEC31A_uc003hnn.1_Missense_Mutation_p.R486H|SEC31A_uc003hno.2_Missense_Mutation_p.R486H	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	486					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GTATTTTCCACGAGAATCATC	0.308000												
FAT4	79633	broad.mit.edu	37	4	126336957	126336957	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:126336957T>A	uc003ifj.3	+	5	6839	c.6839T>A	c.(6838-6840)CTT>CAT	p.L2280H	FAT4_uc011cgp.1_Missense_Mutation_p.L578H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2280	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGAACAATTCTTCAGGTCAGT	0.358000												
LRAT	9227	broad.mit.edu	37	4	155665763	155665763	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:155665763G>C	uc003iom.1	+	1	612	c.285G>C	c.(283-285)AAG>AAC	p.K95N	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.K95N	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	95	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCTCCAACAAGCGTCTCATCC	0.577000												
CPE	1363	broad.mit.edu	37	4	166385547	166385547	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:166385547C>T	uc003irg.3	+	2	590	c.313C>T	c.(313-315)CCT>TCT	p.P105S		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	105					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTAGGTGAGCCTGAATTTAA	0.378000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HAND2	9464	broad.mit.edu	37	4	174450016	174450016	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr4:174450016C>T	uc003ith.1	-	1	1363	c.425G>A	c.(424-426)CGC>CAC	p.R142H	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Silent_p.A107A|HAND2_uc010ire.1_Missense_Mutation_p.R142H	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	142	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGTGGCCAGGCGCAGGGTCTT	0.612000												
LPCAT1	79888	broad.mit.edu	37	5	1466949	1466949	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:1466949G>A	uc003jcm.2	-	13	1452	c.1335C>T	c.(1333-1335)CTC>CTT	p.L445L	LPCAT1_uc003jcl.2_Silent_p.L19L	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	445	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GGGCCGTCTTGAGGATGCAGG	0.622000												
IRX2	153572	broad.mit.edu	37	5	2748955	2748955	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:2748955G>A	uc003jda.2	-	3	1109	c.867C>T	c.(865-867)ACC>ACT	p.T289T	IRX2_uc003jdb.2_Silent_p.T289T	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	289						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CCTCCAAGCCGGTAAGCGGCG	0.552000												
HMGCS1	3157	broad.mit.edu	37	5	43298855	43298855	+	Silent	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:43298855A>G	uc003jnr.3	-	3	420	c.213T>C	c.(211-213)ACT>ACC	p.T71T	HMGCS1_uc003jnq.3_Silent_p.T71T	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	71					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0						TCTGAACCACAGTCATGCAAA	0.428000												
CMYA5	202333	broad.mit.edu	37	5	79025857	79025857	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:79025857G>T	uc003kgc.2	+	2	1341	c.1269G>T	c.(1267-1269)AAG>AAT	p.K423N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	423						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)		ATGAGGTAAAGAAGGAAGATG	0.478000												
EPB41L4A	64097	broad.mit.edu	37	5	111504783	111504783	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:111504783G>A	uc003kpv.1	-	21	2033	c.1759C>T	c.(1759-1761)CGC>TGC	p.R587C	EPB41L4A_uc003kpp.1_Missense_Mutation_p.R214C|EPB41L4A_uc003kpu.1_RNA	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	587						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGCCTGATGCGGATTGGGTCA	0.473000												
SEMA6A	57556	broad.mit.edu	37	5	115783307	115783307	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:115783307T>C	uc010jck.2	-	19	2804	c.2095A>G	c.(2095-2097)ATG>GTG	p.M699V	SEMA6A_uc003krx.3_Missense_Mutation_p.M716V|SEMA6A_uc011cwe.1_Missense_Mutation_p.M78V|SEMA6A_uc003krv.3_Missense_Mutation_p.M126V|SEMA6A_uc003krw.3_Missense_Mutation_p.M176V|SEMA6A_uc010jcj.2_Missense_Mutation_p.M243V	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	699	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)		ACGCTGCTCATGGAGCCCCGG	0.617000												
DMXL1	1657	broad.mit.edu	37	5	118580164	118580164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:118580164C>T	uc003ksd.2	+	42	8933	c.8752C>T	c.(8752-8754)CGA>TGA	p.R2918*	DMXL1_uc010jcl.1_Nonsense_Mutation_p.R2939*|DMXL1_uc010jcm.1_RNA|DMXL1_uc003kse.1_Nonsense_Mutation_p.R92*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2918	WD 14.									ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCTTTGTCAACGACAACAGAG	0.433000												
SLC12A2	6558	broad.mit.edu	37	5	127522312	127522312	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:127522312T>G	uc003kus.2	+	27	3792	c.3628T>G	c.(3628-3630)TTC>GTC	p.F1210V	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.F1194V	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1210	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGTCCTTACCTTCTATTCATA	0.423000												
VDAC1	7416	broad.mit.edu	37	5	133309533	133309533	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:133309533C>T	uc003kyp.1	-	8	808	c.709G>A	c.(709-711)GTG>ATG	p.V237M	VDAC1_uc003kyq.1_Missense_Mutation_p.V237M|VDAC1_uc003kyr.1_Missense_Mutation_p.V237M	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	237	Beta stranded.				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GAGTTGTTCACTTTAGCCTAA	0.358000												
FAM13B	51306	broad.mit.edu	37	5	137278591	137278591	+	Missense_Mutation	SNP	C	C	T	rs142996518	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:137278591C>T	uc003lbz.2	-	21	3029	c.2495G>A	c.(2494-2496)CGA>CAA	p.R832Q	FAM13B_uc003lcb.2_Missense_Mutation_p.R708Q|FAM13B_uc003lca.2_Missense_Mutation_p.R804Q	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	832					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						ACTTGACAATCGGAGATCCAG	0.328000												
PCDHA3	56145	broad.mit.edu	37	5	140183159	140183159	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:140183159G>A	uc003lhf.2	+	1	2377	c.2377G>A	c.(2377-2379)GTT>ATT	p.V793I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V793I	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	793	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGTGGACGTTGATCTCTC	0.428000												
PCDHB11	56125	broad.mit.edu	37	5	140581715	140581715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:140581715C>T	uc003liy.2	+	1	2368	c.2368C>T	c.(2368-2370)CGA>TGA	p.R790*	PCDHB11_uc011daj.1_Nonsense_Mutation_p.R425*	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	790	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCACCTTTCGAAATAGCTT	0.323000												
PCDHGA11	56105	broad.mit.edu	37	5	140802438	140802438	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:140802438G>A	uc003lkq.1	+	1	1902	c.1644G>A	c.(1642-1644)TCG>TCA	p.S548S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.S548S|PCDHGA11_uc003lkp.1_Silent_p.S548S	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	548	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)			GCAACGTGTCGCTGAGCCTGT	0.607000												
PCDHGA12	26025	broad.mit.edu	37	5	140812049	140812049	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:140812049G>A	uc003lkt.1	+	1	1892	c.1723G>A	c.(1723-1725)GTG>ATG	p.V575M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.V575M	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	575	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTGGCGTGGAGCTGGC	0.662000												
TBC1D9B	23061	broad.mit.edu	37	5	179297278	179297278	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:179297278A>T	uc003mlh.2	-	16	2739	c.2702T>A	c.(2701-2703)TTC>TAC	p.F901Y	TBC1D9B_uc003mli.2_Missense_Mutation_p.F901Y|TBC1D9B_uc003mlj.2_Missense_Mutation_p.F901Y|TBC1D9B_uc003mlg.2_Missense_Mutation_p.F77Y|TBC1D9B_uc011dgv.1_Missense_Mutation_p.F77Y|TBC1D9B_uc011dgw.1_Missense_Mutation_p.F77Y|TBC1D9B_uc003mlk.1_Missense_Mutation_p.F59Y	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	901	EF-hand.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACTCCTTGAAGTTGATCAG	0.597000												
SCGN	10590	broad.mit.edu	37	6	25665223	25665223	+	Missense_Mutation	SNP	G	G	A	rs151030217		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:25665223G>A	uc003nfb.2	+	4	502	c.299G>A	c.(298-300)CGG>CAG	p.R100Q	SCGN_uc010jpz.2_Missense_Mutation_p.G10R	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	100						extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						CTCTTTCGCCGGGAAAACCCA	0.483000												
HIST1H2BF	8343	broad.mit.edu	37	6	26199793	26199793	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:26199793G>A	uc003ngx.2	+	1	7	c.7G>A	c.(7-9)GAA>AAA	p.E3K	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	3					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)				TATCATGCCTGAACCTGCTAA	0.488000												
BTN2A2	10385	broad.mit.edu	37	6	26392925	26392925	+	Missense_Mutation	SNP	G	G	T	rs139419531		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:26392925G>T	uc003nhq.2	+	8	1388	c.1302G>T	c.(1300-1302)GAG>GAT	p.E434D	BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.E318D|BTN2A2_uc011dkh.1_Missense_Mutation_p.E224D|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.E434D|BTN2A2_uc011dki.1_3'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	434	B30.2/SPRY.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CCTCCCCTGAGAGGATTCTCC	0.542000												
GABBR1	2550	broad.mit.edu	37	6	29591187	29591187	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:29591187C>T	uc003nmt.3	-	8	1194	c.858G>A	c.(856-858)ACG>ACA	p.T286T	GABBR1_uc003nmp.3_Silent_p.T169T|GABBR1_uc003nms.3_Silent_p.T169T|GABBR1_uc003nmu.3_Silent_p.T224T|GABBR1_uc011dlr.1_Silent_p.T109T|GABBR1_uc011dls.1_Silent_p.T286T	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	286	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CTGATGGGTGCGTTCGGAAGA	0.562000												
GTF2H4	2968	broad.mit.edu	37	6	30878477	30878477	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:30878477G>T	uc003nsa.1	+	5	617	c.410G>T	c.(409-411)GGA>GTA	p.G137V	GTF2H4_uc010jsf.2_Missense_Mutation_p.G137V|GTF2H4_uc011dmv.1_Missense_Mutation_p.G81V|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Missense_Mutation_p.G143V	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	137					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						AGTCAGCTGGGACCAGACAAG	0.498000								NER				
VARS2	57176	broad.mit.edu	37	6	30886684	30886684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:30886684C>T	uc003nsc.1	+	10	1698	c.1066C>T	c.(1066-1068)CGA>TGA	p.R356*	VARS2_uc011dmx.1_Nonsense_Mutation_p.R356*|VARS2_uc011dmy.1_Nonsense_Mutation_p.R216*|VARS2_uc011dmz.1_Nonsense_Mutation_p.R386*|VARS2_uc011dna.1_Nonsense_Mutation_p.R356*|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	356					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						AGACGACTCGCGATACACAGT	0.527000												
GRM4	2914	broad.mit.edu	37	6	34101106	34101106	+	Silent	SNP	C	C	T	rs140904979	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:34101106C>T	uc003oir.3	-	1	338	c.168G>A	c.(166-168)CCG>CCA	p.P56P	GRM4_uc011dsn.1_Silent_p.P56P|GRM4_uc010jvh.2_Silent_p.P56P|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	56	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GGCCATGCACCGGGAACAGGC	0.607000												
MAPK13	5603	broad.mit.edu	37	6	36104269	36104269	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:36104269G>A	uc003ols.2	+	6	554	c.456G>A	c.(454-456)AAG>AAA	p.K152K	MAPK13_uc003olt.2_RNA	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	152	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						AGGACCTGAAGCCAGGCAACC	0.383000												
ZNF318	24149	broad.mit.edu	37	6	43322584	43322584	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:43322584G>A	uc003oux.2	-	4	2566	c.2488C>T	c.(2488-2490)CGT>TGT	p.R830C	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	830					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGACGGCTACGAGTAGCTTGT	0.522000												
PHIP	55023	broad.mit.edu	37	6	79711671	79711671	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:79711671G>A	uc003pir.2	-	17	2050	c.1824C>T	c.(1822-1824)GGC>GGT	p.G608G	PHIP_uc011dyp.1_Silent_p.G608G	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	608					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AATTTTCACGGCCAGGAACTA	0.443000												
TBX18	9096	broad.mit.edu	37	6	85446530	85446530	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:85446530C>T	uc003pkl.1	-	8	1697	c.1697G>A	c.(1696-1698)CGG>CAG	p.R566Q	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	566					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAACATCTGCCGATCCGTCAT	0.527000												
HTR1E	3354	broad.mit.edu	37	6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:87725488G>A	uc003pli.2	+	2	1139	c.436G>A	c.(436-438)GTC>ATC	p.V146I		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	146	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		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)	GATCCTTACCGTCTGGACCAT	0.582000												
LAMA2	3908	broad.mit.edu	37	6	129513974	129513974	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:129513974G>A	uc003qbn.2	+	12	1863	c.1758G>A	c.(1756-1758)GCG>GCA	p.A586A	LAMA2_uc003qbo.2_Silent_p.A586A	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	586	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGGAGCGCGCCGGCTCCCT	0.547000												
EPB41L2	2037	broad.mit.edu	37	6	131190857	131190857	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:131190857A>G	uc003qch.2	-	15	2635	c.2453T>C	c.(2452-2454)GTA>GCA	p.V818A	EPB41L2_uc003qce.1_Missense_Mutation_p.V196A|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.V215A	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	818					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTGGGCACCTACATTTTCCTG	0.512000												
SYNE1	23345	broad.mit.edu	37	6	152671429	152671429	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:152671429T>G	uc010kiw.2	-	72	12377	c.11775A>C	c.(11773-11775)GAA>GAC	p.E3925D	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.E3925D|SYNE1_uc010kja.1_Missense_Mutation_p.E630D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3925	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)		TGTTGTAGTCTTCATGGTCTT	0.498000										HNSCC(10;0.0054)		
MYCT1	80177	broad.mit.edu	37	6	153019200	153019200	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:153019200A>C	uc003qpd.3	+	1	171	c.163A>C	c.(163-165)AGT>CGT	p.S55R	MYCT1_uc010kjc.1_Missense_Mutation_p.S55R|MYCT1_uc003qpc.3_Missense_Mutation_p.S55R	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	55						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TAACACAACAAGTTTAGGGAG	0.313000												
DLL1	28514	broad.mit.edu	37	6	170597377	170597377	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:170597377C>T	uc003qxm.2	-	4	1090	c.620G>A	c.(619-621)CGT>CAT	p.R207H	DLL1_uc011ehc.1_Missense_Mutation_p.R207H	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	207	Extracellular (Potential).|DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TTTCTCCCCACGCTCCCCACA	0.622000												
TMEM195	392636	broad.mit.edu	37	7	15405188	15405188	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:15405188C>T	uc003stb.1	-	12	1384	c.1214G>A	c.(1213-1215)CGA>CAA	p.R405Q		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	405					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						GTGACCAAATCGGTACAGCAT	0.408000												
ABCB5	340273	broad.mit.edu	37	7	20793081	20793081	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:20793081T>G	uc003suw.3	+	18	2739	c.2193T>G	c.(2191-2193)ATT>ATG	p.I731M	ABCB5_uc010kuh.2_Missense_Mutation_p.I1176M	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	731	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						AACCCAAAATTTTATTGTTGG	0.393000												
LANCL2	55915	broad.mit.edu	37	7	55493072	55493072	+	Silent	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:55493072G>T	uc003tqp.2	+	7	1712	c.1134G>T	c.(1132-1134)CTG>CTT	p.L378L		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	378					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ATTCCTTCCTGTCCCTTTACC	0.552000												
AUTS2	26053	broad.mit.edu	37	7	70231287	70231287	+	Silent	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:70231287C>A	uc003tvw.3	+	9	2399	c.1656C>A	c.(1654-1656)CCC>CCA	p.P552P	AUTS2_uc003tvx.3_Silent_p.P552P|AUTS2_uc011keg.1_5'UTR	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	552										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCATCCCACCCACCGCCATCA	0.448000												
AUTS2	26053	broad.mit.edu	37	7	70254894	70254894	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:70254894T>C	uc003tvw.3	+	19	3435	c.2692T>C	c.(2692-2694)TCG>CCG	p.S898P	AUTS2_uc003tvx.3_Missense_Mutation_p.S874P|AUTS2_uc011keg.1_Missense_Mutation_p.S350P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	898										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGAGACCACTCGGAATCCCG	0.657000												
ABCB4	5244	broad.mit.edu	37	7	87069090	87069090	+	Missense_Mutation	SNP	C	C	T	rs140631210		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:87069090C>T	uc003uiv.1	-	14	1700	c.1624G>A	c.(1624-1626)GCC>ACC	p.A542T	ABCB4_uc003uiw.1_Missense_Mutation_p.A542T|ABCB4_uc003uix.1_Missense_Mutation_p.A542T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	542	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CGTGCAATGGCGATCCTCTGC	0.532000												
CYP3A4	1576	broad.mit.edu	37	7	99377613	99377613	+	Splice_Site	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:99377613A>G	uc003urv.1	-	2	269	c.165_splice	c.e2+1	p.K55_splice	CYP3A4_uc003urw.1_Splice_Site_p.K55_splice|CYP3A4_uc011kiz.1_Splice_Site_p.K55_splice|CYP3A4_uc011kja.1_Intron|CYP3A4_uc011kjb.1_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,						alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAAAACACTCACCTTATGGTA	0.418000												
AZGP1	563	broad.mit.edu	37	7	99565777	99565777	+	Splice_Site	SNP	C	C	T	rs112067579		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:99565777C>T	uc003ush.2	-	3	657	c.613_splice	c.e3+1	p.D205_splice		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc						antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCAGTGAGTACCTTGCCGGTC	0.542000												
AP4M1	9179	broad.mit.edu	37	7	99700524	99700524	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:99700524G>T	uc003utb.3	+	4	500	c.292G>T	c.(292-294)GGC>TGC	p.G98C	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.G98C|AP4M1_uc010lgl.1_Missense_Mutation_p.G98C|AP4M1_uc003utc.3_Missense_Mutation_p.G105C|AP4M1_uc010lgm.2_Intron|AP4M1_uc003utd.2_Missense_Mutation_p.G98C|AP4M1_uc011kjh.1_Missense_Mutation_p.G50C|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	98					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCTCCCTGGGCGAGGGGAC	0.562000												
C7orf51	222950	broad.mit.edu	37	7	100086295	100086295	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:100086295G>C	uc003uvd.1	+	4	1110	c.951G>C	c.(949-951)AAG>AAC	p.K317N	C7orf51_uc003uve.1_Missense_Mutation_p.K99N	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	317	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCCCACCAAGACCACTCCTT	0.687000												
CUX1	1523	broad.mit.edu	37	7	101844897	101844897	+	Missense_Mutation	SNP	G	G	A	rs141755950		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:101844897G>A	uc003uyx.3	+	18	2358	c.2320G>A	c.(2320-2322)GGT>AGT	p.G774S	CUX1_uc003uys.3_Missense_Mutation_p.G785S|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	774					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TCCTGAGGCCGGTGCCTCTGC	0.682000												
SLC26A4	5172	broad.mit.edu	37	7	107350529	107350529	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:107350529G>A	uc003vep.2	+	19	2344	c.2120G>A	c.(2119-2121)GGG>GAG	p.G707E	SLC26A4_uc011kmb.1_Missense_Mutation_p.G294E|SLC26A4_uc011kmc.1_Missense_Mutation_p.G268E|SLC26A4_uc011kmd.1_Missense_Mutation_p.G276E	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	707	STAS.|Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						GAGCAATGCGGGTTCTTTGAC	0.333000									Pendred_syndrome			
ATP6V0A4	50617	broad.mit.edu	37	7	138453530	138453530	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:138453530G>T	uc003vuf.2	-	4	524	c.286C>A	c.(286-288)CTG>ATG	p.L96M	ATP6V0A4_uc003vug.2_Missense_Mutation_p.L96M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.L96M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	96	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						CTTACCTCCAGGGTAATCATT	0.512000												
OR2F1	26211	broad.mit.edu	37	7	143657472	143657472	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:143657472C>T	uc003wds.1	+	1	453	c.409C>T	c.(409-411)CAT>TAT	p.H137Y		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					GGCCATCATGCATGGAGGGCT	0.572000												
ZNF398	57541	broad.mit.edu	37	7	148851197	148851197	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:148851197G>A	uc003wfl.2	+	2	460	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.R67Q	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	62					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ATCCACAGCCGGCGACTCCTA	0.577000												
SSPO	23145	broad.mit.edu	37	7	149486358	149486358	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:149486358C>T	uc010lpk.2	+	30	4334	c.4334C>T	c.(4333-4335)ACG>ATG	p.T1445M		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1445	LDL-receptor class A 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGATGGCACGGATGAGCCG	0.692000												
RARRES2	5919	broad.mit.edu	37	7	150036113	150036113	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:150036113G>A	uc003wha.2	-	4	454	c.337C>T	c.(337-339)CGG>TGG	p.R113W	RARRES2_uc010lpp.1_Missense_Mutation_p.R113W	NM_002889	NP_002880	Q99969	RARR2_HUMAN	chemerin preproprotein	113					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGGACCAACCGGCCCAGAACT	0.597000												
CSMD1	64478	broad.mit.edu	37	8	2964055	2964055	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:2964055C>T	uc011kwk.1	-	46	7337	c.6947G>A	c.(6946-6948)TGT>TAT	p.C2316Y	CSMD1_uc011kwj.1_Missense_Mutation_p.C1708Y|CSMD1_uc010lrg.2_Missense_Mutation_p.C384Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2316	Extracellular (Potential).|Sushi 13.					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)		CATACCTTCACATGTTGGGAG	0.433000												
CSMD1	64478	broad.mit.edu	37	8	2976048	2976048	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:2976048C>T	uc011kwk.1	-	42	6696	c.6306G>A	c.(6304-6306)TCG>TCA	p.S2102S	CSMD1_uc011kwj.1_Silent_p.S1494S|CSMD1_uc010lrg.2_Silent_p.S170S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2102	Extracellular (Potential).|Sushi 12.					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)		CGCTGTAATCCGAGTTGATCA	0.418000												
CSMD1	64478	broad.mit.edu	37	8	3087592	3087592	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:3087592A>C	uc011kwk.1	-	27	4708	c.4318T>G	c.(4318-4320)TTT>GTT	p.F1440V	CSMD1_uc011kwj.1_Missense_Mutation_p.F832V|CSMD1_uc003wqe.2_Missense_Mutation_p.F596V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1440	Extracellular (Potential).|Sushi 8.					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)		GGTTGCCAAAAGAACCGGTTA	0.473000												
DCTN6	10671	broad.mit.edu	37	8	30038094	30038094	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:30038094C>T	uc003xhy.2	+	6	509	c.422C>T	c.(421-423)ACG>ATG	p.T141M		NM_006571	NP_006562	O00399	DCTN6_HUMAN	dynactin 6	141						centrosome	transferase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		CCTGAGAATACGGTGATCTAT	0.438000												
C8orf41	80185	broad.mit.edu	37	8	33369638	33369638	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:33369638G>T	uc003xjl.3	-	1	1019	c.494C>A	c.(493-495)ACT>AAT	p.T165N	C8orf41_uc003xjk.3_Missense_Mutation_p.T165N|C8orf41_uc010lvv.2_Missense_Mutation_p.T165N|C8orf41_uc003xjm.3_Missense_Mutation_p.T165N|C8orf41_uc003xjn.1_Missense_Mutation_p.T165N	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	165							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		AGATCTCGGAGTGGTCCATGG	0.522000												
CYP7A1	1581	broad.mit.edu	37	8	59410926	59410926	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:59410926C>A	uc003xtm.3	-	2	246	c.183G>T	c.(181-183)AGG>AGT	p.R61S		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	61					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GACCATGTTTCCTTTGATTTG	0.413000									Neonatal_Giant_Cell_Hepatitis			
CSPP1	79848	broad.mit.edu	37	8	67988734	67988734	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:67988734G>A	uc003xxi.2	+	3	256	c.225G>A	c.(223-225)AAG>AAA	p.K75K	CSPP1_uc003xxg.1_Silent_p.K75K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.K75K	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	75						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTCAGCGAAGCTTTCTGAAA	0.348000												
JPH1	56704	broad.mit.edu	37	8	75157411	75157411	+	Splice_Site	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:75157411C>T	uc003yae.2	-	4	1299	c.1259_splice	c.e4-1	p.G420_splice	JPH1_uc003yaf.2_Splice_Site_p.G420_splice|JPH1_uc003yag.1_Splice_Site_p.G284_splice	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1						calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TAATCAGGGCCTGGCCaaaaa	0.313000												
TRPS1	7227	broad.mit.edu	37	8	116427261	116427261	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:116427261T>C	uc003ynz.2	-	6	3295	c.2836A>G	c.(2836-2838)AGG>GGG	p.R946G	TRPS1_uc011lhy.1_Missense_Mutation_p.R950G|TRPS1_uc003yny.2_Missense_Mutation_p.R959G|TRPS1_uc010mcy.2_Missense_Mutation_p.R946G	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	946					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)			GTTCTCCTCCTAATAATCTGC	0.433000									Langer-Giedion_syndrome			
WISP1	8840	broad.mit.edu	37	8	134232990	134232990	+	Silent	SNP	C	C	T	rs150221105	byFrequency	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:134232990C>T	uc003yub.2	+	3	592	c.516C>T	c.(514-516)CGC>CGT	p.R172R	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	172	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACCCGCGGCGCGTGAGCATAC	0.672000												
ARC	23237	broad.mit.edu	37	8	143694717	143694717	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:143694717G>A	uc003ywn.1	-	1	1117	c.916C>T	c.(916-918)CGG>TGG	p.R306W		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	306					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TACAGGTCCCGCTTGCGCCAC	0.662000												
CYP11B1	1584	broad.mit.edu	37	8	143958607	143958607	+	Missense_Mutation	SNP	G	G	A	rs140336749		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:143958607G>A	uc003yxi.2	-	3	434	c.427C>T	c.(427-429)CGG>TGG	p.R143W	CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R143W|CYP11B1_uc010mey.2_Missense_Mutation_p.R214W	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	143					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGATTCAGCCGCAATCGGTTG	0.612000									Familial_Hyperaldosteronism_type_I			
CYP11B2	1585	broad.mit.edu	37	8	143999227	143999227	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:143999227G>A	uc003yxk.1	-	1	33	c.30C>T	c.(28-30)TGC>TGT	p.C10C		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	10					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCGCTGCCACGCACACCTCTG	0.612000									Familial_Hyperaldosteronism_type_I			
NAPRT1	93100	broad.mit.edu	37	8	144659548	144659548	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr8:144659548C>T	uc003yym.3	-	4	484	c.459G>A	c.(457-459)GCG>GCA	p.A153A	NAPRT1_uc003yyn.3_Silent_p.A153A|NAPRT1_uc011lkh.1_Silent_p.A153A|NAPRT1_uc003yyo.3_Silent_p.A153A	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	153					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCGAAGCCGCGCTGCGTTGG	0.677000												
PTPRD	5789	broad.mit.edu	37	9	8518099	8518099	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr9:8518099G>A	uc003zkk.2	-	20	2003	c.1292C>T	c.(1291-1293)TCG>TTG	p.S431L	PTPRD_uc003zkp.2_Missense_Mutation_p.S431L|PTPRD_uc003zkq.2_Missense_Mutation_p.S431L|PTPRD_uc003zkr.2_Missense_Mutation_p.S425L|PTPRD_uc003zks.2_Missense_Mutation_p.S421L|PTPRD_uc003zkl.2_Missense_Mutation_p.S431L|PTPRD_uc003zkm.2_Missense_Mutation_p.S418L|PTPRD_uc003zkn.2_Missense_Mutation_p.S431L|PTPRD_uc003zko.2_Missense_Mutation_p.S428L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	431	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGTGGTCGAACTCAACAT	0.502000										TSP Lung(15;0.13)		
SPTLC1	10558	broad.mit.edu	37	9	94808310	94808310	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr9:94808310C>G	uc004arl.1	-	12	1145	c.1107G>C	c.(1105-1107)AAG>AAC	p.K369N	SPTLC1_uc011ltv.1_Missense_Mutation_p.K369N	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	369	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTTGTCCGCACTTTTCCTTCA	0.299000												
SPTAN1	6709	broad.mit.edu	37	9	131329031	131329031	+	Silent	SNP	T	T	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr9:131329031T>C	uc004bvl.3	+	2	125	c.12T>C	c.(10-12)AGT>AGC	p.S4S	SPTAN1_uc011mbg.1_Silent_p.S4S|SPTAN1_uc011mbh.1_Silent_p.S16S|SPTAN1_uc004bvm.3_Silent_p.S4S|SPTAN1_uc004bvn.3_Silent_p.S4S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	4					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGGACCCAAGTGGGGTCAAAG	0.468000												
DOLK	22845	broad.mit.edu	37	9	131708026	131708026	+	Silent	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr9:131708026G>A	uc004bwr.2	-	1	1987	c.1557C>T	c.(1555-1557)TAC>TAT	p.Y519Y	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	519	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						TCTGTGTAGTGTATGCTTCCA	0.478000												
CSF2RA	1438	broad.mit.edu	37	X	1407666	1407666	+	Missense_Mutation	SNP	G	G	A	rs148928173		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:1407666G>A	uc010nct.2	+	7	680	c.358G>A	c.(358-360)GCT>ACT	p.A120T	CSF2RA_uc011mhb.1_Missense_Mutation_p.A120T|CSF2RA_uc004cpq.2_Missense_Mutation_p.A120T|CSF2RA_uc004cpn.2_Missense_Mutation_p.A120T|CSF2RA_uc004cpo.2_Missense_Mutation_p.A120T|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.A120T|CSF2RA_uc010ncv.2_Missense_Mutation_p.A120T|CSF2RA_uc004cpr.2_Missense_Mutation_p.A120T	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	120	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	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)			Sargramostim(DB00020)	GGAGGGTACCGCTGCTCAGAA	0.512000												
MAGEB3	4114	broad.mit.edu	37	X	30254145	30254145	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:30254145A>T	uc004dca.1	+	5	841	c.104A>T	c.(103-105)AAG>ATG	p.K35M		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	35											0						GCAACTAACAAGAAAAAAGTA	0.517000												
FAM47C	442444	broad.mit.edu	37	X	37028749	37028749	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:37028749G>C	uc004ddl.1	+	1	2280	c.2266G>C	c.(2266-2268)GAG>CAG	p.E756Q		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	756										ovary(3)	3						AGAGCCTCTTGAGACTCGCGT	0.622000												
SSX5	6758	broad.mit.edu	37	X	48054788	48054788	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:48054788C>T	uc004dja.1	-	2	60	c.7G>A	c.(7-9)GGA>AGA	p.G3R	SSX5_uc004diz.1_Missense_Mutation_p.G3R	NM_175723	NP_783729	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5 isoform b	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						GCATCGTCTCCGTTCATGGCA	0.532000												
CACNA1F	778	broad.mit.edu	37	X	49076976	49076976	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:49076976C>A	uc004dnb.2	-	19	2437	c.2375G>T	c.(2374-2376)GGT>GTT	p.G792V	CACNA1F_uc010nip.2_Missense_Mutation_p.G781V	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	792	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	TTTCTCCACACCAGGCACCTG	0.572000												
TRO	7216	broad.mit.edu	37	X	54957106	54957106	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:54957106G>A	uc004dtq.2	+	12	4056	c.3949G>A	c.(3949-3951)GAT>AAT	p.D1317N	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D848N|TRO_uc004dtw.2_Missense_Mutation_p.D920N|TRO_uc004dtx.2_Missense_Mutation_p.D700N	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1317	51.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CAGCACCAGCGATGGCTTTGG	0.557000												
ZC3H12B	340554	broad.mit.edu	37	X	64722868	64722868	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:64722868G>A	uc010nko.2	+	5	2266	c.2257G>A	c.(2257-2259)GTG>ATG	p.V753M		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	753							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						GGTACGGAGCGTGCCTGAAAA	0.507000												
OPHN1	4983	broad.mit.edu	37	X	67339099	67339099	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:67339099A>T	uc004dww.3	-	16	1646	c.1352T>A	c.(1351-1353)TTC>TAC	p.F451Y	OPHN1_uc011mpg.1_Missense_Mutation_p.F451Y	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	451	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CCTGAGGTAGAATTTCAAGGA	0.398000												
DACH2	117154	broad.mit.edu	37	X	86069814	86069814	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:86069814A>G	uc004eew.2	+	10	1831	c.1661A>G	c.(1660-1662)GAC>GGC	p.D554G	DACH2_uc004eex.2_Missense_Mutation_p.D541G|DACH2_uc010nmq.2_Missense_Mutation_p.D420G|DACH2_uc011mra.1_Missense_Mutation_p.D387G|DACH2_uc010nmr.2_Missense_Mutation_p.D335G|DACH2_uc004eey.2_Missense_Mutation_p.D247G|DACH2_uc004eez.2_Missense_Mutation_p.D237G	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	554	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						ACCACTAGTGACAGTGGCCTG	0.378000												
GUCY2F	2986	broad.mit.edu	37	X	108631760	108631760	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:108631760T>A	uc004eod.3	-	15	3190	c.2914A>T	c.(2914-2916)ATG>TTG	p.M972L	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	972	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						ACTTCTGGCATGTGCCGCATC	0.468000												
ACSL4	2182	broad.mit.edu	37	X	108911351	108911351	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:108911351C>T	uc004eoi.2	-	12	1922	c.1417G>A	c.(1417-1419)GGT>AGT	p.G473S	ACSL4_uc004eoj.2_Missense_Mutation_p.G432S|ACSL4_uc004eok.2_Missense_Mutation_p.G432S|ACSL4_uc010npp.1_Missense_Mutation_p.G473S	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	473	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	GTCCCAGCACCACATGATTCT	0.453000												
GLUD2	2747	broad.mit.edu	37	X	120181760	120181760	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:120181760C>T	uc004eto.2	+	1	299	c.222C>T	c.(220-222)TTC>TTT	p.F74F		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	74					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)	AGGGCTTCTTCGATCGCGGCG	0.662000												
ARHGAP36	158763	broad.mit.edu	37	X	130222707	130222707	+	Missense_Mutation	SNP	G	G	A	rs145932994		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:130222707G>A	uc004evz.2	+	12	1937	c.1592G>A	c.(1591-1593)CGT>CAT	p.R531H	ARHGAP36_uc004ewa.2_Missense_Mutation_p.R519H|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R500H|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R395H	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	531					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						CCATTGCTCCGTGTGCCCCGG	0.577000												
ZNF75D	7626	broad.mit.edu	37	X	134426208	134426208	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:134426208T>A	uc004eyp.2	-	4	3258	c.603A>T	c.(601-603)AGA>AGT	p.R201S	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	201					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCTCCTCACCTCTTTCATATA	0.458000												
MAGEC2	51438	broad.mit.edu	37	X	141291507	141291507	+	Silent	SNP	C	C	T			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chrX:141291507C>T	uc004fbu.1	-	3	615	c.267G>A	c.(265-267)CAG>CAA	p.Q89Q		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	89	Ser-rich.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					gtggaggaccctgtggaggac	0.423000										HNSCC(46;0.14)		
ALOX12	239	broad.mit.edu	37	17	6905132	6905133	+	Splice_Site	INS	-	-	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:6905132_6905133insA	uc002gdx.3	+	8	1214	c.1161_splice	c.e8+2	p.K387_splice	uc002gdy.1_RNA	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase						anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						ATCTTCAAGGTACTTATTAATC	0.480												
ALOX12	239	broad.mit.edu	37	17	6905133	6905134	+	Splice_Site	INS	-	-	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:6905132_6905133T>TA	uc002gdx.4	+	8	1214	c.1161_splice	c.e8+2	p.K387_splice	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Non-coding_Transcript	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	387	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATCTTCAAGGTACTTATTAATC	0.480												
KIAA1217	56243	broad.mit.edu	37	10	24832909	24832910	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:24832909_24832910insA	uc001iru.3	+	19	5113_5114	c.4710_4711insA	c.(4708-4713)AAGAAAfs	p.K1570fs	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Frame_Shift_Ins_p.K1253fs|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Frame_Shift_Ins_p.K406fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1570_1571					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AAAGCCCCAAGAAAAAGTTTAA	0.465												
TMEM41B	440026	broad.mit.edu	37	11	9335967	9335967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr11:9335967delC	uc001mhm.2	-	1	330	c.22delG	c.(22-24)GAAfs	p.E8fs	TMEM41B_uc001mhn.1_Frame_Shift_Del_p.E8fs	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B isoform 1	8						integral to membrane					0				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TGCGATCGTTCGGCGACTCTG	0.672												
NAGPA	51172	broad.mit.edu	37	16	5080423	5080423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr16:5080423delC	uc002cyg.2	-	4	775	c.754delG	c.(754-756)GTGfs	p.V252fs	NAGPA_uc010buc.2_5'Flank|NAGPA_uc002cyf.2_Frame_Shift_Del_p.V110fs|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Intron	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	252	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	TGAAAGAGCACCAGCTGCCCT	0.597												
ALOX12	239	broad.mit.edu	37	17	6905132	6905133	+	Splice_Site	INS	-	-	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:6905132_6905133insA	uc002gdx.3	+	8	1214	c.1161_splice	c.e8+2	p.K387_splice	uc002gdy.1_RNA	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase						anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						ATCTTCAAGGTACTTATTAATC	0.480												
THOC1	9984	broad.mit.edu	37	18	225119	225119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr18:225119delG	uc002kkj.3	-	14	1147	c.1107delC	c.(1105-1107)CCCfs	p.P369fs	THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_3'UTR|THOC1_uc002kkh.3_5'UTR	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	369					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTCTCCATCGGGGGGGTTTT	0.388												
TRIP12	9320	broad.mit.edu	37	2	230652221	230652221	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:230652221delT	uc002vpw.1	-	32	4879	c.4770delA	c.(4768-4770)AAAfs	p.K1590fs	TRIP12_uc002vpx.1_Frame_Shift_Del_p.K1638fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.K1320fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1590					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGAAACTTACTTTTTTTCTAT	0.358												
ZDHHC11	79844	broad.mit.edu	37	5	850680	850680	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:850680delG	uc011cma.1	-	1	422	c.38delC	c.(37-39)CCAfs	p.P13fs	ZDHHC11_uc003jbj.2_5'Flank	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	13						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TATGGCTTCTGGGGTGACGGA	0.627												
TMEM168	64418	broad.mit.edu	37	7	112424808	112424811	+	Frame_Shift_Del	DEL	TATT	TATT	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr7:112424808_112424811delTATT	uc003vgn.2	-	2	462_465	c.70_73delAATA	c.(70-75)AATAGAfs	p.N24fs	TMEM168_uc010lju.2_Frame_Shift_Del_p.N24fs|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	24_25						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						TTCACTTCTCTATTTACTTCTTCC	0.382												
CDC73	79577	broad.mit.edu	37	1	193111146	193111147	+	Frame_Shift_Del	DEL	AG	AG	-	rs80356649		TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr1:193111145_193111146CAG>C	uc001gtb.3	+	6	921_922	c.678_679CAG>C	c.(676-681)agcagafs	p.S226fs		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	226					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ATATTGTCAGCAGAGAGAGAGT	0.396												
SLC4A5	57835	broad.mit.edu	37	2	74452025	74452025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr2:74452024_74452024CT>C	uc002sko.1	-	23	3239	c.3237_3237AG>G	c.(3235-3237)aagfs	p.K1079fs	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Frame_Shift_Del_p.K1063fs|SLC4A5_uc010ffc.1_Frame_Shift_Del_p.K982fs|SLC4A5_uc002skp.1_Frame_Shift_Del_p.K961fs|SLC4A5_uc002sks.1_Frame_Shift_Del_p.R971fs	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1079						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTCTGTCTCCTTTTTTTCCT	0.517												
CD96	10225	broad.mit.edu	37	3	111264137	111264145	+	In_Frame_Del	DEL	TCTGCACTT	TCTGCACTT	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr3:111264136_111264144CTCTGCACTT>C	uc003dxw.3	+	1	475_483	c.305_313CTCTGCACTT>C	c.(304-315)actctgcactta>aCta	p.LHL103del	CD96_uc003dxv.3_In_Frame_Del_p.LHL103del|CD96_uc003dxx.3_In_Frame_Del_p.LHL103del|CD96_uc010hpy.1_In_Frame_Del_p.LHL103del	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	103	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TCAAAATGGACTCTGCACTTAAGGAATAT	0.450									Opitz Trigonocephaly syndrome			
ZDHHC11	79844	broad.mit.edu	37	5	850567	850587	+	In_Frame_Del	DEL	CCACGAAGACAGCCCAGGTCA	CCACGAAGACAGCCCAGGTCA	-	rs147806046	by1000genomes	TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr5:850566_850586CCCACGAAGACAGCCCAGGTCA>C	uc011cma.1	-	0	516_536	c.132_152TGACCTGGGCTGTCTTCGTGGG>G	c.(130-153)gtgacctgggctgtcttcgtgggc>gtGc	p.TWAVFVG45del		NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	45						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CGAGGAAAGGCCCACGAAGACAGCCCAGGTCACCACCTGGA	0.552												
FILIP1	27145	broad.mit.edu	37	6	76124567	76124569	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr6:76124566_76124568TTTC>T	uc010kbe.3	-	2	660_662	c.130_132GAAA>A	c.(130-132)aaa>A	p.K44del	FILIP1_uc003phy.1_In_Frame_Del_p.K41del|FILIP1_uc003pia.3_In_Frame_Del_p.K41del	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	41										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCCTATTTGATTTCTTCTTCTTT	0.433												
KIAA1217	56243	broad.mit.edu	37	10	24832910	24832911	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr10:24832909_24832910G>GA	uc001iru.4	+	18	5113_5114	c.4710_4711G>GA	c.(4708-4713)aagaaafs	p.K1570fs	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Ins_p.K1253fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Ins_p.K406fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1570					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGCCCCAAGAAAAAGTTTAA	0.465												
RBM25	58517	broad.mit.edu	37	14	73572625	73572630	+	In_Frame_Del	DEL	CGAGAG	CGAGAG	-			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:73572624_73572629ACGAGAG>A	uc010ttu.2	+	11	1488_1493	c.1212_1217ACGAGAG>A	c.(1210-1218)gaacgagag>gaAg	p.404_406ERE>E	RBM25_uc001xno.3_In_Frame_Del_p.404_406ERE>E|RBM25_uc001xnp.3_In_Frame_Del_p.199_201ERE>E	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	404	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gagagagagaacgagagcgagaacga	0.447												
NRXN3	9369	broad.mit.edu	37	14	79432747	79432748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr14:79432746_79432747A>AG	uc001xun.3	+	8	2146_2147	c.1655_1656A>AG	c.(1654-1656)aagfs	p.K552fs	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Frame_Shift_Ins_p.K677fs	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	145					angiogenesis|cell adhesion	integral to membrane		p.V551V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGCTTGTCAAGGGGTAAGTAG	0.421												
ALOX12	239	broad.mit.edu	37	17	6905133	6905134	+	Splice_Site	INS	-	-	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr17:6905132_6905133T>TA	uc002gdx.4	+	8	1214	c.1161_splice	c.e8+2	p.K387_splice	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Non-coding_Transcript	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	387	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATCTTCAAGGTACTTATTAATC	0.480												
ZNF471	57573	broad.mit.edu	37	19	57035986	57035987	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8527-01A-11D-2340-08	TCGA-CD-8527-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1	e67a786e-eae8-4bf5-b3e7-7e8fe1083c98	g.chr19:57035985_57035986T>TA	uc002qnh.3	+	4	682_683	c.549_550T>TA	c.(547-552)gataaafs	p.D183fs		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACACATCAGATAAAAAAAGCTT	0.297												
