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
ERRFI1	54206	broad.mit.edu	37	1	8073678	8073678	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:8073678C>T	uc001aoz.2	-	4	1230	c.981G>A	c.(979-981)CCG>CCA	p.P327P	ERRFI1_uc001apa.1_Silent_p.P252P	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	327					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GCGAGTTACTCGGTGACAAAG	0.512000												
CLCN6	1185	broad.mit.edu	37	1	11894018	11894018	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:11894018G>A	uc001ate.3	+	15	1570	c.1457G>A	c.(1456-1458)AGT>AAT	p.S486N	CLCN6_uc010oat.1_Missense_Mutation_p.S202N|CLCN6_uc010oau.1_Missense_Mutation_p.S464N	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	486					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGTTCCAAGTGGCCTTTTT	0.423000												
PRAMEF1	65121	broad.mit.edu	37	1	12855741	12855741	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:12855741G>A	uc001auj.1	+	4	1124	c.1021G>A	c.(1021-1023)GGA>AGA	p.G341R		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	341	LRR 1.										0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACCCCTCGGAGCTCTGCT	0.532000												
CELA2B	51032	broad.mit.edu	37	1	15807638	15807638	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:15807638G>A	uc001awl.2	+	3	200	c.175G>A	c.(175-177)GGA>AGA	p.G59R		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	59	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						CCACACCTGCGGAGGGTCCCT	0.622000												
PADI2	11240	broad.mit.edu	37	1	17395561	17395561	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:17395561T>G	uc001baf.2	-	16	2058	c.1976A>C	c.(1975-1977)AAG>ACG	p.K659T	PADI2_uc010ocm.1_Missense_Mutation_p.K543T	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	659					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GTGCCACCACTTGAAGGTGAA	0.592000												
PADI2	11240	broad.mit.edu	37	1	17431375	17431375	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:17431375T>G	uc001baf.2	-	2	356	c.274A>C	c.(274-276)AAG>CAG	p.K92Q	PADI2_uc010ocm.1_Missense_Mutation_p.K92Q|PADI2_uc001bag.1_Missense_Mutation_p.K92Q	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	92					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGTGGTACCTTGTCACTGCTG	0.562000												
ZBTB40	9923	broad.mit.edu	37	1	22838278	22838278	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:22838278G>T	uc001bft.2	+	12	2623	c.2112G>T	c.(2110-2112)CAG>CAT	p.Q704H	ZBTB40_uc001bfu.2_Missense_Mutation_p.Q704H|ZBTB40_uc009vqi.1_Missense_Mutation_p.Q592H|ZBTB40_uc001bfv.1_Missense_Mutation_p.Q333H	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	704					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGACAGCCAGCCTGGGGAAC	0.483000												
TRIM63	84676	broad.mit.edu	37	1	26385077	26385077	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:26385077T>G	uc001bli.1	-	5	771	c.635A>C	c.(634-636)AAG>ACG	p.K212T		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	212	Interaction with TTN.|Potential.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTCAAACTTCTGGCTCAG	0.517000												
TNNI3K	51086	broad.mit.edu	37	1	74665404	74665404	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:74665404G>A	uc001dge.1	+	2	155	c.139G>A	c.(139-141)GAA>AAA	p.E47K	LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Missense_Mutation_p.E47K|TNNI3K_uc001dgd.2_Missense_Mutation_p.E47K|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Missense_Mutation_p.E47K|FPGT_uc001dgb.1_Missense_Mutation_p.E47K|FPGT_uc010oqv.1_Missense_Mutation_p.E47K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	Error:Variant_position_missing_in_Q59H18_after_alignment						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						AGCGGCTGATGAAAAACAGGA	0.398000												
GJA8	2703	broad.mit.edu	37	1	147380514	147380514	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:147380514G>C	uc001epu.1	+	2	495	c.432G>C	c.(430-432)GAG>GAC	p.E144D		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	144	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					TCCGGCTGGAGGGGACCCTGC	0.617000												
TMOD4	29765	broad.mit.edu	37	1	151144155	151144155	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:151144155C>T	uc001exc.3	-	6	762	c.572G>A	c.(571-573)CGA>CAA	p.R191Q	TMOD4_uc001exb.2_Missense_Mutation_p.R55Q|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.R122Q	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	191					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCATTGCTTCGGACCCTCTT	0.478000												
LCE1F	353137	broad.mit.edu	37	1	152748860	152748860	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:152748860C>A	uc010pdv.1	+	1	13	c.13C>A	c.(13-15)CAG>AAG	p.Q5K		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	5					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTGCCAGCAGAGCCAGCA	0.358000												
SHC1	6464	broad.mit.edu	37	1	154938440	154938440	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:154938440G>A	uc001ffv.2	-	10	1587	c.1366C>T	c.(1366-1368)CGG>TGG	p.R456W	SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.R227W|SHC1_uc001ffw.2_Missense_Mutation_p.R457W|SHC1_uc001ffx.2_Missense_Mutation_p.R347W|SHC1_uc001ffy.2_Missense_Mutation_p.R346W	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	456	Pro-rich.|CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACAGGTCCCGGGGTGCACTG	0.562000												
CD1C	911	broad.mit.edu	37	1	158259916	158259916	+	Splice_Site	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:158259916G>C	uc001fru.2	+	1	353	c.61_splice	c.e1+1	p.A21_splice	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor						antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					AATGCAGACGGTAAGAACATC	0.468000												
OR6N1	128372	broad.mit.edu	37	1	158735671	158735671	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:158735671G>C	uc010piq.1	-	1	802	c.802C>G	c.(802-804)CTG>GTG	p.L268V		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCATAGTCCAGTGAGTAGCTC	0.532000												
F5	2153	broad.mit.edu	37	1	169519916	169519916	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:169519916G>A	uc001ggg.1	-	9	1503	c.1358C>T	c.(1357-1359)TCG>TTG	p.S453L	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	453	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTCATAAGGCGAGAAGGTCAC	0.393000												
KCNT2	343450	broad.mit.edu	37	1	196309469	196309469	+	Splice_Site	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:196309469A>C	uc001gtd.1	-	16	1843	c.1783_splice	c.e16+1	p.G595_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.G545_splice|KCNT2_uc001gtf.1_Splice_Site_p.G595_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.2_Splice_Site_p.G595_splice|KCNT2_uc001gth.1_Splice_Site_p.G116_splice	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GTTTATACTTACCCATGCTGG	0.259000												
ASPM	259266	broad.mit.edu	37	1	197097721	197097721	+	Silent	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:197097721G>T	uc001gtu.2	-	10	3092	c.2835C>A	c.(2833-2835)GGC>GGA	p.G945G	ASPM_uc001gtv.2_Silent_p.G945G|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	945	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ATCCCAATAAGCCAAGGTGAC	0.403000												
TNNI1	7135	broad.mit.edu	37	1	201380578	201380578	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:201380578G>A	uc010ppq.1	-	7	456	c.363C>T	c.(361-363)GAC>GAT	p.D121D	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Silent_p.D100D	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	121					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						GGAGCATGGCGTCAGCCGAGA	0.597000												
USH2A	7399	broad.mit.edu	37	1	216262389	216262389	+	Silent	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:216262389A>G	uc001hku.1	-	23	5238	c.4851T>C	c.(4849-4851)GCT>GCC	p.A1617A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1617	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTGGCCAAAAGCCTGATGCC	0.378000										HNSCC(13;0.011)		
ESRRG	2104	broad.mit.edu	37	1	216737618	216737618	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:216737618A>T	uc001hkw.1	-	5	971	c.805T>A	c.(805-807)TGT>AGT	p.C269S	ESRRG_uc001hky.1_Missense_Mutation_p.C246S|ESRRG_uc009xdp.1_Missense_Mutation_p.C246S|ESRRG_uc001hkz.1_Missense_Mutation_p.C207S|ESRRG_uc010puc.1_Missense_Mutation_p.C246S|ESRRG_uc001hla.1_Missense_Mutation_p.C246S|ESRRG_uc001hlb.1_Missense_Mutation_p.C246S|ESRRG_uc010pud.1_Missense_Mutation_p.C77S|ESRRG_uc001hlc.1_Missense_Mutation_p.C246S|ESRRG_uc001hld.1_Missense_Mutation_p.C246S|ESRRG_uc001hkx.1_Missense_Mutation_p.C281S|ESRRG_uc009xdo.1_Missense_Mutation_p.C246S|ESRRG_uc001hle.1_Missense_Mutation_p.C246S	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	269					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCCAAGTCACACAGTGTAGTG	0.458000												
OR11L1	391189	broad.mit.edu	37	1	248004253	248004253	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:248004253T>C	uc001idn.1	-	1	946	c.946A>G	c.(946-948)AGT>GGT	p.S316G		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCCTTTTACTTGTACTCCAT	0.378000												
OR2AK2	391191	broad.mit.edu	37	1	248128748	248128748	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:248128748A>T	uc010pzd.1	+	1	115	c.115A>T	c.(115-117)AAC>TAC	p.N39Y	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	39	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGGCTGGATAAACTCTCTTCT	0.398000												
OR2M5	127059	broad.mit.edu	37	1	248309140	248309140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:248309140G>T	uc010pze.1	+	1	691	c.691G>T	c.(691-693)GGA>TGA	p.G231*		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATGGGATCTGGAGAGGGTCG	0.453000												
OR2T1	26696	broad.mit.edu	37	1	248570106	248570106	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:248570106A>T	uc010pzm.1	+	1	811	c.811A>T	c.(811-813)ATC>TTC	p.I271F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	271	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(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)			CTATGCCCGAATCCTGACTAC	0.517000												
CUBN	8029	broad.mit.edu	37	10	16932428	16932428	+	Silent	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:16932428A>G	uc001ioo.2	-	55	8749	c.8697T>C	c.(8695-8697)ACT>ACC	p.T2899T	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.T255T	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2899	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAAGACGGCAGTGAATGTGT	0.577000												
CUBN	8029	broad.mit.edu	37	10	17127608	17127608	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:17127608A>C	uc001ioo.2	-	16	2150	c.2098T>G	c.(2098-2100)TTA>GTA	p.L700V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	700	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGATGTTAAGTAGGTGATA	0.443000												
GPR158	57512	broad.mit.edu	37	10	25755587	25755587	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:25755587G>A	uc001isj.2	+	5	1403	c.1343G>A	c.(1342-1344)CGG>CAG	p.R448Q		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	448	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CAGAGCATCCGGGCATCGGGC	0.363000												
LYZL2	119180	broad.mit.edu	37	10	30915179	30915179	+	Silent	SNP	C	C	T	rs150345728	by1000genomes	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:30915179C>T	uc001ivk.2	-	3	304	c.291G>A	c.(289-291)GCG>GCA	p.A97A		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	51					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)				TCTCATAATACGCCATGCAGA	0.557000												
RET	5979	broad.mit.edu	37	10	43610164	43610164	+	Missense_Mutation	SNP	G	G	A	rs137855422		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:43610164G>A	uc001jal.2	+	11	2306	c.2116G>A	c.(2116-2118)GTG>ATG	p.V706M	RET_uc001jak.1_Missense_Mutation_p.V706M|RET_uc010qez.1_Missense_Mutation_p.V452M	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	706	Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCAGGTCTCCGTGGATGCCTT	0.677000		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma			
PCDH15	65217	broad.mit.edu	37	10	55700715	55700715	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:55700715A>C	uc001jju.1	-	24	3538	c.3143T>G	c.(3142-3144)CTT>CGT	p.L1048R	PCDH15_uc010qhq.1_Missense_Mutation_p.L1053R|PCDH15_uc010qhr.1_Missense_Mutation_p.L1048R|PCDH15_uc010qhs.1_Missense_Mutation_p.L1060R|PCDH15_uc010qht.1_Missense_Mutation_p.L1055R|PCDH15_uc010qhu.1_Missense_Mutation_p.L1048R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1048R|PCDH15_uc010qhw.1_Missense_Mutation_p.L1011R|PCDH15_uc010qhx.1_Missense_Mutation_p.L977R|PCDH15_uc010qhy.1_Missense_Mutation_p.L1053R|PCDH15_uc010qhz.1_Missense_Mutation_p.L1048R|PCDH15_uc010qia.1_Missense_Mutation_p.L1026R|PCDH15_uc010qib.1_Missense_Mutation_p.L1026R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1048	Cadherin 10.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGGTGGCAAGTTCACTTAC	0.308000										HNSCC(58;0.16)		
HERC4	26091	broad.mit.edu	37	10	69684937	69684937	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:69684937T>G	uc001jng.3	-	25	3181	c.2870A>C	c.(2869-2871)GAA>GCA	p.E957A	HERC4_uc009xpq.2_Missense_Mutation_p.E489A|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.E949A|HERC4_uc009xpr.2_Missense_Mutation_p.E879A|HERC4_uc001jni.3_Missense_Mutation_p.E693A	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	957	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						CCCTTTGTATTCTGTATTCTA	0.328000												
POLR3A	11128	broad.mit.edu	37	10	79777454	79777454	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:79777454C>T	uc001jzn.2	-	10	1404	c.1310G>A	c.(1309-1311)CGA>CAA	p.R437Q		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	437					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CATCTTTTCTCGATTTCCGTA	0.438000												
GRID1	2894	broad.mit.edu	37	10	87966198	87966198	+	Missense_Mutation	SNP	C	C	T	rs150264113	by1000genomes	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:87966198C>T	uc001kdl.1	-	3	544	c.443G>A	c.(442-444)CGC>CAC	p.R148H	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	148	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	ATCATTGAGGCGGACGGGTGG	0.622000										Multiple Myeloma(13;0.14)		
CPXM2	119587	broad.mit.edu	37	10	125622198	125622198	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr10:125622198A>T	uc001lhk.1	-	3	770	c.445T>A	c.(445-447)TTC>ATC	p.F149I	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	149	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGGAGCTGGAAGTCTGTGATT	0.502000												
OR52N1	79473	broad.mit.edu	37	11	5809914	5809914	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:5809914A>C	uc010qzo.1	-	1	133	c.133T>G	c.(133-135)TTC>GTC	p.F45V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATAAGGCCGAAGTTCCCTGTA	0.463000												
ZNF215	7762	broad.mit.edu	37	11	6977491	6977491	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:6977491T>G	uc001mey.2	+	7	1871	c.1283T>G	c.(1282-1284)CTT>CGT	p.L428R	ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.L190R|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	428	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CATCAAAAACTTCATGCTGAA	0.393000												
OR4C11	219429	broad.mit.edu	37	11	55371231	55371231	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:55371231T>G	uc010rii.1	-	1	619	c.619A>C	c.(619-621)AGT>CGT	p.S207R		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATGAAACTACTTGAGCAAATT	0.423000												
RTN3	10313	broad.mit.edu	37	11	63487876	63487876	+	Silent	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:63487876T>C	uc001nxq.2	+	3	2089	c.1902T>C	c.(1900-1902)TAT>TAC	p.Y634Y	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Silent_p.Y615Y|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Silent_p.Y522Y|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	634					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						CATCTGCCTATTTGGAGTCAT	0.373000												
C2CD3	26005	broad.mit.edu	37	11	73811600	73811600	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:73811600A>C	uc001ouu.2	-	15	2929	c.2702T>G	c.(2701-2703)CTT>CGT	p.L901R		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	901						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GTGGAGGGGAAGTTTCACCAG	0.418000												
USP35	57558	broad.mit.edu	37	11	77907439	77907439	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:77907439G>A	uc009yva.1	+	2	394	c.148G>A	c.(148-150)GTG>ATG	p.V50M	USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Translation_Start_Site|USP35_uc001ozf.2_5'Flank	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	50					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCGCCTCTACGTGGGCGGCGC	0.766000												
PDGFD	80310	broad.mit.edu	37	11	103797824	103797824	+	Missense_Mutation	SNP	T	T	C	rs138058754		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:103797824T>C	uc001phq.2	-	6	1175	c.803A>G	c.(802-804)AAG>AGG	p.K268R	PDGFD_uc001php.2_Missense_Mutation_p.K262R	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	268					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ACTGTAACGCTTGGCATCATC	0.468000												
ARHGAP20	57569	broad.mit.edu	37	11	110450220	110450220	+	Silent	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:110450220A>C	uc001pkz.1	-	16	3735	c.3450T>G	c.(3448-3450)TCT>TCG	p.S1150S	ARHGAP20_uc001pky.1_Silent_p.S1127S|ARHGAP20_uc009yyb.1_Silent_p.S1114S|ARHGAP20_uc001pla.1_Silent_p.S1114S|ARHGAP20_uc001plb.2_Silent_p.S693S	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1150					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGAACCAGAAGAGCTCTGAC	0.537000												
OR4D5	219875	broad.mit.edu	37	11	123810804	123810804	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:123810804G>T	uc001pzk.1	+	1	481	c.481G>T	c.(481-483)GCA>TCA	p.A161S		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	161	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTACAGATTGCATTGACTAT	0.507000												
OR10S1	219873	broad.mit.edu	37	11	123847867	123847867	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:123847867A>G	uc001pzm.1	-	1	532	c.532T>C	c.(532-534)TTC>CTC	p.F178L		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCAGGCGGAAGGTGAGGGAG	0.557000												
THYN1	29087	broad.mit.edu	37	11	134118356	134118356	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:134118356G>T	uc001qhf.2	-	8	756	c.654C>A	c.(652-654)AGC>AGA	p.S218R	THYN1_uc001qhg.2_Missense_Mutation_p.S218R|THYN1_uc001qhh.2_Missense_Mutation_p.S218R|THYN1_uc001qhi.2_3'UTR|THYN1_uc001qhj.2_3'UTR	NM_001037305	NP_001032382	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1 isoform 1	218						nucleus					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TTTCCTCCAGGCTCAAAACAA	0.418000												
B3GAT1	27087	broad.mit.edu	37	11	134257495	134257495	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr11:134257495A>G	uc001qhq.2	-	3	320	c.59T>C	c.(58-60)CTC>CCC	p.L20P	B3GAT1_uc001qhr.2_Missense_Mutation_p.L20P|B3GAT1_uc010scv.1_Missense_Mutation_p.L33P	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	20	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GACAGTGATGAGCAGAGTCCA	0.627000												
DCP1B	196513	broad.mit.edu	37	12	2102462	2102462	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:2102462T>C	uc001qjx.1	-	3	367	c.287A>G	c.(286-288)CAG>CGG	p.Q96R	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.Q96R	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	96					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAAGGGTCCTGGAGTTGGAA	0.398000												
CLEC2B	9976	broad.mit.edu	37	12	10005914	10005914	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:10005914C>T	uc001qwn.2	-	5	1092	c.435G>A	c.(433-435)AGG>AGA	p.R145R		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	145	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0						GTATTCTTTTCCTGCAAATCC	0.363000												
CLEC9A	283420	broad.mit.edu	37	12	10213760	10213760	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:10213760A>C	uc001qxa.2	+	6	820	c.207A>C	c.(205-207)CAA>CAC	p.Q69H		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	69	Extracellular (Potential).				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1						TGCAGCAGCAAGAAAAACTCA	0.403000												
C12orf39	80763	broad.mit.edu	37	12	21679829	21679829	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:21679829A>C	uc001rfa.1	+	2	167	c.16A>C	c.(16-18)AGT>CGT	p.S6R	C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	spexin precursor	6						extracellular region|nucleus|transport vesicle					0						GGGACTCAGAAGTCTGGCAGC	0.443000												
PLEKHA9	51054	broad.mit.edu	37	12	45567563	45567563	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:45567563A>C	uc001rom.1	-	3	1123	c.586T>G	c.(586-588)TTT>GTT	p.F196V	PLEKHA9_uc009zke.2_Missense_Mutation_p.F196V	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		ATGGTACTAAAGAAAGTTGGG	0.438000												
MAP3K12	7786	broad.mit.edu	37	12	53876660	53876660	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:53876660A>G	uc001sdm.1	-	12	1926	c.1828T>C	c.(1828-1830)TCC>CCC	p.S610P	MAP3K12_uc001sdn.1_Missense_Mutation_p.S643P	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	610					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						AGGTCTGGGGACGATGAAGAC	0.706000												
ATP5B	506	broad.mit.edu	37	12	57037207	57037207	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:57037207A>C	uc001slr.2	-	5	877	c.772T>G	c.(772-774)TTA>GTA	p.L258V		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	258					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						GCATCTTTTAAGTTGATAACA	0.418000												
RDH16	8608	broad.mit.edu	37	12	57351064	57351064	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:57351064C>T	uc001smi.3	-	1	355	c.183G>A	c.(181-183)CTG>CTA	p.L61L	RDH16_uc009zpa.2_Missense_Mutation_p.D3N|RDH16_uc010sqx.1_RNA	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	61	Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						CTTTCTCCGTCAGACATGCAG	0.597000												
KIF5A	3798	broad.mit.edu	37	12	57972098	57972098	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:57972098G>A	uc001sor.1	+	23	2719	c.2511G>A	c.(2509-2511)CTG>CTA	p.L837L	KIF5A_uc010srr.1_Silent_p.L748L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	837					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						AGAACAACCTGGAACAGCTTA	0.473000												
TSFM	10102	broad.mit.edu	37	12	58180066	58180066	+	Silent	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:58180066T>C	uc001sqi.2	+	3	401	c.352T>C	c.(352-354)TTA>CTA	p.L118L	TSFM_uc010sse.1_Silent_p.L78L|TSFM_uc001sqh.2_Silent_p.L118L|TSFM_uc010ssf.1_Silent_p.L118L	NM_005726	NP_005717	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	118					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity				0	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CACAACTGTATTAGTAGAGGT	0.507000												
ANO4	121601	broad.mit.edu	37	12	101437374	101437374	+	Silent	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:101437374T>C	uc010svm.1	+	13	1784	c.1212T>C	c.(1210-1212)TGT>TGC	p.C404C	ANO4_uc001thw.2_Silent_p.C369C|ANO4_uc001thx.2_Silent_p.C404C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	404	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						ATAAATACTGTCCATTCATGA	0.388000										HNSCC(74;0.22)		
SLC15A4	121260	broad.mit.edu	37	12	129294499	129294499	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:129294499C>T	uc001uhu.2	-	3	1053	c.1000G>A	c.(1000-1002)GTG>ATG	p.V334M	SLC15A4_uc001uhv.2_Intron	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	334	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TGGAAATACACTGTCCAGTAA	0.413000												
FZD10	11211	broad.mit.edu	37	12	130648416	130648416	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr12:130648416C>T	uc001uii.2	+	1	1385	c.929C>T	c.(928-930)ACG>ATG	p.T310M	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	310	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCGGCTGCACGCTGGTCTTC	0.662000												
TNFRSF19	55504	broad.mit.edu	37	13	24243121	24243121	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr13:24243121G>T	uc001uov.1	+	9	1194	c.1130G>T	c.(1129-1131)AGA>ATA	p.R377I	TNFRSF19_uc001uot.2_Missense_Mutation_p.R377I|TNFRSF19_uc010tcu.1_Missense_Mutation_p.R245I|TNFRSF19_uc001uow.2_Missense_Mutation_p.R377I	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	377	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GATTTATCTAGATATAACAAC	0.443000												
TRPC4	7223	broad.mit.edu	37	13	38229240	38229240	+	Silent	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr13:38229240A>T	uc001uws.2	-	7	2104	c.1869T>A	c.(1867-1869)TCT>TCA	p.S623S	TRPC4_uc010abv.2_Silent_p.S203S|TRPC4_uc001uwt.2_Silent_p.S623S|TRPC4_uc010tey.1_Silent_p.S623S|TRPC4_uc010abw.2_Silent_p.S450S|TRPC4_uc010abx.2_Silent_p.S623S|TRPC4_uc010aby.2_Silent_p.S623S	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	623	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCAGTTGGTAAGAATTATTCA	0.343000												
RB1	5925	broad.mit.edu	37	13	49039378	49039378	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr13:49039378G>A	uc001vcb.2	+	23	2529	c.2363G>A	c.(2362-2364)AGC>AAC	p.S788N		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	788	Interaction with LIMD1.|Domain C; mediates interaction with E4F1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTCCTCGAAGCCCTTACAAG	0.398000		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
TRIM13	10206	broad.mit.edu	37	13	50586183	50586183	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr13:50586183G>C	uc001vdq.1	+	3	420	c.107G>C	c.(106-108)GGT>GCT	p.G36A	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdp.1_Missense_Mutation_p.G39A|TRIM13_uc001vdr.1_Missense_Mutation_p.G36A|TRIM13_uc001vds.1_Missense_Mutation_p.G36A	NM_052811	NP_434698	O60858	TRI13_HUMAN	ret finger protein 2 isoform 1	36	RING-type.				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TGCTTAGAAGGTATCTTAGAA	0.448000												
OR11H4	390442	broad.mit.edu	37	14	20711736	20711736	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:20711736T>G	uc010tld.1	+	1	786	c.786T>G	c.(784-786)TAT>TAG	p.Y262*		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	262	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTCTTTTCTATGGGACAGTCA	0.423000												
NYNRIN	57523	broad.mit.edu	37	14	24879194	24879194	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:24879194G>C	uc001wpf.3	+	4	2512	c.2194G>C	c.(2194-2196)GCC>CCC	p.A732P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	732					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGGCACCTTGGCCCTCAGCAG	0.627000												
GZMH	2999	broad.mit.edu	37	14	25075923	25075923	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:25075923C>G	uc001wpr.1	-	5	672	c.627G>C	c.(625-627)AAG>AAC	p.K209N	GZMH_uc010aly.1_Missense_Mutation_p.K123N|GZMH_uc010alz.1_Missense_Mutation_p.R78T	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	209	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		GGGCTACGTCCTTACACACGA	0.512000												
MDGA2	161357	broad.mit.edu	37	14	47426781	47426781	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:47426781T>G	uc001wwj.3	-	9	1874	c.1678A>C	c.(1678-1680)AGT>CGT	p.S560R	MDGA2_uc001wwi.3_Missense_Mutation_p.S331R|MDGA2_uc010ani.2_Missense_Mutation_p.S120R	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	560	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						ACTCTGCAACTCATAGTGACA	0.453000												
NAA30	122830	broad.mit.edu	37	14	57858422	57858422	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:57858422C>A	uc001xcx.3	+	2	901	c.747C>A	c.(745-747)CAC>CAA	p.H249Q	NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	249	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1						ATTTTATCCACAACTGGCCAC	0.473000												
ZBTB1	22890	broad.mit.edu	37	14	64989463	64989463	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:64989463T>G	uc001xhh.3	+	4	1672	c.1241T>G	c.(1240-1242)GTA>GGA	p.V414G	ZBTB1_uc010aqg.2_Missense_Mutation_p.V414G|ZBTB1_uc001xhi.2_Missense_Mutation_p.V414G	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AGCAGTCCAGTACAAGAGGAT	0.413000												
RBM25	58517	broad.mit.edu	37	14	73577559	73577559	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:73577559G>A	uc001xno.2	+	15	1921	c.1713G>A	c.(1711-1713)AGG>AGA	p.R571R	RBM25_uc010ttu.1_Silent_p.R571R|RBM25_uc001xnp.2_Silent_p.R366R	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	571	Necessary for nuclear speckle localization.|Glu-rich.			RRRQ -> EAQE (in Ref. 8; AAC41999).	apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AGGCTGAGAGGCGCAGGCAGC	0.303000												
SERPINA12	145264	broad.mit.edu	37	14	94964633	94964633	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:94964633G>A	uc001ydj.2	-	3	898	c.102C>T	c.(100-102)AGC>AGT	p.S34S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	34					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		CTTGGACCTCGCTCAAAGCTT	0.498000												
CDC42BPB	9578	broad.mit.edu	37	14	103447159	103447159	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:103447159G>A	uc001ymi.1	-	8	1323	c.1091C>T	c.(1090-1092)CCC>CTC	p.P364L		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	364	AGC-kinase C-terminal.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGTGTCAGAGGGACTGCTCAC	0.458000												
AHNAK2	113146	broad.mit.edu	37	14	105421322	105421322	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr14:105421322T>C	uc010axc.1	-	6	743	c.623A>G	c.(622-624)CAG>CGG	p.Q208R	AHNAK2_uc001ypx.2_Missense_Mutation_p.Q108R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	208						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)			TGGGCCGTGCTGGGCATCGCT	0.602000												
ATP10A	57194	broad.mit.edu	37	15	25924926	25924926	+	Silent	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:25924926A>G	uc010ayu.2	-	21	4168	c.4062T>C	c.(4060-4062)TCT>TCC	p.S1354S		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1354	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTGTGTGCCAAGAAGGCTGGG	0.642000												
CASC4	113201	broad.mit.edu	37	15	44695301	44695301	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:44695301A>C	uc001zto.1	+	9	1588	c.1289A>C	c.(1288-1290)AAG>ACG	p.K430T	CASC4_uc001ztp.2_Intron|CASC4_uc001ztq.2_Intron	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4 isoform a	430	Lumenal (Potential).					integral to membrane				ovary(1)	1		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CCCACCTCTAAGTTTTTTGGT	0.368000												
DUOXA2	405753	broad.mit.edu	37	15	45408922	45408922	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:45408922G>A	uc001zuo.2	+	4	829	c.549G>A	c.(547-549)ACG>ACA	p.T183T	DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	183	Extracellular (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCTCGGCCACGCTATGGTAAG	0.647000												
KIAA1370	56204	broad.mit.edu	37	15	52902400	52902400	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:52902400C>T	uc002acg.3	-	6	864	c.711G>A	c.(709-711)GAG>GAA	p.E237E	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.E149E|KIAA1370_uc010ugf.1_Silent_p.E244E	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	237											0				all cancers(107;0.0803)		GAATTCTTTTCTCATAAAGGC	0.388000												
IGDCC4	57722	broad.mit.edu	37	15	65688265	65688265	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:65688265C>G	uc002aou.1	-	7	1444	c.1234G>C	c.(1234-1236)GGA>CGA	p.G412R	IGDCC4_uc002aot.1_5'UTR	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	412	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						CACGCCATTCCCGCGCTGTTC	0.716000												
KIAA1024	23251	broad.mit.edu	37	15	79750473	79750473	+	Missense_Mutation	SNP	C	C	T	rs147214893		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:79750473C>T	uc002bew.1	+	2	2059	c.1984C>T	c.(1984-1986)CGG>TGG	p.R662W	KIAA1024_uc010unk.1_Missense_Mutation_p.R662W	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	662						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TGCCTCTCCCCGGATGTTCCA	0.542000												
AGBL1	123624	broad.mit.edu	37	15	86791088	86791088	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr15:86791088A>G	uc002blz.1	+	6	655	c.575A>G	c.(574-576)GAG>GGG	p.E192G		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	192					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						CAGGGCATGGAGATCCTCTTC	0.612000												
ITFG3	83986	broad.mit.edu	37	16	304607	304607	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:304607C>T	uc002cgf.2	+	3	390	c.195C>T	c.(193-195)GTC>GTT	p.V65V	ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Silent_p.V65V|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Silent_p.V65V	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	65	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGGTGTTCGTCGTCTCATTCG	0.597000												
TAOK2	9344	broad.mit.edu	37	16	29994606	29994606	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:29994606G>C	uc002dva.1	+	12	1996	c.1213G>C	c.(1213-1215)GGG>CGG	p.G405R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.G405R|TAOK2_uc002dvc.1_Missense_Mutation_p.G405R|TAOK2_uc010bzm.1_Missense_Mutation_p.G412R|TAOK2_uc002dvd.1_Missense_Mutation_p.G232R	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	405	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GATGCAGGAGGGGGAGCACAC	0.488000												
DNAJA2	10294	broad.mit.edu	37	16	46991100	46991100	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:46991100T>G	uc002eeo.2	-	9	1222	c.1080A>C	c.(1078-1080)GAA>GAC	p.E360D	DNAJA2_uc002eep.2_Missense_Mutation_p.E277D	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	360					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TGTTAGGAACTTCCGGTCTAG	0.393000												
CES1	1066	broad.mit.edu	37	16	55862829	55862829	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:55862829T>G	uc002eim.2	-	2	215	c.107A>C	c.(106-108)AAG>ACG	p.K36T	CES1_uc002eil.2_Missense_Mutation_p.K37T|CES1_uc002ein.2_Missense_Mutation_p.K36T	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	36					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GCTGACGAACTTCCCCAGCAC	0.557000												
DOK4	55715	broad.mit.edu	37	16	57507377	57507377	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:57507377G>A	uc010cdb.2	-	8	1191	c.893C>T	c.(892-894)TCG>TTG	p.S298L	DOK4_uc002elu.1_Missense_Mutation_p.S337L|DOK4_uc002elv.3_Missense_Mutation_p.S298L	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	docking protein 4	298							insulin receptor binding			skin(1)	1						GTCTGTTTCCGAGCTGGCCTG	0.592000												
DPEP3	64180	broad.mit.edu	37	16	68014254	68014254	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:68014254G>A	uc002evc.3	-	1	199	c.105C>T	c.(103-105)CGC>CGT	p.R35R	DPEP3_uc010cex.2_Silent_p.R35R	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	10					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGCTGAGCGCGCGGGAACCCT	0.647000												
HYDIN	54768	broad.mit.edu	37	16	71196439	71196439	+	Silent	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:71196439A>G	uc002ezr.2	-	6	839	c.711T>C	c.(709-711)ACT>ACC	p.T237T	HYDIN_uc010cfz.1_Intron|HYDIN_uc002ezv.2_Silent_p.T237T|HYDIN_uc010vmc.1_Silent_p.T254T|HYDIN_uc010vmd.1_Silent_p.T264T|HYDIN_uc002ezw.3_Silent_p.T254T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	237										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CATACCTACAAGTTTTGATGT	0.388000												
ZFHX3	463	broad.mit.edu	37	16	72994020	72994020	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:72994020C>T	uc002fck.2	-	2	698	c.25G>A	c.(25-27)GTC>ATC	p.V9I	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	9					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TTCCCCGAGACGACGGGCGAG	0.517000												
C16orf55	124045	broad.mit.edu	37	16	89735830	89735830	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr16:89735830G>A	uc002fnw.1	+	3	345	c.345G>A	c.(343-345)CCG>CCA	p.P115P	C16orf55_uc010vpk.1_Silent_p.P116P|C16orf55_uc002fny.1_RNA	NM_153025	NP_694570	Q96N06	CP055_HUMAN	hypothetical protein LOC124045	115											0		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TTCGGGAGCCGGAGGACTGGG	0.557000												
GEMIN4	50628	broad.mit.edu	37	17	649624	649624	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:649624G>A	uc002frs.1	-	2	1778	c.1659C>T	c.(1657-1659)GTC>GTT	p.V553V		NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	553					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGTGCACTATGACCAGGCGGG	0.557000												
KIAA0753	9851	broad.mit.edu	37	17	6499612	6499612	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:6499612A>C	uc002gde.3	-	15	2583	c.2224T>G	c.(2224-2226)TTG>GTG	p.L742V	KIAA0753_uc010vtd.1_Missense_Mutation_p.L198V|KIAA0753_uc010clo.2_Missense_Mutation_p.L443V|KIAA0753_uc010vte.1_Missense_Mutation_p.L443V	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	742						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		CAATCTTCCAAAAAATCATCA	0.363000												
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:7577124C>T	uc002gim.2	-	8	1008	c.814G>A	c.(814-816)GTG>ATG	p.V272M	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.V272M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V140M|TP53_uc010cng.1_Missense_Mutation_p.V140M|TP53_uc002gii.1_Missense_Mutation_p.V140M|TP53_uc010cnh.1_Missense_Mutation_p.V272M|TP53_uc010cni.1_Missense_Mutation_p.V272M|TP53_uc002gij.2_Missense_Mutation_p.V272M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	272	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> M (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(67)|p.V272L(24)|p.V272E(8)|p.0?(7)|p.V272A(7)|p.V272G(4)|p.V272fs*73(4)|p.V272V(3)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYH8	4626	broad.mit.edu	37	17	10315972	10315972	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:10315972G>A	uc002gmm.2	-	13	1316	c.1221C>T	c.(1219-1221)GTC>GTT	p.V407V	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	407	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TGCCAACCTTGACCCTAGGGT	0.507000									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
KRT27	342574	broad.mit.edu	37	17	38938425	38938425	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:38938425C>T	uc002hvg.2	-	1	362	c.321G>A	c.(319-321)GAG>GAA	p.E107E		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	107	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				CAGCGTTGGCCTCCTCTAGGG	0.527000												
TBC1D16	125058	broad.mit.edu	37	17	77922698	77922698	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:77922698T>A	uc002jxj.2	-	8	1630	c.1514A>T	c.(1513-1515)GAA>GTA	p.E505V	TBC1D16_uc002jxh.2_Missense_Mutation_p.E143V|TBC1D16_uc002jxi.2_Missense_Mutation_p.E130V|TBC1D16_uc002jxk.1_Missense_Mutation_p.E143V	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	505	Rab-GAP TBC.					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)			GGGATTGTCTTCCCCCCGGAA	0.567000												
EPB41L3	23136	broad.mit.edu	37	18	5419826	5419826	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr18:5419826A>C	uc002kmt.1	-	12	1476	c.1390T>G	c.(1390-1392)TTG>GTG	p.L464V	EPB41L3_uc010wzh.1_Missense_Mutation_p.L482V|EPB41L3_uc002kmu.1_Missense_Mutation_p.L482V|EPB41L3_uc010dkq.1_Missense_Mutation_p.L373V|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.L43V	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	464	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTGGTGATCAAGTTGGTCTGA	0.328000												
C18orf34	374864	broad.mit.edu	37	18	30672862	30672862	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr18:30672862C>G	uc002kxn.2	-	20	2393	c.2251G>C	c.(2251-2253)GAT>CAT	p.D751H	C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc010xbr.1_Missense_Mutation_p.D751H|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.D713H|C18orf34_uc002kxp.2_Missense_Mutation_p.D751H	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	751										ovary(1)	1						TCAAGTGAATCAGCTATTATT	0.244000												
SERPINB3	6317	broad.mit.edu	37	18	61323110	61323110	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr18:61323110G>A	uc002lji.2	-	8	1098	c.954C>T	c.(952-954)ACC>ACT	p.T318T	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Silent_p.T266T	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	318					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CGCGGCTCCCGGTCATGCCTG	0.547000												
DSEL	92126	broad.mit.edu	37	18	65180418	65180418	+	Silent	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr18:65180418A>C	uc002lke.1	-	2	2682	c.1458T>G	c.(1456-1458)ACT>ACG	p.T486T		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	476						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				TGGGGGCAAAAGTAAATGAGT	0.438000												
TNFSF14	8740	broad.mit.edu	37	19	6665138	6665138	+	Silent	SNP	G	G	A	rs141976417	byFrequency	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:6665138G>A	uc002mfk.1	-	5	904	c.522C>T	c.(520-522)CCC>CCT	p.P174P	TNFSF14_uc002mfj.1_Silent_p.P138P	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	174	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1						CCAGCTCCTCGGGGTAGCGGG	0.672000												
ARHGEF18	23370	broad.mit.edu	37	19	7505323	7505323	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:7505323G>T	uc002mgi.2	+	1	750	c.497G>T	c.(496-498)GGT>GTT	p.G166V	ARHGEF18_uc010xjm.1_Missense_Mutation_p.G8V|ARHGEF18_uc002mgh.2_Missense_Mutation_p.G8V	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	166					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				CAGAAAGGGGGTCCCCAGCCA	0.692000												
ATG4D	84971	broad.mit.edu	37	19	10657622	10657622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:10657622C>T	uc002mov.2	+	4	721	c.601C>T	c.(601-603)CAG>TAG	p.Q201*	ATG4D_uc010xlg.1_Nonsense_Mutation_p.Q224*|ATG4D_uc010xlh.1_Nonsense_Mutation_p.Q138*|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	201					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACGCTGGGCCCAGGGTGCCCC	0.721000												
QTRT1	81890	broad.mit.edu	37	19	10812361	10812361	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:10812361C>G	uc002mpr.2	+	1	250	c.225C>G	c.(223-225)TAC>TAG	p.Y75*		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	75					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GCAATACCTACCATCTGGGTC	0.682000												
NWD1	284434	broad.mit.edu	37	19	16918918	16918918	+	Missense_Mutation	SNP	C	C	T	rs147984852	byFrequency	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:16918918C>T	uc002neu.3	+	18	4680	c.4258C>T	c.(4258-4260)CGC>TGC	p.R1420C	NWD1_uc002net.3_Missense_Mutation_p.R1285C|NWD1_uc002nev.3_Missense_Mutation_p.R1214C			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1420	WD 12.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CCTGCAGGCACGCAAGTGGAA	0.577000												
PIK3R2	5296	broad.mit.edu	37	19	18280081	18280081	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:18280081G>A	uc002nia.1	+	16	2676	c.2164G>A	c.(2164-2166)GGC>AGC	p.G722S	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	722					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						cccgggccccggcccgccgcc	0.592000												
ZNF536	9745	broad.mit.edu	37	19	30935611	30935611	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:30935611G>A	uc002nsu.1	+	2	1280	c.1142G>A	c.(1141-1143)CGC>CAC	p.R381H	ZNF536_uc010edd.1_Missense_Mutation_p.R381H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	381	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGCGGCCGGCGCTTCAAGGAG	0.602000												
LGI4	163175	broad.mit.edu	37	19	35616357	35616357	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:35616357C>T	uc002nxx.2	-	9	1948	c.1354G>A	c.(1354-1356)GGT>AGT	p.G452S	LGI4_uc002nxy.1_Missense_Mutation_p.G280S|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	452	EAR 4.					extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACGTGGGCACCGCGCGAGGGA	0.662000												
CEACAM1	634	broad.mit.edu	37	19	43026105	43026105	+	Missense_Mutation	SNP	C	C	A	rs139266169	byFrequency	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:43026105C>A	uc002otv.2	-	3	787	c.674G>T	c.(673-675)CGC>CTC	p.R225L	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Missense_Mutation_p.R225L|CEACAM1_uc010eij.2_Missense_Mutation_p.R225L|CEACAM1_uc002otx.2_Missense_Mutation_p.R225L|CEACAM1_uc002oty.2_Missense_Mutation_p.R225L|CEACAM1_uc002otz.2_Missense_Mutation_p.R225L|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.R225L|CEACAM1_uc002oub.2_Missense_Mutation_p.R225L|CEACAM1_uc002ouc.2_Missense_Mutation_p.R225L	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	225	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGGGTCACTGCGGTTCGCACT	0.552000												
LIG1	3978	broad.mit.edu	37	19	48660279	48660279	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:48660279C>T	uc002pia.1	-	5	482	c.362G>A	c.(361-363)CGT>CAT	p.R121H	LIG1_uc010xze.1_5'Flank|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R121H|LIG1_uc010xzg.1_Missense_Mutation_p.R91H|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	121					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACCTGTGCGACGCTTCGGAAT	0.463000								NER				
PLEKHA4	57664	broad.mit.edu	37	19	49364712	49364712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:49364712G>T	uc002pkx.2	-	5	863	c.312C>A	c.(310-312)TAC>TAA	p.Y104*	PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Nonsense_Mutation_p.Y104*	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	104	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTCTAATATTGTAGCTGGGGA	0.612000												
ZNF473	25888	broad.mit.edu	37	19	50549550	50549550	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:50549550G>A	uc002prn.2	+	5	2087	c.1850G>A	c.(1849-1851)AGG>AAG	p.R617K	ZNF473_uc002prm.2_Missense_Mutation_p.R617K|ZNF473_uc010ybo.1_Missense_Mutation_p.R605K	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	617					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCTAGAGTGAGGCTGTATAAA	0.483000												
RPL28	6158	broad.mit.edu	37	19	55897997	55897997	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr19:55897997G>C	uc002qkv.2	+	3	183	c.141G>C	c.(139-141)AAG>AAC	p.K47N	uc002qku.2_5'Flank|RPL28_uc010yfz.1_Missense_Mutation_p.K47N|RPL28_uc010yfy.1_Missense_Mutation_p.K47N|RPL28_uc010yga.1_Missense_Mutation_p.K47N|RPL28_uc010ygb.1_Missense_Mutation_p.K47N|RPL28_uc002qkw.1_Missense_Mutation_p.K47N	NM_000991	NP_000982	P46779	RL28_HUMAN	ribosomal protein L28 isoform 2	47					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		TTCACCGCAAGACTGTGGGCG	0.597000												
TPO	7173	broad.mit.edu	37	2	1488374	1488374	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:1488374A>T	uc002qww.2	+	9	1436	c.1345A>T	c.(1345-1347)ACC>TCC	p.T449S	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.T449S|TPO_uc002qwr.2_Missense_Mutation_p.T449S|TPO_uc002qwx.2_Missense_Mutation_p.T449S|TPO_uc010yio.1_Missense_Mutation_p.T276S|TPO_uc010yip.1_Missense_Mutation_p.T449S|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	449	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAGATCATCACCCTGAGGGA	0.582000												
CDKL4	344387	broad.mit.edu	37	2	39417521	39417521	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:39417521C>G	uc002rrm.2	-	5	577	c.577G>C	c.(577-579)GAG>CAG	p.E193Q	CDKL4_uc010fal.1_Missense_Mutation_p.E193Q	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	193	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				GTCAGGAGCTCTGCAAAAACA	0.438000												
LRPPRC	10128	broad.mit.edu	37	2	44171034	44171034	+	Splice_Site	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:44171034C>T	uc002rtr.2	-	23	2355	c.2297_splice	c.e23-1	p.D766_splice	LRPPRC_uc010yob.1_Splice_Site_p.D666_splice	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTAATAGCATCTACAATGAAG	0.368000												
NRXN1	9378	broad.mit.edu	37	2	50765687	50765687	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:50765687C>A	uc010fbq.2	-	10	3444	c.1967G>T	c.(1966-1968)GGG>GTG	p.G656V	NRXN1_uc002rxb.3_Missense_Mutation_p.G288V|NRXN1_uc002rxe.3_Missense_Mutation_p.G616V|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	220	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGCAGCCCCCCCAGGTACAA	0.517000												
ZNF2	7549	broad.mit.edu	37	2	95847715	95847715	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:95847715A>G	uc002suf.2	+	6	1601	c.1139A>G	c.(1138-1140)CAG>CGG	p.Q380R	ZNF2_uc002sug.2_Missense_Mutation_p.Q338R|ZNF2_uc010yue.1_Missense_Mutation_p.Q343R|ZNF2_uc010fhs.2_Missense_Mutation_p.Q301R	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	380	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GCCTTTAGCCAGCGGTGCCGG	0.507000												
VWA3B	200403	broad.mit.edu	37	2	98797648	98797648	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:98797648G>A	uc002syo.2	+	9	1548	c.1284G>A	c.(1282-1284)CCG>CCA	p.P428P	VWA3B_uc010yvh.1_Silent_p.P278P|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.P428P|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.P85P	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	428										ovary(3)|large_intestine(2)|skin(1)	6						AAGCCAAACCGGAGAATGAGT	0.572000												
CNTNAP5	129684	broad.mit.edu	37	2	125405518	125405518	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:125405518G>A	uc002tno.2	+	13	2421	c.2057G>A	c.(2056-2058)CGC>CAC	p.R686H	CNTNAP5_uc010flu.2_Missense_Mutation_p.R687H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	686	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGAGGTCCCGCCTGCTCAAC	0.587000												
GYPC	2995	broad.mit.edu	37	2	127451461	127451461	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:127451461G>T	uc002tnq.2	+	3	284	c.128G>T	c.(127-129)GGA>GTA	p.G43V	GYPC_uc002tnr.2_Missense_Mutation_p.G24V|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	43	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		GGGATGTCTGGATGGCCGGAT	0.552000												
NCKAP5	344148	broad.mit.edu	37	2	133539527	133539527	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:133539527C>T	uc002ttp.2	-	14	5231	c.4857G>A	c.(4855-4857)ACG>ACA	p.T1619T	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1619							protein binding				0						TCAAGAGTTCCGTCATGAAGG	0.443000												
NCKAP5	344148	broad.mit.edu	37	2	133541938	133541938	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:133541938G>A	uc002ttp.2	-	14	2820	c.2446C>T	c.(2446-2448)CTA>TTA	p.L816L	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	816							protein binding				0						GGCTCCATTAGTTTTGATTTC	0.478000												
ZRANB3	84083	broad.mit.edu	37	2	136261984	136261984	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:136261984G>A	uc002tum.2	-	2	193	c.76C>T	c.(76-78)CTG>TTG	p.L26L	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Silent_p.L26L|ZRANB3_uc002tun.1_Intron	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	26						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		AAAAAATCCAGCAGATTATCA	0.363000												
LRP1B	53353	broad.mit.edu	37	2	141214085	141214085	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:141214085G>T	uc002tvj.1	-	62	10874	c.9902C>A	c.(9901-9903)CCC>CAC	p.P3301H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3301	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)		GAAGTTAGTGGGACATGCACA	0.438000										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141598520	141598520	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:141598520T>G	uc002tvj.1	-	30	6053	c.5081A>C	c.(5080-5082)AAG>ACG	p.K1694T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1694	Extracellular (Potential).|LDL-receptor class B 15.				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)		ACACTGTGGCTTATCGATTCC	0.353000										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141806634	141806634	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:141806634G>A	uc002tvj.1	-	11	2682	c.1710C>T	c.(1708-1710)ATC>ATT	p.I570I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	570	Extracellular (Potential).|LDL-receptor class B 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGCAAAGTAGATGTAATTGG	0.423000										TSP Lung(27;0.18)		
MBD5	55777	broad.mit.edu	37	2	149267699	149267699	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:149267699G>T	uc002twm.3	+	14	5396	c.4408G>T	c.(4408-4410)GGG>TGG	p.G1470W	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G1470W|MBD5_uc002two.2_Missense_Mutation_p.G728W|MBD5_uc002twp.2_Missense_Mutation_p.G520W	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1470						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAAAATGTCTGGGACTGTAAG	0.328000												
FAP	2191	broad.mit.edu	37	2	163055300	163055300	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:163055300C>T	uc002ucd.2	-	16	1577	c.1369G>A	c.(1369-1371)GAC>AAC	p.D457N	FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.D432N|FAP_uc010fpd.2_5'UTR	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	457	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						TTGGCGTAGTCGCTGAAACTT	0.468000												
SCN2A	6326	broad.mit.edu	37	2	166179886	166179886	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:166179886C>T	uc002udc.2	+	12	2182	c.1892C>T	c.(1891-1893)GCC>GTC	p.A631V	SCN2A_uc002udd.2_Missense_Mutation_p.A631V|SCN2A_uc002ude.2_Missense_Mutation_p.A631V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	631					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GCCAGCCGTGCCTCCAGGGTG	0.602000												
TTN	7273	broad.mit.edu	37	2	179413258	179413258	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:179413258G>T	uc010zfg.1	-	288	85615	c.85391C>A	c.(85390-85392)TCT>TAT	p.S28464Y	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22159Y|TTN_uc010zfi.1_Missense_Mutation_p.S22092Y|TTN_uc010zfj.1_Missense_Mutation_p.S21967Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29391							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)			CAATGTAGCAGATCCCCGGGT	0.507000												
TTN	7273	broad.mit.edu	37	2	179468710	179468710	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:179468710C>T	uc010zfg.1	-	231	47224	c.47000G>A	c.(46999-47001)CGT>CAT	p.R15667H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9362H|TTN_uc010zfi.1_Missense_Mutation_p.R9295H|TTN_uc010zfj.1_Missense_Mutation_p.R9170H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16594							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)			TTCAAGCAAACGAGGAACATT	0.468000												
ZNF804A	91752	broad.mit.edu	37	2	185803671	185803671	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:185803671C>A	uc002uph.2	+	4	4142	c.3548C>A	c.(3547-3549)GCT>GAT	p.A1183D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1183						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AGCCATCTGGCTTTCCCATCT	0.502000												
DNAH7	56171	broad.mit.edu	37	2	196699053	196699053	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:196699053G>T	uc002utj.3	-	48	9078	c.8977C>A	c.(8977-8979)CCT>ACT	p.P2993T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2993	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGACTTTGAGGATCTATCATC	0.393000												
ZNF142	7701	broad.mit.edu	37	2	219509337	219509337	+	Silent	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:219509337T>G	uc002vin.2	-	8	2338	c.1902A>C	c.(1900-1902)TCA>TCC	p.S634S	ZNF142_uc002vil.2_Silent_p.S595S|ZNF142_uc010fvt.2_Silent_p.S471S|ZNF142_uc002vim.2_Silent_p.S471S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGGTCGGGCTGACAGCTGGT	0.637000												
SPEG	10290	broad.mit.edu	37	2	220349010	220349010	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:220349010C>T	uc010fwg.2	+	30	6825	c.6825C>T	c.(6823-6825)CAC>CAT	p.H2275H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2275	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAAGCCCCACGCTGCTGTCT	0.706000												
FAM124B	79843	broad.mit.edu	37	2	225266120	225266120	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:225266120C>T	uc002vnx.2	-	1	592	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q	FAM124B_uc002vnw.2_Silent_p.Q122Q	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	122							protein binding	p.Q122*(1)		ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGATGGGCAGCTGACTGTCCA	0.562000												
CAPN10	11132	broad.mit.edu	37	2	241534098	241534098	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:241534098G>C	uc002vzk.1	+	6	1153	c.969G>C	c.(967-969)GAG>GAC	p.E323D	CAPN10_uc010zoh.1_Missense_Mutation_p.E323D|CAPN10_uc002vzl.1_Missense_Mutation_p.E323D|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.E195D|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	323	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CGGTCACGGAGGCCGGCCACC	0.662000												
XKR7	343702	broad.mit.edu	37	20	30584798	30584798	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:30584798G>A	uc002wxe.2	+	3	1452	c.1278G>A	c.(1276-1278)GCG>GCA	p.A426A		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	426	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCTTTGCGCTGGGCATAT	0.582000												
MYH7B	57644	broad.mit.edu	37	20	33584184	33584184	+	Missense_Mutation	SNP	C	C	A	rs147249013	by1000genomes	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:33584184C>A	uc002xbi.1	+	27	3197	c.3105C>A	c.(3103-3105)GAC>GAA	p.D1035E		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	993	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGCGCTGGACGAGTCAGTGG	0.672000												
SAMHD1	25939	broad.mit.edu	37	20	35521394	35521394	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:35521394T>C	uc002xgh.1	-	16	1952	c.1822A>G	c.(1822-1824)ACT>GCT	p.T608A	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	608					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				CGGAGGCGAGTTGGATTTTGG	0.433000												
RBL1	5933	broad.mit.edu	37	20	35663900	35663900	+	Silent	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:35663900A>G	uc002xgi.2	-	15	1994	c.1915T>C	c.(1915-1917)TTG>CTG	p.L639L	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.L639L	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	639	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				ATTGGAGACAATGGTTGCATA	0.303000												
AURKA	6790	broad.mit.edu	37	20	54948571	54948571	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:54948571C>T	uc002xxd.1	-	9	1313	c.747G>A	c.(745-747)TCG>TCA	p.S249S	AURKA_uc002xxe.1_Silent_p.S249S|AURKA_uc002xxf.1_Silent_p.S249S|AURKA_uc002xxg.1_Silent_p.S249S|AURKA_uc002xxh.1_Silent_p.S249S|AURKA_uc002xxi.1_Silent_p.S249S|AURKA_uc002xxj.1_Silent_p.S249S|AURKA_uc002xxk.1_Silent_p.S249S|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	249	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			TAACTCTCTTCGAATGACAGT	0.338000												
TFAP2C	7022	broad.mit.edu	37	20	55212788	55212788	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr20:55212788C>A	uc002xya.2	+	7	1315	c.1072C>A	c.(1072-1074)CTG>ATG	p.L358M	TFAP2C_uc010zzi.1_Missense_Mutation_p.L189M	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	358	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			TCACAGGCAACTGTGTAAAGA	0.537000												
SEPT3	55964	broad.mit.edu	37	22	42390313	42390313	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr22:42390313T>A	uc003bbr.3	+	9	1023	c.885T>A	c.(883-885)TGT>TGA	p.C295*	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Nonsense_Mutation_p.C295*|SEPT3_uc010gyr.2_Nonsense_Mutation_p.C231*|SEPT3_uc011apj.1_Nonsense_Mutation_p.C231*|SEPT3_uc010gys.2_Nonsense_Mutation_p.C75*	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	295					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						TCAACCACTGTGAGTTTGCCC	0.428000												
FGD5	152273	broad.mit.edu	37	3	14964574	14964574	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:14964574C>T	uc003bzc.2	+	16	3939	c.3829C>T	c.(3829-3831)CGG>TGG	p.R1277W	FGD5_uc011avk.1_Missense_Mutation_p.R1277W|FGD5_uc003bzd.2_Missense_Mutation_p.R355W	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1277	FYVE-type.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						GAACTGTTCGCGGAACAAGTA	0.632000												
KAT2B	8850	broad.mit.edu	37	3	20141402	20141402	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:20141402T>A	uc003cbq.2	+	4	1071	c.625T>A	c.(625-627)TCT>ACT	p.S209T		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	209					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGTTGAAGGCTCTTTGGAAAA	0.229000												
ZNF385D	79750	broad.mit.edu	37	3	21462840	21462840	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:21462840T>A	uc003cce.2	-	8	1462	c.1054A>T	c.(1054-1056)AGT>TGT	p.S352C		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	352						nucleus	nucleic acid binding|zinc ion binding	p.S352I(1)		large_intestine(2)|skin(2)|ovary(1)	5						AAGGGGGAACTCActgccact	0.433000												
ZCWPW2	152098	broad.mit.edu	37	3	28566142	28566142	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:28566142A>C	uc003ceh.2	+	10	1202	c.1034A>C	c.(1033-1035)AAA>ACA	p.K345T	ZCWPW2_uc003cei.2_Missense_Mutation_p.K345T|ZCWPW2_uc010hfo.2_Missense_Mutation_p.K150T	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	345							zinc ion binding			ovary(2)	2						ATAACTAATAAATTTAAAGAA	0.274000												
ARPP21	10777	broad.mit.edu	37	3	35763106	35763106	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:35763106A>T	uc003cgb.2	+	14	1269	c.1005A>T	c.(1003-1005)AGA>AGT	p.R335S	ARPP21_uc003cga.2_Missense_Mutation_p.R281S|ARPP21_uc011axy.1_Missense_Mutation_p.R301S|ARPP21_uc003cgf.2_Missense_Mutation_p.R136S|ARPP21_uc003cgg.2_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	335						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						GGGGCAACAGAGATGGCTCAG	0.532000												
TRAK1	22906	broad.mit.edu	37	3	42265201	42265201	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:42265201A>C	uc003cky.2	+	16	3050	c.2834A>C	c.(2833-2835)AAG>ACG	p.K945T	TRAK1_uc011azi.1_Missense_Mutation_p.K924T	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	945					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						ATGGGTGCTAAGCTCTCCAAA	0.582000												
DNAH1	25981	broad.mit.edu	37	3	52412796	52412796	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:52412796G>A	uc011bef.1	+	47	7638	c.7377G>A	c.(7375-7377)GAG>GAA	p.E2459E		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2459					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAAGGTCGAGGTGAGGACCA	0.627000												
DNASE1L3	1776	broad.mit.edu	37	3	58183574	58183574	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:58183574C>T	uc003djo.1	-	6	775	c.678G>A	c.(676-678)AAG>AAA	p.K226K	DNASE1L3_uc011bfd.1_Silent_p.K196K|DNASE1L3_uc003djp.1_Silent_p.K226K|DNASE1L3_uc003djq.1_Silent_p.K226K	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	226					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TGGTGCTCTTCTTCACCGTGG	0.557000												
EPHA3	2042	broad.mit.edu	37	3	89259476	89259476	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:89259476A>T	uc003dqy.2	+	3	845	c.620A>T	c.(619-621)AAG>ATG	p.K207M	EPHA3_uc003dqx.1_Missense_Mutation_p.K207M|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	207	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTACAGTGAAGAATCTGGCT	0.453000										TSP Lung(6;0.00050)		
EPHA6	285220	broad.mit.edu	37	3	96962916	96962916	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:96962916A>G	uc010how.1	+	5	1434	c.1391A>G	c.(1390-1392)AAG>AGG	p.K464R	EPHA6_uc003drp.1_Missense_Mutation_p.K464R	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	369	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GTAATCTGTAAGAAATGTGGC	0.448000												
IMPG2	50939	broad.mit.edu	37	3	100963573	100963573	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:100963573A>C	uc003duq.1	-	13	1805	c.1602T>G	c.(1600-1602)AGT>AGG	p.S534R	IMPG2_uc011bhe.1_Missense_Mutation_p.S397R	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	534	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAGTGAATGAACTTGAAGGCA	0.353000												
EPHB1	2047	broad.mit.edu	37	3	134967238	134967238	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:134967238C>A	uc003eqt.2	+	14	2797	c.2577C>A	c.(2575-2577)GAC>GAA	p.D859E	EPHB1_uc003equ.2_Missense_Mutation_p.D420E	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	859	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TCATGCTGGACTGTTGGCAGA	0.572000												
TRPC1	7220	broad.mit.edu	37	3	142524916	142524916	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:142524916C>T	uc003evc.2	+	13	2357	c.2221C>T	c.(2221-2223)CGT>TGT	p.R741C	TRPC1_uc003evb.2_Missense_Mutation_p.R707C	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	741					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						CCTAGTGCATCGTTACTTGAC	0.383000												
SR140	23350	broad.mit.edu	37	3	142769862	142769862	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:142769862G>C	uc003evh.1	+	25	2725	c.2626G>C	c.(2626-2628)GAA>CAA	p.E876Q	SR140_uc003evi.1_Missense_Mutation_p.E467Q|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.E875Q|SR140_uc003evl.1_Missense_Mutation_p.E443Q	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	876	Potential.|Glu-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						GGAGCAAGTAGAACACTACAG	0.323000												
P2RY13	53829	broad.mit.edu	37	3	151046713	151046713	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:151046713T>C	uc003eyv.2	-	2	152	c.131A>G	c.(130-132)CAG>CGG	p.Q44R	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	44	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GAATACCAGCTGTACTATCCG	0.507000												
MBNL1	4154	broad.mit.edu	37	3	152018069	152018069	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:152018069G>A	uc003ezm.2	+	1	876	c.87G>A	c.(85-87)CGG>CGA	p.R29R	MBNL1_uc003ezh.2_Silent_p.R29R|MBNL1_uc003ezi.2_Silent_p.R29R|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Silent_p.R29R|MBNL1_uc003ezp.2_Silent_p.R29R|MBNL1_uc003ezn.2_Silent_p.R29R|MBNL1_uc003ezo.2_Silent_p.R29R|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	29	C3H1-type 1.				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTGCTCACGGCCAGACACGG	0.428000												
BCHE	590	broad.mit.edu	37	3	165504095	165504095	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:165504095G>T	uc003fem.3	-	3	1682	c.1522C>A	c.(1522-1524)CCA>ACA	p.P508T	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	508					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTCTCATTTGGATTCCTAAAT	0.299000												
MECOM	2122	broad.mit.edu	37	3	168807857	168807858	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:168807857_168807858TC>AA	uc003ffi.3	-	14	3036_3037	c.2767_2768GA>TT	c.(2767-2769)GAA>TTA	p.E923L	MECOM_uc010hwk.1_Missense_Mutation_p.E937L|MECOM_uc003ffj.3_Missense_Mutation_p.E988L|MECOM_uc011bpi.1_Missense_Mutation_p.E915L|MECOM_uc003ffn.3_Missense_Mutation_p.E923L|MECOM_uc003ffk.2_Missense_Mutation_p.E914L|MECOM_uc003ffl.2_Missense_Mutation_p.E1074L|MECOM_uc011bpj.1_Missense_Mutation_p.E1111L|MECOM_uc011bpk.1_Missense_Mutation_p.E913L	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	923	Asp/Glu-rich (acidic).				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						AGGGTTTCCTTCATGTAAATTA	0.421000												
IGF2BP2	10644	broad.mit.edu	37	3	185393611	185393611	+	Silent	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr3:185393611T>C	uc003fpo.2	-	8	982	c.903A>G	c.(901-903)GAA>GAG	p.E301E	IGF2BP2_uc010hyi.2_Silent_p.E244E|IGF2BP2_uc010hyj.2_Silent_p.E238E|IGF2BP2_uc010hyk.2_Silent_p.E165E|IGF2BP2_uc010hyl.2_Silent_p.E238E|IGF2BP2_uc003fpp.2_Silent_p.E301E|IGF2BP2_uc003fpq.2_Silent_p.E306E	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	301	KH 2.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CTGTTTCATGTTCAATTTTCT	0.403000												
STK32B	55351	broad.mit.edu	37	4	5469777	5469777	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:5469777C>A	uc003gih.1	+	11	1150	c.1086C>A	c.(1084-1086)TTC>TTA	p.F362L	STK32B_uc010ida.1_Missense_Mutation_p.F315L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	362							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GGGAGGAATTCATCATATTCA	0.532000												
EVC2	132884	broad.mit.edu	37	4	5617239	5617239	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:5617239C>T	uc003gij.2	-	16	2793	c.2739G>A	c.(2737-2739)AAG>AAA	p.K913K	EVC2_uc011bwb.1_Silent_p.K353K|EVC2_uc003gik.2_Silent_p.K833K	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	913						integral to membrane				large_intestine(3)|ovary(2)	5						TGCTTTTACTCTTGGACCGTG	0.517000												
SLIT2	9353	broad.mit.edu	37	4	20493511	20493511	+	Silent	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:20493511C>A	uc003gpr.1	+	9	1107	c.903C>A	c.(901-903)ACC>ACA	p.T301T	SLIT2_uc003gps.1_Silent_p.T301T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	301	LRR 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						TTCCAGAGACCATCACAGAAA	0.458000												
GPR125	166647	broad.mit.edu	37	4	22425827	22425827	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:22425827T>G	uc003gqm.1	-	11	1857	c.1592A>C	c.(1591-1593)CAC>CCC	p.H531P	GPR125_uc010ieo.1_Missense_Mutation_p.H405P|GPR125_uc003gqn.1_Missense_Mutation_p.H305P|GPR125_uc003gqo.2_Missense_Mutation_p.H531P	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	531	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				TGAATAAACGTGAGCTCCACC	0.483000												
SEL1L3	23231	broad.mit.edu	37	4	25823632	25823632	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:25823632G>T	uc003gru.3	-	7	1428	c.1276C>A	c.(1276-1278)CTG>ATG	p.L426M		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	426						integral to membrane	binding				0						GCGGGGTGCAGACTGCGAAGG	0.532000												
LIMCH1	22998	broad.mit.edu	37	4	41691639	41691639	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:41691639T>A	uc003gvu.3	+	25	3164	c.3110T>A	c.(3109-3111)ATC>AAC	p.I1037N	LIMCH1_uc003gvv.3_Missense_Mutation_p.I1011N|LIMCH1_uc003gvw.3_Missense_Mutation_p.I1010N|LIMCH1_uc003gvx.3_Missense_Mutation_p.I1023N|LIMCH1_uc003gwe.3_Missense_Mutation_p.I934N|LIMCH1_uc003gvy.3_Missense_Mutation_p.I839N|LIMCH1_uc003gwa.3_Missense_Mutation_p.I851N|LIMCH1_uc003gvz.3_Missense_Mutation_p.I1421N|LIMCH1_uc011byu.1_Missense_Mutation_p.I870N|LIMCH1_uc003gwc.3_Missense_Mutation_p.I856N|LIMCH1_uc003gwd.3_Missense_Mutation_p.I844N|LIMCH1_uc011byv.1_Missense_Mutation_p.I787N|LIMCH1_uc011byw.1_Missense_Mutation_p.I310N	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	1037	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TATTTTCACATCCAGTGTTTC	0.453000												
GABRG1	2565	broad.mit.edu	37	4	46053588	46053588	+	Silent	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:46053588A>C	uc003gxb.2	-	8	1136	c.984T>G	c.(982-984)TCT>TCG	p.S328S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	328					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGTCACATAAGAAACCTTAG	0.373000												
TECRL	253017	broad.mit.edu	37	4	65275046	65275046	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:65275046G>A	uc003hcv.2	-	1	133	c.24C>T	c.(22-24)CTC>CTT	p.L8L	TECRL_uc003hcw.2_Silent_p.L8L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	8					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GTTCCGAAGCGAGGGACTTGT	0.393000												
UGT2B10	7365	broad.mit.edu	37	4	69696547	69696547	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:69696547T>A	uc003hee.2	+	6	1562	c.1537T>A	c.(1537-1539)TTT>ATT	p.F513I	UGT2B10_uc011cam.1_Missense_Mutation_p.F429I	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	513					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						GTGTTGTCTGTTTTGTTTCTG	0.418000												
SHROOM3	57619	broad.mit.edu	37	4	77662015	77662015	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:77662015G>A	uc011cbx.1	+	5	3642	c.2689G>A	c.(2689-2691)GAG>AAG	p.E897K	SHROOM3_uc011cbz.1_Missense_Mutation_p.E721K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E772K|SHROOM3_uc003hkg.2_Missense_Mutation_p.E675K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	897					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GCTCTCCAGCGAGCCAGAGAG	0.711000												
PDHA2	5161	broad.mit.edu	37	4	96761768	96761768	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:96761768A>C	uc003htr.3	+	1	530	c.467A>C	c.(466-468)AAG>ACG	p.K156T		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	156					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGTATACCAAGAACTTCTAT	0.507000												
ALPK1	80216	broad.mit.edu	37	4	113352097	113352097	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:113352097C>T	uc003iap.3	+	11	1673	c.1394C>T	c.(1393-1395)TCG>TTG	p.S465L	ALPK1_uc003ian.3_Missense_Mutation_p.S465L|ALPK1_uc011cfx.1_Missense_Mutation_p.S387L|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.S293L	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	465							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CACCATACTTCGGTGTGTGAA	0.388000												
ANK2	287	broad.mit.edu	37	4	114277998	114277998	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:114277998C>T	uc003ibe.3	+	38	8324	c.8224C>T	c.(8224-8226)CAT>TAT	p.H2742Y	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.H44Y|ANK2_uc011cgb.1_Missense_Mutation_p.H2757Y	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2709					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTGAATCCCATTTAGCTGA	0.413000												
PCDH18	54510	broad.mit.edu	37	4	138442387	138442387	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:138442387G>T	uc003ihe.3	-	4	3591	c.3204C>A	c.(3202-3204)AAC>AAA	p.N1068K	PCDH18_uc003ihf.3_Missense_Mutation_p.N1060K|PCDH18_uc011cgz.1_Missense_Mutation_p.N279K|PCDH18_uc003ihg.3_Missense_Mutation_p.N847K|PCDH18_uc011cha.1_Missense_Mutation_p.N248K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	1068	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					GCGGCCCACAGTTGGTGGTGG	0.542000												
TRIML2	205860	broad.mit.edu	37	4	189026046	189026046	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr4:189026046A>C	uc003izl.2	-	2	116	c.80T>G	c.(79-81)CTT>CGT	p.L27R	TRIML2_uc011cle.1_Missense_Mutation_p.L77R|TRIML2_uc011clf.1_Missense_Mutation_p.L77R	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	27	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGCTGCTTCAAGTTTCTCCCT	0.393000												
MARCH6	10299	broad.mit.edu	37	5	10377976	10377976	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:10377976C>T	uc003jet.1	+	2	269	c.86C>T	c.(85-87)ACT>ATT	p.T29I	MARCH6_uc011cmu.1_Missense_Mutation_p.T29I|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	29	Cytoplasmic (Potential).|RING-CH-type.				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TGTGTATGTACTGGCAGTATT	0.373000												
DNAH5	1767	broad.mit.edu	37	5	13762852	13762852	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:13762852G>C	uc003jfd.2	-	60	10302	c.10260C>G	c.(10258-10260)AAC>AAG	p.N3420K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3420	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GTACTTCTTTGTTTATAGAAA	0.483000									Kartagener_syndrome			
CDH12	1010	broad.mit.edu	37	5	21842417	21842417	+	Missense_Mutation	SNP	G	G	T	rs115178807	byFrequency	TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:21842417G>T	uc010iuc.2	-	5	1125	c.667C>A	c.(667-669)CCA>ACA	p.P223T	CDH12_uc011cno.1_Missense_Mutation_p.P183T|CDH12_uc003jgk.2_Missense_Mutation_p.P223T	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	223	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TCCATGTTTGGCAAAGCTGTT	0.353000										HNSCC(59;0.17)		
CDH10	1008	broad.mit.edu	37	5	24498608	24498608	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:24498608G>A	uc003jgr.1	-	9	1746	c.1414C>T	c.(1414-1416)CGC>TGC	p.R472C	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	472	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGCCACGCGTGTTGTCTCT	0.383000										HNSCC(23;0.051)		
UGT3A1	133688	broad.mit.edu	37	5	35957518	35957518	+	Silent	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:35957518A>G	uc003jjv.1	-	5	1004	c.847T>C	c.(847-849)TTG>CTG	p.L283L	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.L283L|UGT3A1_uc011cor.1_Silent_p.L249L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	283	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTTGTCCAAGTCCTAGAGA	0.458000												
PARP8	79668	broad.mit.edu	37	5	50120793	50120793	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:50120793C>T	uc003jon.3	+	19	2094	c.1912C>T	c.(1912-1914)CAT>TAT	p.H638Y	PARP8_uc011cpz.1_Missense_Mutation_p.H530Y|PARP8_uc003joo.2_Missense_Mutation_p.H638Y|PARP8_uc003jop.2_Missense_Mutation_p.H596Y	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	638	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				CCCCCTTGCTCATCCCTTACT	0.318000												
MAP1B	4131	broad.mit.edu	37	5	71492684	71492684	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:71492684T>A	uc003kbw.3	+	5	3743	c.3502T>A	c.(3502-3504)TCA>ACA	p.S1168T	MAP1B_uc010iyw.1_Missense_Mutation_p.S1185T|MAP1B_uc010iyx.1_Missense_Mutation_p.S1042T|MAP1B_uc010iyy.1_Missense_Mutation_p.S1042T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1168						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATATGAATCTTCATTGTATTC	0.423000												
ADAMTS19	171019	broad.mit.edu	37	5	128796134	128796134	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:128796134T>A	uc003kvb.1	+	1	32	c.32T>A	c.(31-33)CTC>CAC	p.L11H	ADAMTS19_uc003kvc.1_5'Flank	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	11					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCTGCTGCCTCCTTTACCAG	0.627000												
ADAMTS19	171019	broad.mit.edu	37	5	128984615	128984615	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:128984615A>C	uc003kvb.1	+	13	2110	c.2110A>C	c.(2110-2112)ACT>CCT	p.T704P	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	704	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAGTGTTAGAACTTCCTCCCC	0.438000												
PCDHB4	56131	broad.mit.edu	37	5	140503131	140503131	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:140503131G>A	uc003lip.1	+	1	1551	c.1551G>A	c.(1549-1551)TCG>TCA	p.S517S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	517	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAGGTCGCTGGACTACG	0.692000												
PCDHB8	56128	broad.mit.edu	37	5	140559571	140559571	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:140559571G>A	uc011dai.1	+	1	2142	c.1956G>A	c.(1954-1956)CCG>CCA	p.P652P	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	652	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCCTCCGTGCTCGGCCA	0.711000												
PCDHGA12	26025	broad.mit.edu	37	5	140812214	140812214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr5:140812214C>T	uc003lkt.1	+	1	2057	c.1888C>T	c.(1888-1890)CGA>TGA	p.R630*	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_Nonsense_Mutation_p.R630*	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	630	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)			GCGCACGGCGCGAGCCCTGCT	0.692000												
RREB1	6239	broad.mit.edu	37	6	7230602	7230602	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:7230602T>C	uc003mxc.2	+	10	2660	c.2270T>C	c.(2269-2271)CTG>CCG	p.L757P	RREB1_uc003mxb.2_Missense_Mutation_p.L757P|RREB1_uc010jnx.2_Missense_Mutation_p.L757P	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	757	C2H2-type 10.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTGTGCCGGCTGTGCGGCGAG	0.677000												
LRRC16A	55604	broad.mit.edu	37	6	25554282	25554282	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:25554282G>A	uc011djw.1	+	28	2926	c.2550G>A	c.(2548-2550)GTG>GTA	p.V850V	LRRC16A_uc010jpx.2_Silent_p.V850V|LRRC16A_uc010jpy.2_Silent_p.V850V|LRRC16A_uc003nfa.1_Silent_p.V204V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	850					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						ATAGAATTGTGGATGAAATCC	0.443000												
EHMT2	10919	broad.mit.edu	37	6	31855588	31855588	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:31855588C>T	uc003nxz.1	-	14	1906	c.1896G>A	c.(1894-1896)CTG>CTA	p.L632L	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.L423L|EHMT2_uc011don.1_Silent_p.L655L|EHMT2_uc003nya.1_Silent_p.L598L	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	632					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GGGCCTTTTCCAGGGCCTCCC	0.657000												
COL11A2	1302	broad.mit.edu	37	6	33144777	33144777	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:33144777C>T	uc003ocx.1	-	25	2290	c.2062G>A	c.(2062-2064)GGA>AGA	p.G688R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G602R|COL11A2_uc003ocz.1_Missense_Mutation_p.G581R	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	688	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						ACCGGGGGTCCGTCTGAGCCA	0.602000												
DAAM2	23500	broad.mit.edu	37	6	39869751	39869751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:39869751C>T	uc003oow.2	+	25	3301	c.3145C>T	c.(3145-3147)CGA>TGA	p.R1049*	DAAM2_uc003oox.2_Nonsense_Mutation_p.R1048*	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	1049					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGCCGCAAGCGATCAGGGAG	0.612000												
RCAN2	10231	broad.mit.edu	37	6	46293235	46293235	+	Translation_Start_Site	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:46293235A>C	uc003oyb.1	-	1	297	c.-18T>G	c.(-20--16)ATTAA>ATGAA		RCAN2_uc003oyc.1_Intron|RCAN2_uc003oyd.1_Intron	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1						calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						CTGAATTTTTAATAAAGAGTT	0.532000												
KHDRBS2	202559	broad.mit.edu	37	6	62611269	62611269	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:62611269T>C	uc003peg.2	-	5	738	c.491A>G	c.(490-492)AAT>AGT	p.N164S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATTTCATCATTGTAGTCCTG	0.383000												
COL12A1	1303	broad.mit.edu	37	6	75804892	75804892	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:75804892T>C	uc003phs.2	-	60	8747	c.8581A>G	c.(8581-8583)AGC>GGC	p.S2861G	COL12A1_uc003pht.2_Missense_Mutation_p.S1697G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2861	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GAGCCTGGGCTTCCCTACAAC	0.473000												
ARHGAP18	93663	broad.mit.edu	37	6	129963162	129963162	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:129963162G>A	uc003qbr.2	-	2	204	c.115C>T	c.(115-117)CGC>TGC	p.R39C	ARHGAP18_uc011ebw.1_Missense_Mutation_p.R39C	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	39					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CCATATCTGCGACTGTAAATT	0.383000												
CTGF	1490	broad.mit.edu	37	6	132271583	132271583	+	Silent	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:132271583C>A	uc003qcz.2	-	3	596	c.390G>T	c.(388-390)GCG>GCT	p.A130A		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	130	VWFC.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TGCAGCCCACCGCCCCGTCCA	0.642000											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AKAP12	9590	broad.mit.edu	37	6	151671390	151671390	+	Missense_Mutation	SNP	C	C	T	rs143476871		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr6:151671390C>T	uc011eep.1	+	4	2104	c.1864C>T	c.(1864-1866)CGT>TGT	p.R622C	AKAP12_uc003qoe.2_Missense_Mutation_p.R622C|AKAP12_uc003qof.2_Missense_Mutation_p.R524C|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.R517C	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	622	AKAP 1.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCCCAAGAAGCGTGTTAGACG	0.498000												
C7orf27	221927	broad.mit.edu	37	7	2577735	2577735	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:2577735A>T	uc003smi.2	-	14	2476	c.2434T>A	c.(2434-2436)TTC>ATC	p.F812I	C7orf27_uc003smh.3_Missense_Mutation_p.F244I	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	812					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		CCCTGCAGGAAGCCTCCCGTG	0.652000												
DNAH11	8701	broad.mit.edu	37	7	21654730	21654730	+	Splice_Site	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:21654730A>T	uc003svc.2	+	21	3884	c.3853_splice	c.e21-2	p.A1285_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TTCTCTCCTTAGGCAAATGAA	0.388000									Kartagener_syndrome			
HECW1	23072	broad.mit.edu	37	7	43483913	43483913	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:43483913G>A	uc003tid.1	+	11	1747	c.1142G>A	c.(1141-1143)CGG>CAG	p.R381Q	HECW1_uc011kbi.1_Missense_Mutation_p.R381Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	381					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GGGGAACCTCGGTCTGAGGCA	0.572000												
PCLO	27445	broad.mit.edu	37	7	82764559	82764559	+	Silent	SNP	T	T	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:82764559T>A	uc003uhx.2	-	3	2596	c.2307A>T	c.(2305-2307)TCA>TCT	p.S769S	PCLO_uc003uhv.2_Silent_p.S769S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	715	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTGCTGATGATGAAGATACAA	0.458000												
ABCB4	5244	broad.mit.edu	37	7	87056199	87056199	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:87056199A>T	uc003uiv.1	-	16	2007	c.1931T>A	c.(1930-1932)CTA>CAA	p.L644Q	ABCB4_uc003uiw.1_Missense_Mutation_p.L644Q|ABCB4_uc003uix.1_Missense_Mutation_p.L644Q	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	644	Cytoplasmic (By similarity).|Interaction with HAX1 (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)					TTCATCATTTAGTTCAAATTC	0.313000												
TRRAP	8295	broad.mit.edu	37	7	98569468	98569468	+	Missense_Mutation	SNP	C	C	T	rs76587346		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:98569468C>T	uc003upp.2	+	52	7927	c.7718C>T	c.(7717-7719)ACG>ATG	p.T2573M	TRRAP_uc011kis.1_Missense_Mutation_p.T2555M|TRRAP_uc003upr.2_Missense_Mutation_p.T2272M	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2573					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGACCAGCACGCCCAAAACC	0.468000												
CUX1	1523	broad.mit.edu	37	7	101839972	101839972	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:101839972G>A	uc003uyx.3	+	15	1319	c.1281G>A	c.(1279-1281)CCG>CCA	p.P427P	CUX1_uc003uys.3_Silent_p.P438P|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	427					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						GATCTTTGCCGGCCCCCCCTC	0.562000												
SLC35B4	84912	broad.mit.edu	37	7	133984324	133984324	+	Silent	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:133984324G>A	uc003vrn.2	-	8	948	c.624C>T	c.(622-624)GTC>GTT	p.V208V	SLC35B4_uc010lmk.2_Silent_p.V72V|SLC35B4_uc010lml.1_Silent_p.V140V|SLC35B4_uc003vro.3_Silent_p.V208V	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	208	Helical; (Potential).					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			skin(1)	1						AAGCCAAGAAGACGAAACCCG	0.388000												
NUP205	23165	broad.mit.edu	37	7	135307657	135307657	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr7:135307657G>A	uc003vsw.2	+	31	4494	c.4463G>A	c.(4462-4464)GGT>GAT	p.G1488D	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1488					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GCTTGTGATGGTCATGAGATT	0.338000												
CSMD1	64478	broad.mit.edu	37	8	3565996	3565996	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:3565996A>C	uc011kwk.1	-	7	1339	c.949T>G	c.(949-951)TTG>GTG	p.L317V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	317	Extracellular (Potential).					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)		CTTGACTTCAACTCAATCGCC	0.443000												
DLC1	10395	broad.mit.edu	37	8	12958130	12958130	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:12958130C>T	uc003wwm.2	-	9	2160	c.1716G>A	c.(1714-1716)CCG>CCA	p.P572P	DLC1_uc003wwk.1_Silent_p.P135P|DLC1_uc003wwl.1_Silent_p.P169P|DLC1_uc011kxx.1_Silent_p.P61P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	572					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GGCCGTCCTTCGGGTGGGAGT	0.632000												
PENK	5179	broad.mit.edu	37	8	57354352	57354352	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:57354352A>T	uc003xsz.2	-	2	364	c.283T>A	c.(283-285)TTG>ATG	p.L95M	PENK_uc003xta.3_Missense_Mutation_p.L95M	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	95					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTGGCTAGCAAATGGCTTTCT	0.493000												
ZFHX4	79776	broad.mit.edu	37	8	77767850	77767850	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:77767850G>A	uc003yav.2	+	10	8945	c.8558G>A	c.(8557-8559)CGC>CAC	p.R2853H	ZFHX4_uc003yau.1_Missense_Mutation_p.R2898H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2853H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2853						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGCCGACCGCAGCGAAACG	0.512000										HNSCC(33;0.089)		
CNBD1	168975	broad.mit.edu	37	8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:88365898T>G	uc003ydy.2	+	10	1235	c.1187T>G	c.(1186-1188)CTT>CGT	p.L396R		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396	cNMP.									ovary(3)	3						ATGGGGAAACTTAAGGAGAAG	0.323000												
NBN	4683	broad.mit.edu	37	8	90993671	90993671	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:90993671C>A	uc003yej.1	-	3	362	c.252G>T	c.(250-252)CAG>CAT	p.Q84H	NBN_uc003yei.1_Missense_Mutation_p.Q2H|NBN_uc011lgb.1_Missense_Mutation_p.Q84H	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	84					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAAAGCCATTCTGCATTTTTT	0.318000								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome			
RIMS2	9699	broad.mit.edu	37	8	104898096	104898096	+	Silent	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:104898096T>C	uc003yls.2	+	2	844	c.603T>C	c.(601-603)TCT>TCC	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478000										HNSCC(12;0.0054)		
CSMD3	114788	broad.mit.edu	37	8	113275955	113275955	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:113275955A>T	uc003ynu.2	-	61	9934	c.9775T>A	c.(9775-9777)TGT>AGT	p.C3259S	CSMD3_uc003yns.2_Missense_Mutation_p.C2461S|CSMD3_uc003ynt.2_Missense_Mutation_p.C3219S|CSMD3_uc011lhx.1_Missense_Mutation_p.C3090S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3259	Sushi 25.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCTGGAGAACAGATGTAGCTA	0.463000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
MED30	90390	broad.mit.edu	37	8	118543004	118543004	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:118543004G>A	uc003yoj.2	+	3	530	c.379G>A	c.(379-381)GAT>AAT	p.D127N	MED30_uc011lib.1_Intron	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	127					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			AAAGAATGATGATCGGGCTGG	0.338000												
MYC	4609	broad.mit.edu	37	8	128751076	128751076	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr8:128751076G>C	uc003ysi.2	+	2	1138	c.613G>C	c.(613-615)GAC>CAC	p.D205H		NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	190					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AGAGTGCATCGACCCCTCGGT	0.657000		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BNC2	54796	broad.mit.edu	37	9	16436469	16436469	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr9:16436469T>G	uc003zml.2	-	6	1863	c.1723A>C	c.(1723-1725)AGT>CGT	p.S575R	BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGAGTAAACTTCTATAAAAT	0.517000												
ASTN2	23245	broad.mit.edu	37	9	119903650	119903650	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr9:119903650G>A	uc004bjs.1	-	4	1224	c.1123C>T	c.(1123-1125)CGC>TGC	p.R375C	ASTN2_uc004bjr.1_Missense_Mutation_p.R375C|ASTN2_uc004bjt.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	375	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GATGTGCTGCGCAGGGGTGGT	0.587000												
SETX	23064	broad.mit.edu	37	9	135201772	135201772	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr9:135201772T>G	uc004cbk.2	-	10	5396	c.5213A>C	c.(5212-5214)CAC>CCC	p.H1738P	SETX_uc004cbj.2_Missense_Mutation_p.H1357P|SETX_uc010mzt.2_Missense_Mutation_p.H1357P	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1738					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCCATAATTGTGAAATCTGAC	0.353000												
SHROOM2	357	broad.mit.edu	37	X	9863306	9863306	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:9863306A>G	uc004csu.1	+	4	1448	c.1358A>G	c.(1357-1359)CAG>CGG	p.Q453R		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	453					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GCCAGCTTCCAGAACGACAGC	0.667000												
TLR8	51311	broad.mit.edu	37	X	12937481	12937481	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:12937481G>A	uc004cve.2	+	2	390	c.322G>A	c.(322-324)GGT>AGT	p.G108S	TLR8_uc004cvd.2_Missense_Mutation_p.G126S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	108	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						CGGAAATCCCGGTATACAATC	0.413000												
XK	7504	broad.mit.edu	37	X	37587421	37587421	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:37587421C>T	uc004ddq.2	+	3	1123	c.1041C>T	c.(1039-1041)TGC>TGT	p.C347C		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	347	Extracellular (Potential).			C->S: Loss of Kell-XK complex.	amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				TGTATGTGTGCGCACCTCTGT	0.448000												
TRO	7216	broad.mit.edu	37	X	54949399	54949399	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:54949399T>C	uc004dtq.2	+	3	541	c.434T>C	c.(433-435)GTT>GCT	p.V145A	TRO_uc011moj.1_Missense_Mutation_p.V88A|TRO_uc004dts.2_Missense_Mutation_p.V145A|TRO_uc004dtr.2_Missense_Mutation_p.V145A|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	145					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						ATGAAGAGAGTTACTGCCAAG	0.512000												
FAAH2	158584	broad.mit.edu	37	X	57473429	57473429	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:57473429C>G	uc004dvc.2	+	9	1334	c.1185C>G	c.(1183-1185)ATC>ATG	p.I395M		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	395						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						GGGAGTTGATCAAATGGTGCC	0.388000										HNSCC(52;0.14)		
ZXDA	7789	broad.mit.edu	37	X	57936570	57936570	+	Silent	SNP	C	C	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:57936570C>T	uc004dve.2	-	1	498	c.285G>A	c.(283-285)CCG>CCA	p.P95P		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	95					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CGCCACCCACCGGGTCAAGCA	0.731000												
VSIG4	11326	broad.mit.edu	37	X	65252408	65252408	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:65252408T>G	uc004dwh.2	-	3	723	c.596A>C	c.(595-597)AAG>ACG	p.K199T	VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.K199T|VSIG4_uc004dwj.2_Missense_Mutation_p.K199T|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.K199T|VSIG4_uc004dwl.2_Missense_Mutation_p.K95T	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	199	Ig-like 2.|Extracellular (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						CACCGCAGGCTTGAAGAGTAA	0.498000												
KIAA2022	340533	broad.mit.edu	37	X	73960013	73960013	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:73960013T>C	uc004eby.2	-	3	4996	c.4379A>G	c.(4378-4380)GAG>GGG	p.E1460G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1460					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CTTACATTTCTCATCTCTCAG	0.433000												
BHLHB9	80823	broad.mit.edu	37	X	102004035	102004035	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:102004035G>C	uc010nog.2	+	4	683	c.112G>C	c.(112-114)GCC>CCC	p.A38P	BHLHB9_uc011mrq.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrr.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrs.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrt.1_Missense_Mutation_p.A38P|BHLHB9_uc004ejo.2_Missense_Mutation_p.A38P|BHLHB9_uc011mru.1_Missense_Mutation_p.A38P|BHLHB9_uc011mrv.1_Missense_Mutation_p.A38P	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	38						cytoplasm|nucleus	binding			ovary(2)	2						TAGGCCTGTAGCCAAGACCAG	0.478000												
RIPPLY1	92129	broad.mit.edu	37	X	106146380	106146380	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:106146380T>G	uc004emr.1	-	1	182	c.138A>C	c.(136-138)GAA>GAC	p.E46D	MORC4_uc004emp.3_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.1_Missense_Mutation_p.E46D	NM_138382	NP_612391	Q0D2K3	RIPP1_HUMAN	ripply1 homolog	46					negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus					0						TCCCATTTACTTCTTGTCCAG	0.383000												
KLHL13	90293	broad.mit.edu	37	X	117079445	117079445	+	Silent	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:117079445T>G	uc004eql.2	-	2	254	c.192A>C	c.(190-192)GGA>GGC	p.G64G	KLHL13_uc004eqk.2_Silent_p.G13G|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Silent_p.G58G|KLHL13_uc011mtp.1_Silent_p.G66G|KLHL13_uc004eqm.2_Silent_p.G13G|KLHL13_uc011mtq.1_Silent_p.G48G	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	64					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						TGCGTGTAGGTCCTGCCTTGG	0.463000												
WDR44	54521	broad.mit.edu	37	X	117577561	117577561	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:117577561A>C	uc004eqn.2	+	18	2848	c.2423A>C	c.(2422-2424)AAG>ACG	p.K808T	WDR44_uc004eqo.2_Missense_Mutation_p.K800T|WDR44_uc011mtr.1_Missense_Mutation_p.K719T|WDR44_uc010nqi.2_Missense_Mutation_p.K518T	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	808	WD 6.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						TCAGAAGATAAGTATGTTTAT	0.358000												
GLUD2	2747	broad.mit.edu	37	X	120183118	120183118	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:120183118A>C	uc004eto.2	+	1	1657	c.1580A>C	c.(1579-1581)AAG>ACG	p.K527T		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	527					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)	ACAGCCATGAAGTATAACCTG	0.458000												
ODZ1	10178	broad.mit.edu	37	X	123554379	123554379	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:123554379G>T	uc004euj.2	-	24	4807	c.4743C>A	c.(4741-4743)AGC>AGA	p.S1581R	ODZ1_uc011muj.1_Missense_Mutation_p.S1587R|ODZ1_uc010nqy.2_Missense_Mutation_p.S1588R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1581	YD 2.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGCCATTGCTGCTGGTAATCG	0.493000												
SOX3	6658	broad.mit.edu	37	X	139586729	139586729	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:139586729T>G	uc004fbd.1	-	1	497	c.497A>C	c.(496-498)AAT>ACT	p.N166T		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	166	HMG box.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					GATCTCAGAATTGTGCATCTT	0.612000												
AFF2	2334	broad.mit.edu	37	X	148044287	148044287	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chrX:148044287A>C	uc004fcp.2	+	13	3212	c.2733A>C	c.(2731-2733)AAA>AAC	p.K911N	AFF2_uc004fcq.2_Missense_Mutation_p.K901N|AFF2_uc004fcr.2_Missense_Mutation_p.K872N|AFF2_uc011mxb.1_Missense_Mutation_p.K876N|AFF2_uc004fcs.2_Missense_Mutation_p.K878N|AFF2_uc011mxc.1_Missense_Mutation_p.K552N	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	911					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAAAAACTATTTCCTC	0.423000												
CCL20	6364	broad.mit.edu	37	2	228681080	228681081	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr2:228681080_228681081delAT	uc002vpl.2	+	3	319_320	c.249_250delAT	c.(247-252)AAATATfs	p.K83fs	CCL20_uc002vpm.2_Frame_Shift_Del_p.K82fs	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	83_84					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		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;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTTGGGTGAAATATATTGTGCG	0.401												
C1orf86	199990	broad.mit.edu	37	1	2125333	2125333	+	Frame_Shift_Del	DEL	G	G	-	rs138779739		TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr1:2125332_2125332CG>C	uc001aix.2	-	6	976	c.203_203CG>G	c.(202-204)cggfs	p.R68fs	C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Frame_Shift_Del_p.P72fs	NM_001146310	NP_001139782	Q6NZ36	CA086_HUMAN	Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA.	112										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGTGGGCTCCGGGCCGCACC	0.652												
CNTROB	116840	broad.mit.edu	37	17	7851480	7851483	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-CD-A48C-01A-11D-A24D-08	TCGA-CD-A48C-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2629acc1-8374-47d4-8533-291336e08829	1f4a9466-3d59-47c1-9092-32498e07a789	g.chr17:7851479_7851482TCTGA>T	uc002gjp.3	+	16	3164_3167	c.2214_2217TCTGA>T	c.(2212-2217)cctctgfs	p.P738fs	CNTROB_uc002gjq.3_Frame_Shift_Del_p.P738fs|CNTROB_uc002gjr.3_Frame_Shift_Del_p.P640fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	738	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGCTAGGTCCTCTGACTGTCCCAT	0.495												
