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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PLEKHN1	84069	broad.mit.edu	37	1	909868	909868	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:909868C>T	uc001ace.2	+	15	1940	c.1905C>T	c.(1903-1905)CTC>CTT	p.L635L	PLEKHN1_uc001acd.2_Silent_p.L583L|PLEKHN1_uc001acf.2_Silent_p.L548L	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	635											0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGACCACCTCTGGGACGAGA	0.647		NA											12	50					0	0	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528107	6528107	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:6528107C>T	uc001ano.1	-	21	3058	c.2957G>A	c.(2956-2958)CGA>CAA	p.R986Q	PLEKHG5_uc001ann.1_Missense_Mutation_p.R967Q|PLEKHG5_uc001anq.1_Intron|PLEKHG5_uc001anp.1_Missense_Mutation_p.R1007Q|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R491Q|PLEKHG5_uc009vma.1_Missense_Mutation_p.R770Q|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R999Q|PLEKHG5_uc001ank.1_Missense_Mutation_p.R930Q|PLEKHG5_uc009vmb.1_Intron|PLEKHG5_uc001anl.1_Missense_Mutation_p.R930Q|PLEKHG5_uc001anm.1_Missense_Mutation_p.R930Q|PLEKHG5_uc001anr.1_Missense_Mutation_p.R193Q	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	986					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGGGGCCCCTCGGCAATCCCA	0.697		NA											4	10					0	0	0	0
ZBTB48	3104	broad.mit.edu	37	1	6648384	6648384	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:6648384C>T	uc009vmc.1	+	9	1686	c.1563C>T	c.(1561-1563)TTC>TTT	p.F521F	ZBTB48_uc001anx.2_Silent_p.F521F|ZBTB48_uc009vmd.1_Silent_p.F521F|ZBTB48_uc001any.1_Silent_p.F159F	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	521	C2H2-type 9.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAAGGCCCTTCAGTTGCGAGT	0.642		NA											26	58					0	0	0	0
AADACL4	343066	broad.mit.edu	37	1	12726745	12726745	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12726745G>A	uc001auf.2	+	4	1223	c.1223G>A	c.(1222-1224)TGA>TAA	p.*408*		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	408						integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		AAGGGCATATGATAGTAACCC	0.438		NA											39	128					0	0	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835020	12835020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12835020C>T	uc001aui.2	+	1	37	c.10C>T	c.(10-12)CAG>TAG	p.Q4*		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	4										ovary(3)	3	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAGCCTCCAGGCCCCACC	0.542		NA											27	81					0	0	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855732	12855732	+	Missense_Mutation	SNP	G	G	A	rs139798913		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12855732G>A	uc001auj.1	+	4	1115	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	338	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)		CATCAGTCTTGAACCCCTCGG	0.522		NA											81	267					0	0	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884942	12884942	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12884942C>G	uc001auk.2	-	4	1365	c.1169G>C	c.(1168-1170)AGA>ACA	p.R390T		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	390											0						TTGAGCAAATCTGCTCCAGCA	0.498		NA											106	306					0	0	0	0
LOC649330	649330	broad.mit.edu	37	1	12908067	12908067	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12908067G>C	uc009vno.2	-	1	171	c.76C>G	c.(76-78)CTT>GTT	p.L26V	HNRNPCL1_uc010obf.1_Missense_Mutation_p.L26V	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	26							nucleic acid binding|nucleotide binding				0						TTGACAACAAGAGTGTTGAGA	0.443		NA											32	303					0	0	0	0
HSPB7	27129	broad.mit.edu	37	1	16344280	16344280	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:16344280G>A	uc001axo.2	-	1	1006	c.179C>T	c.(178-180)TCG>TTG	p.S60L	HSPB7_uc001axp.2_Missense_Mutation_p.S148L|HSPB7_uc001axq.2_Missense_Mutation_p.S148L|HSPB7_uc001axr.2_Missense_Mutation_p.S148L|HSPB7_uc001axs.2_Missense_Mutation_p.S135L|CLCNKA_uc001axt.2_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	60	Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGCTCCGAGTGGGGCCG	0.662		NA											11	19					0	0	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17961342	17961342	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:17961342G>C	uc001ban.2	+	18	1917	c.1758G>C	c.(1756-1758)GAG>GAC	p.E586D	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.E547D|ARHGEF10L_uc001bao.2_Missense_Mutation_p.E547D|ARHGEF10L_uc001bap.2_Missense_Mutation_p.E542D|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.E344D|ARHGEF10L_uc001baq.2_Missense_Mutation_p.E347D|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.E359D|ARHGEF10L_uc001bar.2_Missense_Mutation_p.E289D|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	586					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCAGCTGGAGATCAGCAGCC	0.672		NA											11	21					0	0	0	0
KIF17	57576	broad.mit.edu	37	1	21031010	21031010	+	Silent	SNP	G	G	A	rs76507805	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:21031010G>A	uc001bdr.3	-	5	1171	c.1053C>T	c.(1051-1053)CGC>CGT	p.R351R	KIF17_uc001bds.3_Silent_p.R351R	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	351	Potential.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTGGTACTCGCGAAGCAGCG	0.602		NA											15	65					0	0	0	0
CELA3A	10136	broad.mit.edu	37	1	22329569	22329569	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:22329569C>T	uc001bfl.2	+	2	136	c.117C>T	c.(115-117)AGC>AGT	p.S39S	CELA3B_uc009vqf.2_Intron	NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	39	Peptidase S1.				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						TCCCCTACAGCTGGCCCTGGC	0.597		NA											22	121					0	0	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637048	23637048	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:23637048G>C	uc001bgr.3	-	11	1960	c.1801C>G	c.(1801-1803)CAG>GAG	p.Q601E	HNRNPR_uc001bgo.2_Missense_Mutation_p.Q211E|HNRNPR_uc001bgp.3_Missense_Mutation_p.Q604E|HNRNPR_uc009vqk.2_Missense_Mutation_p.Q503E|HNRNPR_uc001bgs.3_Missense_Mutation_p.Q500E|HNRNPR_uc010odw.1_Missense_Mutation_p.Q563E|HNRNPR_uc010odx.1_Missense_Mutation_p.Q441E|HNRNPR_uc009vql.2_Missense_Mutation_p.Q462E	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	601	Asn/Gln-rich.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AGCGGCTGCTGAGCGATGGGT	0.478		NA											71	247					0	0	0	0
SRRM1	10250	broad.mit.edu	37	1	24995948	24995948	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:24995948C>G	uc001bjm.2	+	14	2298	c.2074C>G	c.(2074-2076)CAG>GAG	p.Q692E	SRRM1_uc010oel.1_Missense_Mutation_p.Q704E|SRRM1_uc009vrh.1_Missense_Mutation_p.Q665E|SRRM1_uc009vri.1_Missense_Mutation_p.Q621E	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	692	Pro-rich.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCGAGCTCCTCAGACCTCCTC	0.592		NA											11	34					0	0	0	0
ZNF683	257101	broad.mit.edu	37	1	26688267	26688267	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:26688267C>G	uc001bmg.1	-	7	1568	c.1450G>C	c.(1450-1452)GAG>CAG	p.E484Q	ZNF683_uc001bmh.1_Missense_Mutation_p.E464Q|ZNF683_uc009vsj.1_Missense_Mutation_p.E464Q	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ATGTGTTTCTCAGATGCCACC	0.602		NA											35	127					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27101074	27101074	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:27101074G>C	uc001bmv.1	+	18	4729	c.4356G>C	c.(4354-4356)CAG>CAC	p.Q1452H	ARID1A_uc001bmt.1_Missense_Mutation_p.Q1451H|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.Q1069H|ARID1A_uc001bmx.1_Missense_Mutation_p.Q298H|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1452					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGGCCCCCAGAACCAATTTC	0.587		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								4	159					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27101465	27101465	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:27101465C>T	uc001bmv.1	+	18	5120	c.4747C>T	c.(4747-4749)CCT>TCT	p.P1583S	ARID1A_uc001bmt.1_Missense_Mutation_p.P1582S|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.P1200S|ARID1A_uc001bmx.1_Missense_Mutation_p.P429S|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1583					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAATCACATTCCTCAGGTATC	0.602		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								40	75					0	0	0	0
PHACTR4	65979	broad.mit.edu	37	1	28806962	28806962	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:28806962G>A	uc001bpw.2	+	9	1889	c.1607_splice	c.e9-1	p.S536_splice	PHACTR4_uc001bpv.1_Splice_Site|PHACTR4_uc001bpx.2_Splice_Site_p.S520_splice|PHACTR4_uc001bpy.2_Splice_Site_p.S546_splice	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1								actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTGCAAAGGTGCTCTCGC	0.428		NA											20	88					0	0	0	0
PHACTR4	65979	broad.mit.edu	37	1	28807096	28807096	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:28807096G>C	uc001bpw.2	+	9	2022	c.1740G>C	c.(1738-1740)CAG>CAC	p.Q580H	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.Q564H|PHACTR4_uc001bpy.2_Missense_Mutation_p.Q590H	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	580							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TACGGCACCAGATTGGAAACA	0.418		NA											47	211					0	0	0	0
C1orf94	84970	broad.mit.edu	37	1	34667794	34667794	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:34667794C>G	uc001bxs.3	+	4	1209	c.810C>G	c.(808-810)CTC>CTG	p.L270L	C1orf94_uc001bxt.2_Silent_p.L460L	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	270							protein binding				0		Myeloproliferative disorder(586;0.0393)				ACCAGCCACTCTGGCTCAACC	0.522		NA											19	55					0	0	0	0
CLSPN	63967	broad.mit.edu	37	1	36230196	36230196	+	Missense_Mutation	SNP	C	C	T	rs139161179	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:36230196C>T	uc001bzi.2	-	3	333	c.253G>A	c.(253-255)GAG>AAG	p.E85K	CLSPN_uc009vux.2_Missense_Mutation_p.E85K	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	85					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTCCTCCTCGGCACTGTCA	0.373		NA											23	160					0	0	0	0
EIF2C3	192669	broad.mit.edu	37	1	36521242	36521242	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:36521242G>A	uc001bzp.2	+	19	2735	c.2479G>A	c.(2479-2481)GAA>AAA	p.E827K	EIF2C3_uc001bzq.2_Missense_Mutation_p.E593K	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	827					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTACAGTGCTGAAGGAAGTCA	0.373		NA											10	212					0	0	0	0
SF3A3	10946	broad.mit.edu	37	1	38449853	38449853	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:38449853C>T	uc001cci.2	-	6	580	c.456G>A	c.(454-456)CTG>CTA	p.L152L	SF3A3_uc010oik.1_Silent_p.L99L	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	152					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAGATGCCTTCAGGTTAATGT	0.468		NA											9	42					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39792905	39792905	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39792905G>A	uc010ois.1	+	37	4714	c.4509G>A	c.(4507-4509)GAG>GAA	p.E1503E	MACF1_uc001cda.1_Silent_p.E1411E|MACF1_uc001cdc.1_Silent_p.E590E|MACF1_uc001cdb.1_Silent_p.E590E	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAAAAAGAGAAGAAACAAA	0.388		NA											13	74					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39806314	39806314	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39806314G>C	uc010oiu.1	+	3	5807	c.5676G>C	c.(5674-5676)CAG>CAC	p.Q1892H	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3457					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATCTTCAGAAGTCTCTCA	0.433		NA											17	70					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39833972	39833972	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39833972G>C	uc010oiu.1	+	14	8375	c.8244G>C	c.(8242-8244)AAG>AAC	p.K2748N	MACF1_uc010ois.1_Missense_Mutation_p.K2246N|MACF1_uc001cda.1_Missense_Mutation_p.K2154N|MACF1_uc001cdc.1_Missense_Mutation_p.K1333N|MACF1_uc001cdb.1_Missense_Mutation_p.K1333N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4313					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCTACAGAAGACAGTTAAAG	0.423		NA											30	116					0	0	0	0
TRIT1	54802	broad.mit.edu	37	1	40313713	40313713	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:40313713C>T	uc010oiz.1	-	6	774	c.760G>A	c.(760-762)GAG>AAG	p.E254K	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_5'UTR|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.E8K|TRIT1_uc001ceh.3_Missense_Mutation_p.E8K|TRIT1_uc009vvv.2_Missense_Mutation_p.E113K|TRIT1_uc001cei.3_Missense_Mutation_p.E8K|TRIT1_uc001ceq.2_5'UTR|TRIT1_uc001cek.2_5'UTR|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.E172K|TRIT1_uc001cen.2_Missense_Mutation_p.E8K|TRIT1_uc001ceo.2_Missense_Mutation_p.E8K|TRIT1_uc001cep.2_Missense_Mutation_p.E8K	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	254	Interaction with isopentenylpyrophosphate transferase (By similarity).				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTAGTTCCTCCAAGAGCCCA	0.428		NA											35	137					0	0	0	0
RLF	6018	broad.mit.edu	37	1	40703619	40703619	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:40703619C>G	uc001cfc.3	+	8	3276	c.3245C>G	c.(3244-3246)TCA>TGA	p.S1082*	RLF_uc001cfd.3_Nonsense_Mutation_p.S773*	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1082					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGATCTTTCTCAGGGTCATTG	0.408		NA											47	186					0	0	0	0
ZNF684	127396	broad.mit.edu	37	1	41012566	41012566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:41012566G>A	uc001cft.1	+	5	822	c.571G>A	c.(571-573)GAC>AAC	p.D191N		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	191	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TGAATGCAATGACTGTGGAAA	0.393		NA											17	118					0	0	0	0
EDN2	1907	broad.mit.edu	37	1	41946860	41946860	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:41946860C>G	uc001cgx.2	-	4	421	c.349G>C	c.(349-351)GAA>CAA	p.E117Q	EDN2_uc001cgu.2_Intron|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_Intron|EDN2_uc009vwi.2_RNA|EDN2_uc009vwj.2_Intron	NM_001956	NP_001947	P20800	EDN2_HUMAN	endothelin 2 preproprotein	117					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCGGCTTCAGTCCTACGT	0.632		NA											35	95					0	0	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636430	43636430	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43636430C>T	uc001cin.2	-	4	641	c.444G>A	c.(442-444)CAG>CAA	p.Q148Q	EBNA1BP2_uc001cio.2_Silent_p.Q203Q|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Silent_p.Q43Q|EBNA1BP2_uc010ojx.1_Silent_p.Q203Q	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	148	Potential.				ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCTTACCTTCTGCATCTGCA	0.453		NA											77	308					0	0	0	0
KIAA0467	23334	broad.mit.edu	37	1	43907221	43907221	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43907221C>T	uc001cjk.1	+	39	5323	c.4861C>T	c.(4861-4863)CCT>TCT	p.P1621S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2520						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACCCTTCATCCTGTGTTTGC	0.552		NA											96	381					0	0	0	0
KIAA0467	23334	broad.mit.edu	37	1	43908875	43908875	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43908875G>A	uc001cjk.1	+	45	6201	c.5739G>A	c.(5737-5739)ATG>ATA	p.M1913I		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2812						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCGCCAGATGAAGATGGAAA	0.552		NA											27	88					0	0	0	0
B4GALT2	8704	broad.mit.edu	37	1	44456112	44456112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:44456112C>T	uc001clg.2	+	7	1481	c.1111C>T	c.(1111-1113)CGG>TGG	p.R371W	B4GALT2_uc001clh.2_Missense_Mutation_p.R305W|B4GALT2_uc010okl.1_Missense_Mutation_p.R400W|B4GALT2_uc001cli.2_Missense_Mutation_p.R371W|CCDC24_uc001clj.2_5'Flank|CCDC24_uc001clk.2_5'Flank|CCDC24_uc009vxc.2_5'Flank	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	371	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GTGGCCCCCTCGGGGCTGACA	0.622		NA											14	274					0	0	0	0
CC2D1B	200014	broad.mit.edu	37	1	52821958	52821958	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:52821958G>C	uc001ctq.1	-	18	2110	c.1972C>G	c.(1972-1974)CAG>GAG	p.Q658E	CC2D1B_uc001ctr.2_Missense_Mutation_p.Q198E|CC2D1B_uc001cts.2_Missense_Mutation_p.Q343E	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	658										ovary(2)	2						TTGCGGTCCTGAGCAAGCTTC	0.572		NA											64	299					0	0	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52981631	52981631	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:52981631C>G	uc001ctx.2	-	3	1048	c.814G>C	c.(814-816)GAG>CAG	p.E272Q	ZCCHC11_uc001cty.2_Missense_Mutation_p.E272Q|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E272Q|ZCCHC11_uc009vze.1_Missense_Mutation_p.E272Q|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E31Q|ZCCHC11_uc001cub.2_Missense_Mutation_p.E272Q|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.E272Q	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	272					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AGCCTCTGCTCAGGTGTCAAT	0.368		NA											40	159					0	0	0	0
ECHDC2	55268	broad.mit.edu	37	1	53373583	53373583	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:53373583C>G	uc001cup.3	-	4	567	c.321G>C	c.(319-321)GTG>GTC	p.V107V	ECHDC2_uc001cun.2_Silent_p.V61V|ECHDC2_uc001cuo.3_Silent_p.V107V|ECHDC2_uc010onk.1_Silent_p.V61V|ECHDC2_uc010onl.1_Silent_p.V61V|ECHDC2_uc010onm.1_Silent_p.V61V|ECHDC2_uc010onn.1_Silent_p.V61V	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	107					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1						CAAACACCCCCACCTCTGCTT	0.592		NA											13	103					0	0	0	0
TMEM48	55706	broad.mit.edu	37	1	54269611	54269611	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:54269611G>C	uc001cvs.2	-	10	1297	c.1056C>G	c.(1054-1056)CTC>CTG	p.L352L	TMEM48_uc010onu.1_Silent_p.L312L|TMEM48_uc001cvt.2_Silent_p.L229L|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Silent_p.L17L	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	352	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2						CTGGTTGGCTGAGGCTGAAAA	0.308		NA											98	424					0	0	0	0
FAM151A	338094	broad.mit.edu	37	1	55089033	55089033	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:55089033G>C	uc001cxn.2	-	1	168	c.36C>G	c.(34-36)GTC>GTG	p.V12V	ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	12						integral to membrane					0						ACACCCACTTGACCTGATTCT	0.612		NA											53	233					0	0	0	0
C1orf175	374977	broad.mit.edu	37	1	55130890	55130890	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:55130890G>C	uc010ooe.1	+	4	1606	c.1282G>C	c.(1282-1284)GAA>CAA	p.E428Q	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_5'UTR|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_5'UTR|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.E428Q|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	428						integral to membrane	binding				0						AGAGAAGACAGAAGGTGGCAA	0.552		NA											9	82					0	0	0	0
C1orf168	199920	broad.mit.edu	37	1	57257831	57257831	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:57257831G>C	uc001cym.3	-	2	1061	c.655C>G	c.(655-657)CAA>GAA	p.Q219E	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.Q219E	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	219										ovary(3)|skin(2)	5						CTGATATGTTGAGAAATTACA	0.522		NA											50	279					0	0	0	0
INADL	10207	broad.mit.edu	37	1	62455875	62455875	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:62455875G>C	uc001dab.2	+	28	3820	c.3706G>C	c.(3706-3708)GAA>CAA	p.E1236Q	INADL_uc009waf.1_Missense_Mutation_p.E1236Q|INADL_uc001daa.2_Missense_Mutation_p.E1236Q|INADL_uc001dad.3_Missense_Mutation_p.E933Q|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.E20Q|INADL_uc009wag.2_Missense_Mutation_p.E20Q|INADL_uc010oou.1_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1236					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TCTGCCTGGAGAACTGCACAT	0.333		NA											17	90					0	0	0	0
PDE4B	5142	broad.mit.edu	37	1	66838008	66838008	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:66838008G>A	uc001dcn.2	+	17	2049	c.1858G>A	c.(1858-1860)GAC>AAC	p.D620N	PDE4B_uc009war.2_Missense_Mutation_p.D528N|PDE4B_uc001dco.2_Missense_Mutation_p.D620N|PDE4B_uc001dcp.2_Missense_Mutation_p.D605N|PDE4B_uc001dcq.2_Missense_Mutation_p.D448N|PDE4B_uc009was.2_Missense_Mutation_p.D387N	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	620					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGTTTCATCGACTACATTGT	0.413		NA											56	164					0	0	0	0
WDR78	79819	broad.mit.edu	37	1	67340502	67340502	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:67340502G>A	uc001dcx.2	-	5	818	c.762C>T	c.(760-762)GTC>GTT	p.V254V	WDR78_uc001dcy.2_Silent_p.V254V|WDR78_uc001dcz.2_Silent_p.V254V|WDR78_uc009waw.2_5'UTR|WDR78_uc009wax.2_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	254										ovary(2)	2						CAGAGACCATGACTGTGGGCA	0.373		NA											49	151					0	0	0	0
RPE65	6121	broad.mit.edu	37	1	68897200	68897200	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:68897200C>T	uc001dei.1	-	11	1251	c.1197G>A	c.(1195-1197)GAG>GAA	p.E399E		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	399					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1						GCCAGATAGTCTCGTCACTGC	0.463		NA											25	42					0	0	0	0
LRRC8D	55144	broad.mit.edu	37	1	90401042	90401042	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:90401042G>A	uc001dnm.2	+	3	2840	c.2415G>A	c.(2413-2415)CTG>CTA	p.L805L	LRRC8D_uc001dnn.2_Silent_p.L805L	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	805	LRR 13.					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGCTGGAGCTGAAGGGGAACT	0.527		NA											37	64					0	0	0	0
FRRS1	391059	broad.mit.edu	37	1	100203724	100203724	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:100203724C>G	uc001dsh.1	-	7	1279	c.677G>C	c.(676-678)AGA>ACA	p.R226T		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	stromal cell derived factor receptor 2 homolog	226	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TTGGTCATCTCTTGTGAAGGA	0.458		NA											11	127					0	0	0	0
CELSR2	1952	broad.mit.edu	37	1	109806290	109806290	+	Missense_Mutation	SNP	C	C	G	rs139381040		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:109806290C>G	uc001dxa.3	+	9	4953	c.4892C>G	c.(4891-4893)TCG>TGG	p.S1631W		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1631	Extracellular (Potential).|Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATGGCCTCTCGCTGCCCATC	0.652		NA									OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	124					0	0	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	113000008	113000008	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:113000008G>C	uc001ebx.2	+	6	2122	c.1894G>C	c.(1894-1896)GAG>CAG	p.E632Q	CTTNBP2NL_uc001ebz.2_Intron	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	632						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGATGTTGAGTTACTTTT	0.478		NA											47	61					0	0	0	0
HIPK1	204851	broad.mit.edu	37	1	114483834	114483834	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:114483834G>C	uc001eem.2	+	2	990	c.829G>C	c.(829-831)GAT>CAT	p.D277H	HIPK1_uc001eel.2_Missense_Mutation_p.D277H|HIPK1_uc001een.2_Missense_Mutation_p.D277H	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	277	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACTTATATGATTTTCTAAA	0.408		NA											33	61					0	0	0	0
WARS2	10352	broad.mit.edu	37	1	119619152	119619152	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:119619152C>G	uc001ehn.2	-	2	197	c.169G>C	c.(169-171)GAG>CAG	p.E57Q	WARS2_uc010oxf.1_5'UTR|WARS2_uc001ehm.2_Missense_Mutation_p.E57Q|WARS2_uc010oxg.1_Missense_Mutation_p.E57Q|WARS2_uc010oxh.1_Missense_Mutation_p.E57Q|WARS2_uc010oxi.1_5'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	57					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACCCAGCTCTCAATGGCTCCC	0.483		NA											64	145					0	0	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882644	144882644	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:144882644C>G	uc001elw.3	-	24	3666	c.3375G>C	c.(3373-3375)CTG>CTC	p.L1125L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.L132L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1125					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTGCTACTCAGCACAAGTT	0.463		NA	T	PDGFRB	MPD								27	372					0	0	0	0
SEC22B	9554	broad.mit.edu	37	1	145109554	145109554	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:145109554G>C	uc001eml.1	+	5	356	c.216G>C	c.(214-216)TTG>TTC	p.L72F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	72	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						TGTGTGATTTGGTTTTATGTG	0.413		NA											17	604					0	0	0	0
CHD1L	9557	broad.mit.edu	37	1	146763163	146763163	+	Splice_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:146763163G>C	uc001epm.3	+	20	2384	c.2321_splice	c.e20-1	p.D774_splice	uc001epp.2_Intron|CHD1L_uc001epn.3_Splice_Site_p.D661_splice|CHD1L_uc010ozo.1_Splice_Site|CHD1L_uc009wjg.2_Splice_Site|CHD1L_uc009wjh.2_Splice_Site_p.D680_splice|CHD1L_uc010ozp.1_Splice_Site_p.D493_splice|CHD1L_uc001epo.3_Splice_Site_p.D570_splice|CHD1L_uc009wji.2_Splice_Site_p.D493_splice	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein						chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					TTTTACCTCAGACCTGAGTTT	0.398		NA											16	102					0	0	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:149857978G>C	uc001etc.2	-	1	255	c.213C>G	c.(211-213)TTC>TTG	p.F71L	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622		NA											83	168					0	0	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859411	149859411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:149859411G>T	uc001ete.2	-	1	56	c.56C>A	c.(55-57)TCG>TAG	p.S19*	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	19					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCGCGGGACGAGCGCGACTT	0.622		NA											58	125					3.31e-30	3.56e-30	1	0
PLEKHO1	51177	broad.mit.edu	37	1	150131448	150131448	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:150131448G>A	uc001ett.2	+	6	1238	c.960G>A	c.(958-960)CAG>CAA	p.Q320Q	PLEKHO1_uc001etr.2_Silent_p.Q148Q|PLEKHO1_uc001ets.2_Silent_p.Q137Q|PLEKHO1_uc001etu.2_Silent_p.Q148Q	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	320	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGACTCAGGAGCTTCTGG	0.647		NA											4	117					0	0	0	0
C1orf51	148523	broad.mit.edu	37	1	150259239	150259239	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:150259239C>T	uc001euh.2	+	6	1167	c.1031C>T	c.(1030-1032)TCA>TTA	p.S344L	C1orf51_uc001eui.2_Missense_Mutation_p.S256L|C1orf51_uc001euj.2_Missense_Mutation_p.S344L	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	344											0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCTGCCATCAGACTGGAGC	0.542		NA											56	117					0	0	0	0
POGZ	23126	broad.mit.edu	37	1	151377284	151377284	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:151377284C>G	uc001eyd.1	-	19	4533	c.4227G>C	c.(4225-4227)GAG>GAC	p.E1409D	POGZ_uc001eye.1_Missense_Mutation_p.E1356D|POGZ_uc010pdb.1_Missense_Mutation_p.E1400D|POGZ_uc001eyf.1_Missense_Mutation_p.E1365D|POGZ_uc010pdc.1_Missense_Mutation_p.E1347D|POGZ_uc009wmv.1_Missense_Mutation_p.E1314D|POGZ_uc010pdd.1_Missense_Mutation_p.E900D	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1409					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACACTCAAATCTCCATCAGAT	0.507		NA									OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	34	73					0	0	0	0
CGN	57530	broad.mit.edu	37	1	151491282	151491282	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:151491282C>G	uc009wmw.2	+	2	431	c.287C>G	c.(286-288)TCA>TGA	p.S96*		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	90	Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCTGAGCTCAGATTTGGAA	0.577		NA											26	53					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152281432	152281432	+	Nonsense_Mutation	SNP	G	G	C	rs140980397		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152281432G>C	uc001ezu.1	-	3	5966	c.5930C>G	c.(5929-5931)TCA>TGA	p.S1977*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1977	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAGTGCCTGATTGTCTGGA	0.572		NA							Ichthyosis				277	515					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152281579	152281579	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152281579G>A	uc001ezu.1	-	3	5819	c.5783C>T	c.(5782-5784)TCA>TTA	p.S1928L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1928	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGTCTTCTGAGTGTCCCTG	0.567		NA							Ichthyosis				197	355					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152286936	152286936	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152286936C>G	uc001ezu.1	-	3	462	c.426G>C	c.(424-426)AAG>AAC	p.K142N	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	142					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGGCTCTTGGATCTTC	0.348		NA							Ichthyosis				88	208					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152286973	152286973	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152286973C>G	uc001ezu.1	-	3	425	c.389G>C	c.(388-390)AGA>ACA	p.R130T	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	130					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTTCTTCTTTCCAGACT	0.373		NA							Ichthyosis				84	198					0	0	0	0
UBAP2L	9898	broad.mit.edu	37	1	154197669	154197669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154197669C>T	uc001fep.3	+	2	237	c.70C>T	c.(70-72)CAG>TAG	p.Q24*	UBAP2L_uc009wot.2_Nonsense_Mutation_p.Q24*|UBAP2L_uc010pek.1_Nonsense_Mutation_p.Q23*|UBAP2L_uc010pel.1_Nonsense_Mutation_p.Q23*|UBAP2L_uc001fen.1_Nonsense_Mutation_p.Q23*|UBAP2L_uc010pem.1_Nonsense_Mutation_p.Q23*	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	24					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAACCAGACACAGCACAAGCA	0.453		NA											6	66					0	0	0	0
UBAP2L	9898	broad.mit.edu	37	1	154223669	154223669	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154223669C>T	uc001fep.3	+	13	1533	c.1366C>T	c.(1366-1368)CTG>TTG	p.L456L	UBAP2L_uc009wot.2_Silent_p.L456L|UBAP2L_uc010pek.1_Silent_p.L448L|UBAP2L_uc010pel.1_Silent_p.L466L|UBAP2L_uc010pen.1_Silent_p.L370L	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	456					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTCTTCTCCTCTGCCAAGCAA	0.547		NA											88	142					0	0	0	0
IL6R	3570	broad.mit.edu	37	1	154427027	154427027	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154427027G>C	uc001fez.1	+	9	1567	c.1130G>C	c.(1129-1131)GGA>GCA	p.G377A	IL6R_uc001ffa.1_Intron	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	377	Helical; (Potential).				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGCCTTCGGAACGCTCCTC	0.443		NA											17	44					0	0	0	0
ADAM15	8751	broad.mit.edu	37	1	155034448	155034448	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:155034448G>A	uc001fgr.1	+	21	2522	c.2421G>A	c.(2419-2421)CCG>CCA	p.P807P	EFNA3_uc010pew.1_5'Flank|ADAM15_uc001fgq.1_Silent_p.P491P|ADAM15_uc001fgt.1_Silent_p.P806P|ADAM15_uc010pev.1_Intron|ADAM15_uc001fgs.1_Intron|ADAM15_uc001fgu.1_Silent_p.P782P|ADAM15_uc001fgw.1_Intron|ADAM15_uc001fgv.1_Intron|ADAM15_uc001fgx.1_Intron|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Intron|EFNA4_uc001fhc.2_5'Flank|EFNA4_uc001fhd.2_5'Flank|EFNA4_uc001fhe.2_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	807	Cytoplasmic (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGAGAAGCCCGAAGGTAACGG	0.677		NA									OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	141					0	0	0	0
CD1C	911	broad.mit.edu	37	1	158262651	158262651	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158262651C>T	uc001fru.2	+	4	1168	c.876C>T	c.(874-876)ATC>ATT	p.I292I	CD1C_uc001frv.2_Silent_p.I95I	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	292	Extracellular (Potential).|Ig-like.				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)					GCCAGGACATCATCCTCTACT	0.527		NA											12	45					0	0	0	0
SPTA1	6708	broad.mit.edu	37	1	158621223	158621223	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158621223G>C	uc001fst.1	-	24	3610	c.3411C>G	c.(3409-3411)ATC>ATG	p.I1137M		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1137	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTACCTTGTTGATATCCCTTA	0.438		NA											98	183					0	0	0	0
MNDA	4332	broad.mit.edu	37	1	158812162	158812162	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158812162A>G	uc001fsz.1	+	2	419	c.219A>G	c.(217-219)CCA>CCG	p.P73P		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	73	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AAGATATGCCATCACTTAAAA	0.373		NA											50	112					0	0	0	0
ATP1A2	477	broad.mit.edu	37	1	160106385	160106385	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:160106385C>G	uc001fvc.2	+	19	2721	c.2589C>G	c.(2587-2589)TTC>TTG	p.F863L	ATP1A2_uc001fvb.2_Missense_Mutation_p.F863L|ATP1A2_uc001fvd.2_Intron	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	863	Helical; (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGTGGCTTCTTCACCTACT	0.602		NA											25	111					0	0	0	0
FCGR3A	2214	broad.mit.edu	37	1	161512965	161512965	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:161512965G>A	uc001gat.3	-	6	739	c.602C>T	c.(601-603)TCA>TTA	p.S201L	FCGR3A_uc001gar.2_Missense_Mutation_p.S237L|FCGR3A_uc001gas.2_Missense_Mutation_p.S236L|FCGR3A_uc009wuh.2_Missense_Mutation_p.S200L|FCGR3A_uc009wui.2_Missense_Mutation_p.S201L	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	201	Extracellular (Potential).				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGAAAGAATGATGAGATGGT	0.423		NA											42	72					0	0	0	0
DCAF6	55827	broad.mit.edu	37	1	168014243	168014243	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168014243C>G	uc001gew.2	+	14	2047	c.1805C>G	c.(1804-1806)TCT>TGT	p.S602C	DCAF6_uc001gev.2_Missense_Mutation_p.S622C|DCAF6_uc001gex.2_Missense_Mutation_p.S679C|DCAF6_uc010plk.1_Missense_Mutation_p.S648C|DCAF6_uc001gey.2_Missense_Mutation_p.S475C|DCAF6_uc001gez.2_Translation_Start_Site	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	602					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TCTGCTTCATCTGAAAAAGCC	0.443		NA											24	168					0	0	0	0
GPR161	23432	broad.mit.edu	37	1	168065809	168065809	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168065809G>A	uc001gfc.2	-	5	1350	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	GPR161_uc001gfb.2_Missense_Mutation_p.R214W|GPR161_uc010pll.1_Missense_Mutation_p.R256W|GPR161_uc010plm.1_Missense_Mutation_p.R232W|GPR161_uc009wvo.2_Missense_Mutation_p.R363W|GPR161_uc001gfd.2_Missense_Mutation_p.R346W|GPR161_uc010pln.1_Missense_Mutation_p.R366W|GPR161_uc001gfe.1_Missense_Mutation_p.R346W	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	346	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					AATGGTTCCCGATAATACCGG	0.527		NA											44	66					0	0	0	0
TIPRL	261726	broad.mit.edu	37	1	168160697	168160697	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168160697G>A	uc001gfg.2	+	4	620	c.475G>A	c.(475-477)GAA>AAA	p.E159K	TIPRL_uc001gfh.2_Missense_Mutation_p.E159K|TIPRL_uc001gff.2_Missense_Mutation_p.E159K	NM_152902	NP_690866	O75663	TIPRL_HUMAN	TIP41, TOR signalling pathway regulator-like	159					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			ovary(1)	1	all_hematologic(923;0.215)					TTTTGAGGATGAACTTCATGA	0.299		NA											22	170					0	0	0	0
C1orf9	51430	broad.mit.edu	37	1	172539802	172539802	+	Splice_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:172539802G>C	uc001giq.3	+	9	1298	c.982_splice	c.e9-1	p.S328_splice	C1orf9_uc010pmm.1_Splice_Site_p.S328_splice|C1orf9_uc009wwd.2_Splice_Site_p.S291_splice|C1orf9_uc010pmn.1_Splice_Site_p.S291_splice|C1orf9_uc010pmo.1_Splice_Site	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein						multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TTTTAAAATAGAGCACATCTG	0.269		NA											17	41					0	0	0	0
C1orf9	51430	broad.mit.edu	37	1	172558197	172558197	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:172558197G>C	uc001giq.3	+	18	2272	c.1956G>C	c.(1954-1956)TTG>TTC	p.L652F	C1orf9_uc010pmm.1_Missense_Mutation_p.L652F|C1orf9_uc009wwd.2_Missense_Mutation_p.L608F|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	652					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GAACTGCTTTGAGTAAAGGAA	0.393		NA											25	43					0	0	0	0
DARS2	55157	broad.mit.edu	37	1	173795878	173795878	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:173795878C>T	uc001gjh.1	+	2	591	c.181C>T	c.(181-183)CAC>TAC	p.H61Y	CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	61					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	GCGTTCGTCTCACTTAGGCCA	0.388		NA											18	134					0	0	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564298	176564298	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:176564298C>T	uc001gkz.2	+	3	2722	c.1558C>T	c.(1558-1560)CGG>TGG	p.R520W	PAPPA2_uc001gky.1_Missense_Mutation_p.R520W|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	520	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CTGGCCCCTTCGGGGAGAGAA	0.537		NA											32	50					0	0	0	0
LHX4	89884	broad.mit.edu	37	1	180243597	180243597	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:180243597G>C	uc001goe.1	+	6	1279	c.1056G>C	c.(1054-1056)CTG>CTC	p.L352L	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	352						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GCCAGACGCTGAGAGCCATGG	0.572		NA											46	296					0	0	0	0
C1orf14	81626	broad.mit.edu	37	1	182869253	182869253	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:182869253G>C	uc001gpu.2	-	10	2112	c.1827C>G	c.(1825-1827)CTC>CTG	p.L609L	C1orf14_uc001gpv.2_Silent_p.L490L|C1orf14_uc010pnz.1_Silent_p.L467L|C1orf14_uc001gpw.2_Silent_p.L329L	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	681											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		CCCTTTTGTTGAGAGCTTCTT	0.313		NA											9	62					0	0	0	0
C1orf26	54823	broad.mit.edu	37	1	185143909	185143909	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:185143909A>G	uc001grg.3	+	5	744	c.630A>G	c.(628-630)CAA>CAG	p.Q210Q	C1orf26_uc001grh.3_Silent_p.Q210Q	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	210											0						AGAGAAATCAATTTTCTCAGG	0.348		NA											34	170					0	0	0	0
KIF14	9928	broad.mit.edu	37	1	200534687	200534687	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:200534687C>G	uc010ppk.1	-	24	4211	c.3772G>C	c.(3772-3774)GAT>CAT	p.D1258H	KIF14_uc010ppj.1_Missense_Mutation_p.D767H	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1258	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						CTTTCTTCATCATAACTCTGT	0.333		NA											6	116					0	0	0	0
KIF21B	23046	broad.mit.edu	37	1	200960823	200960823	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:200960823G>A	uc001gvs.1	-	17	2733	c.2416C>T	c.(2416-2418)CGG>TGG	p.R806W	KIF21B_uc001gvr.1_Missense_Mutation_p.R806W|KIF21B_uc009wzl.1_Missense_Mutation_p.R806W|KIF21B_uc010ppn.1_Missense_Mutation_p.R806W	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	806	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TCCTGCTGCCGCTTCTGGGAC	0.617		NA											22	38					0	0	0	0
KLHL12	59349	broad.mit.edu	37	1	202861736	202861736	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:202861736G>A	uc001gyo.1	-	12	1832	c.1632C>T	c.(1630-1632)ATC>ATT	p.I544I	KLHL12_uc001gym.1_3'UTR|KLHL12_uc001gyn.1_3'UTR|KLHL12_uc010pqc.1_Silent_p.I582I	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	544	Kelch 6.|Interaction with DVL3.				Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGCTGTCGATGATAGGGT	0.443		NA											12	105					0	0	0	0
TMCC2	9911	broad.mit.edu	37	1	205210816	205210816	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:205210816C>T	uc001hbz.1	+	3	835	c.391C>T	c.(391-393)CGC>TGC	p.R131C	TMCC2_uc010prf.1_Missense_Mutation_p.R53C	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	131						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGATGCATCGCGTCTCCTA	0.657		NA											25	27					0	0	0	0
FAIM3	9214	broad.mit.edu	37	1	207087216	207087216	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:207087216G>C	uc001hey.2	-	2	440	c.261C>G	c.(259-261)TTC>TTG	p.F87L	FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Missense_Mutation_p.P31A|FAIM3_uc010psb.1_Missense_Mutation_p.F87L	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3 isoform a	87	Ig-like.|Extracellular (Potential).				anti-apoptosis|cellular defense response	integral to membrane				central_nervous_system(1)	1	Breast(84;0.201)					CCTCCACTAGGAACAGATTCT	0.522		NA											6	181					0	0	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218433	208218433	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:208218433G>A	uc001hgz.2	-	19	4376	c.3618C>T	c.(3616-3618)CTC>CTT	p.L1206L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1206	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTGCCCGGTGAGGTTGGGAG	0.577		NA											5	104					0	0	0	0
DUSP10	11221	broad.mit.edu	37	1	221912637	221912637	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:221912637G>C	uc001hmy.1	-	2	632	c.450C>G	c.(448-450)ATC>ATG	p.I150M	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	150					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CATTGGGGTAGATTATTTTGA	0.512		NA											5	123					0	0	0	0
CABC1	56997	broad.mit.edu	37	1	227171832	227171832	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:227171832G>C	uc001hqm.1	+	16	4713	c.1294G>C	c.(1294-1296)GAG>CAG	p.E432Q	CABC1_uc001hqn.1_Missense_Mutation_p.E432Q|CABC1_uc009xeq.1_Missense_Mutation_p.E380Q|CABC1_uc010pvq.1_Missense_Mutation_p.E153Q|CABC1_uc010pvr.1_Missense_Mutation_p.E106Q|CABC1_uc001hqo.1_Missense_Mutation_p.E153Q|CABC1_uc009xer.1_5'UTR	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	432	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CTATGTGCCTGAGATTGTGGA	0.642		NA											4	41					0	0	0	0
DISC1	27185	broad.mit.edu	37	1	231830436	231830436	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:231830436G>T	uc001huz.2	+	2	985	c.932G>T	c.(931-933)GGC>GTC	p.G311V	TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.G266V|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.G266V|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.G300V|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.G266V|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.G266V|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.G300V|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.G300V|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.G311V|DISC1_uc010pwp.1_Missense_Mutation_p.G311V|DISC1_uc010pwq.1_Missense_Mutation_p.G311V|DISC1_uc010pwr.1_Missense_Mutation_p.G311V|DISC1_uc010pws.1_Missense_Mutation_p.G311V|DISC1_uc010pwt.1_Missense_Mutation_p.G311V|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.G311V|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.G311V|DISC1_uc010pxb.1_Missense_Mutation_p.G311V|DISC1_uc010pxc.1_Missense_Mutation_p.G311V|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.G311V|DISC1_uc009xfr.2_Missense_Mutation_p.G266V|DISC1_uc010pxf.1_Missense_Mutation_p.G311V|DISC1_uc010pxg.1_Missense_Mutation_p.G311V|DISC1_uc010pxh.1_Missense_Mutation_p.G311V|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.G311V|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.G311V|DISC1_uc010pwm.1_Missense_Mutation_p.G311V|DISC1_uc001hux.1_Missense_Mutation_p.G311V|DISC1_uc001hvc.3_Missense_Mutation_p.G311V|DISC1_uc010pwn.1_Missense_Mutation_p.G311V	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	311	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				TCACTGGCTGGCTGTGGTGGT	0.617		NA											16	87					6.5e-13	6.86e-13	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232601014	232601014	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:232601014G>T	uc001hvg.2	-	7	2550	c.2392C>A	c.(2392-2394)CGA>AGA	p.R798R	SIPA1L2_uc001hvf.2_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	798	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCCATTGCTCGAAACTTTTCT	0.468		NA											30	194					2.47e-13	2.61e-13	1	0
ERO1LB	56605	broad.mit.edu	37	1	236416724	236416724	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:236416724C>G	uc001hxt.2	-	3	560	c.304G>C	c.(304-306)GAG>CAG	p.E102Q	ERO1LB_uc010pxt.1_Missense_Mutation_p.E102Q	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	102					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TATTATACCTCTGGACAGGGC	0.383		NA											22	34					0	0	0	0
HEATR1	55127	broad.mit.edu	37	1	236719107	236719107	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:236719107C>T	uc001hyd.1	-	39	5772	c.5647G>A	c.(5647-5649)GAG>AAG	p.E1883K	HEATR1_uc009xgh.1_Missense_Mutation_p.E1045K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1883					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAGCTTACCTCAGAGTGCTGG	0.493		NA											11	217					0	0	0	0
CEP170	9859	broad.mit.edu	37	1	243319598	243319598	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243319598G>C	uc001hzs.2	-	14	4244	c.3836C>G	c.(3835-3837)TCT>TGT	p.S1279C	CEP170_uc001hzt.2_Missense_Mutation_p.S1145C|CEP170_uc001hzu.2_Missense_Mutation_p.S1181C|CEP170_uc001hzv.1_Missense_Mutation_p.S621C	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1279	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTGAATGAAGAACTAGTAGG	0.463		NA											3	20					0	0	0	0
CEP170	9859	broad.mit.edu	37	1	243362377	243362377	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243362377C>T	uc001hzs.2	-	7	1024	c.616G>A	c.(616-618)GAA>AAA	p.E206K	CEP170_uc001hzt.2_Missense_Mutation_p.E206K|CEP170_uc001hzu.2_Missense_Mutation_p.E206K	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	206						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTCCAGCTTCATGGTTTTTT	0.403		NA											4	35					0	0	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243504340	243504340	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243504340G>A	uc001hzw.2	+	11	1378	c.1222_splice	c.e11-1	p.M408_splice	SDCCAG8_uc010pyk.1_Splice_Site_p.M263_splice|SDCCAG8_uc010pyl.1_Splice_Site_p.M220_splice|SDCCAG8_uc001hzx.2_Splice_Site_p.M220_splice	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTCCCTTACAGATGTTGATCT	0.358		NA											9	101					0	0	0	0
OR2T3	343173	broad.mit.edu	37	1	248637600	248637600	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:248637600G>C	uc001iel.1	+	1	949	c.949G>C	c.(949-951)GAA>CAA	p.E317Q		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	317	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATGAACCAAGAAAAGTAGTA	0.502		NA											101	353					0	0	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262467	7262467	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:7262467C>T	uc009xio.1	-	11	1327	c.1236G>A	c.(1234-1236)ATG>ATA	p.M412I	SFMBT2_uc001ijn.1_Missense_Mutation_p.M412I|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	412	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CTTCAAGTTTCATGTTCTTTG	0.517		NA											62	116					0	0	0	0
DHTKD1	55526	broad.mit.edu	37	10	12162209	12162209	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:12162209G>A	uc001ild.3	+	16	2700	c.2601G>A	c.(2599-2601)CAG>CAA	p.Q867Q		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	867					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGGAACCTCAGAACATGGGTC	0.378		NA											79	115					0	0	0	0
OLAH	55301	broad.mit.edu	37	10	15115168	15115168	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:15115168G>A	uc001inu.2	+	8	992	c.738G>A	c.(736-738)GAG>GAA	p.E246E	ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Silent_p.E299E	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase isoform 2	246					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity				0						CTGCGAACGAGAAATTAATCA	0.328		NA											33	61					0	0	0	0
STAM	8027	broad.mit.edu	37	10	17747604	17747604	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:17747604C>G	uc001ipj.1	+	12	1289	c.1073C>G	c.(1072-1074)TCA>TGA	p.S358*	STAM_uc009xjw.1_Intron	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	358					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						TCAGAACTCTCAGAACTTAAT	0.323		NA											4	89					0	0	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835129	24835129	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:24835129C>T	uc001iru.3	+	21	6111	c.5708C>T	c.(5707-5709)TCC>TTC	p.S1903F	KIAA1217_uc001irs.2_Missense_Mutation_p.S1224F|KIAA1217_uc001irt.3_Missense_Mutation_p.S1269F|KIAA1217_uc010qcy.1_Missense_Mutation_p.S1334F|KIAA1217_uc010qcz.1_Missense_Mutation_p.S1309F|KIAA1217_uc001irw.2_3'UTR|KIAA1217_uc001irz.2_3'UTR|KIAA1217_uc001irx.2_3'UTR|KIAA1217_uc001iry.2_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1903	Ser-rich.				embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						cctgcctcctccgtctcACTG	0.383		NA											30	49					0	0	0	0
PARD3	56288	broad.mit.edu	37	10	34649066	34649066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:34649066G>C	uc010qej.1	-	13	1829	c.1829C>G	c.(1828-1830)TCA>TGA	p.S610*	PARD3_uc010qek.1_Nonsense_Mutation_p.S610*|PARD3_uc010qel.1_Nonsense_Mutation_p.S610*|PARD3_uc010qem.1_Nonsense_Mutation_p.S597*|PARD3_uc010qen.1_Nonsense_Mutation_p.S597*|PARD3_uc010qeo.1_Nonsense_Mutation_p.S597*|PARD3_uc010qep.1_Nonsense_Mutation_p.S553*|PARD3_uc010qeq.1_Nonsense_Mutation_p.S553*|PARD3_uc001ixo.1_Nonsense_Mutation_p.S327*|PARD3_uc001ixp.1_Nonsense_Mutation_p.S475*|PARD3_uc001ixq.1_Nonsense_Mutation_p.S597*|PARD3_uc001ixr.1_Nonsense_Mutation_p.S610*|PARD3_uc001ixt.1_Nonsense_Mutation_p.S431*|PARD3_uc001ixu.1_Nonsense_Mutation_p.S553*|PARD3_uc001ixs.1_Nonsense_Mutation_p.S263*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	610	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				GTTCTCTTTTGACCGGTTACC	0.433		NA											37	107					0	0	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650991	43650991	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:43650991G>C	uc001jan.2	+	2	729	c.394G>C	c.(394-396)GAA>CAA	p.E132Q	CSGALNACT2_uc001jam.1_Missense_Mutation_p.E132Q	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	132	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TGACAAAGCTGAAGTTAGCAT	0.413		NA											44	63					0	0	0	0
ZNF22	7570	broad.mit.edu	37	10	45498928	45498928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:45498928C>T	uc001jbw.2	+	2	355	c.112C>T	c.(112-114)CGA>TGA	p.R38*	C10orf25_uc010qff.1_5'Flank|C10orf25_uc001jbv.1_5'Flank|uc001jbx.1_RNA	NM_006963	NP_008894	P17026	ZNF22_HUMAN	zinc finger protein 22 (KOX 15)	38					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			breast(1)|kidney(1)	2		Prostate(175;0.0352)|all_neural(218;0.202)				CATGACTATTCGATTTGACTC	0.453		NA											54	65					0	0	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968002	64968002	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:64968002G>C	uc001jmn.2	-	10	3727	c.3427C>G	c.(3427-3429)CTT>GTT	p.L1143V	JMJD1C_uc001jml.2_Missense_Mutation_p.L924V|JMJD1C_uc001jmm.2_Missense_Mutation_p.L855V|JMJD1C_uc010qiq.1_Missense_Mutation_p.L961V|JMJD1C_uc009xpi.2_Missense_Mutation_p.L961V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.L180V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1143					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCTTTGAAAGAGATGTTATA	0.408		NA											8	319					0	0	0	0
STOX1	219736	broad.mit.edu	37	10	70646010	70646010	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:70646010G>A	uc001jos.2	+	3	2545	c.2458G>A	c.(2458-2460)GAA>AAA	p.E820K	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.E710K	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	820						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						CCTCTCTGCTGAAAGTTGTGG	0.483		NA											56	65					0	0	0	0
NRG3	10718	broad.mit.edu	37	10	83635424	83635424	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:83635424C>A	uc001kco.2	+	1	355	c.328C>A	c.(328-330)CAG>AAG	p.Q110K	NRG3_uc010qlz.1_Missense_Mutation_p.Q110K|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	110	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGGATGGGCCAGGACCCCTT	0.473		NA											24	40					1.85e-09	1.94e-09	1	0
PTEN	5728	broad.mit.edu	37	10	89624268	89624268	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:89624268G>T	uc001kfb.2	+	2	1073	c.42G>T	c.(40-42)AGG>AGT	p.R14S	KILLIN_uc009xti.2_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	14	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(13)|p.0?(12)|p.R14G(2)|p.R14fs*29(1)|p.R14fs*26(1)|p.I8_R14>LRLICIF(1)|p.R14fs*10(1)|p.N12fs*6(1)|p.R14_D22del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAACAAAAGGAGATATCAAG	0.478		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			61	56					6.29e-36	6.81e-36	1	0
PDE6C	5146	broad.mit.edu	37	10	95372755	95372755	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:95372755C>G	uc001kiu.3	+	1	411	c.273C>G	c.(271-273)CTC>CTG	p.L91L		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	91	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				CCCACCTGCTCCAGGCTGACC	0.657		NA											21	32					0	0	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701723	96701723	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:96701723G>A	uc001kka.3	+	2	302	c.277G>A	c.(277-279)GAG>AAG	p.E93K	CYP2C9_uc009xut.2_Missense_Mutation_p.E93K|CYP2C9_uc001kjz.2_Missense_Mutation_p.E93K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	93					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(4)|ovary(2)	6		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTTGGAGAGGAGTTTTCTGG	0.493		NA											7	256					0	0	0	0
MGEA5	10724	broad.mit.edu	37	10	103558920	103558920	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:103558920C>G	uc001ktv.2	-	9	1931	c.1488G>C	c.(1486-1488)TTG>TTC	p.L496F	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.L443F|MGEA5_uc009xws.2_Missense_Mutation_p.L443F|MGEA5_uc001ktw.2_Missense_Mutation_p.L496F|MGEA5_uc009xwt.2_Missense_Mutation_p.L259F	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	496					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CCATTGGTTTCAATTCCTCTG	0.413		NA											5	477					0	0	0	0
CALHM2	51063	broad.mit.edu	37	10	105209672	105209672	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:105209672G>A	uc001kwz.2	-	2	413	c.27C>T	c.(25-27)TTC>TTT	p.F9F	CALHM2_uc001kxa.2_Silent_p.F9F|CALHM2_uc001kxc.2_Silent_p.F9F|CALHM2_uc001kxb.2_Silent_p.F9F|CALHM2_uc001kxd.1_Silent_p.F9F	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	9						integral to membrane				skin(1)	1						ACAGGAAGCGGAAGTTCTCTG	0.577		NA											68	79					0	0	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386480	118386480	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:118386480G>C	uc001lcq.2	+	7	462	c.439G>C	c.(439-441)GAG>CAG	p.E147Q	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	146					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)		TGTTGGGGCGGAGACAGCTTT	0.577		NA											15	16					0	0	0	0
BAG3	9531	broad.mit.edu	37	10	121436717	121436717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:121436717C>T	uc001lem.2	+	4	1957	c.1651C>T	c.(1651-1653)CAG>TAG	p.Q551*	BAG3_uc001lel.2_Nonsense_Mutation_p.Q550*	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	551					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGAAACCCAGCAGCCAGAAGC	0.552		NA											31	52					0	0	0	0
ACADSB	36	broad.mit.edu	37	10	124800176	124800176	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:124800176C>G	uc001lhb.2	+	4	615	c.498C>G	c.(496-498)CTC>CTG	p.L166L	ACADSB_uc010qub.1_Silent_p.L64L	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	166					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TGCCTCAGCTCACTACAGAAA	0.358		NA											58	51					0	0	0	0
FAM53B	9679	broad.mit.edu	37	10	126311954	126311954	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:126311954C>T	uc001lhv.1	-	5	1649	c.1126G>A	c.(1126-1128)GAG>AAG	p.E376K	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	376										ovary(1)|pancreas(1)	2		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCTGACTCCTCACAGGACAGG	0.716		NA											5	29					0	0	0	0
CTBP2	1488	broad.mit.edu	37	10	126681775	126681775	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:126681775G>A	uc009yak.2	-	9	1322	c.1035C>T	c.(1033-1035)ATC>ATT	p.I345I	CTBP2_uc009yal.2_Silent_p.I345I|CTBP2_uc001lif.3_Silent_p.I345I|CTBP2_uc001lih.3_Silent_p.I345I|CTBP2_uc001lid.3_Silent_p.I413I|CTBP2_uc001lie.3_Silent_p.I885I	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	345					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCTCACCTGTGATGGCTCGGC	0.642		NA											9	14					0	0	0	0
ADAM12	8038	broad.mit.edu	37	10	127806646	127806646	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:127806646C>G	uc001ljk.2	-	6	986	c.573G>C	c.(571-573)AAG>AAC	p.K191N	ADAM12_uc010qul.1_Missense_Mutation_p.K188N|ADAM12_uc001ljm.2_Missense_Mutation_p.K191N|ADAM12_uc001ljn.2_Missense_Mutation_p.K188N|ADAM12_uc001ljl.3_Missense_Mutation_p.K188N	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	191					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GAAACACATTCTTTGCAGCGA	0.493		NA											33	311					0	0	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930805	133930805	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:133930805C>G	uc001lkx.3	+	2	360	c.360C>G	c.(358-360)CTC>CTG	p.L120L		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGCACTGCTCAGTGCCCTGC	0.612		NA											24	29					0	0	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135106655	135106655	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135106655C>T	uc001lmg.1	-	7	1269	c.912G>A	c.(910-912)CTG>CTA	p.L304L	TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.L332L|TUBGCP2_uc009ybk.1_Silent_p.L304L|TUBGCP2_uc010qvd.1_Silent_p.L174L|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	304					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACACCAGAATCAGGTGCTCCT	0.592		NA											53	43					0	0	0	0
MTG1	92170	broad.mit.edu	37	10	135212703	135212703	+	Silent	SNP	G	G	C	rs142057422		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135212703G>C	uc001lnd.2	+	5	497	c.393G>C	c.(391-393)GGG>GGC	p.G131G	MTG1_uc010qve.1_Silent_p.G47G	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	GTP_binding protein precursor	131						mitochondrion	GTP binding|protein binding			skin(1)	1		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AACTGATTGGGAGAAGCCACC	0.632		NA											29	29					0	0	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345198	135345198	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135345198G>C	uc001lnj.1	+	3	480	c.447G>C	c.(445-447)AGG>AGC	p.R149S	CYP2E1_uc001lnk.1_Missense_Mutation_p.R12S|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	149					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGATCCAGAGGGAGGCCCACT	0.597		NA							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				59	72					0	0	0	0
SIGIRR	59307	broad.mit.edu	37	11	407115	407115	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:407115G>A	uc001lpd.2	-	7	1005	c.675C>T	c.(673-675)ATC>ATT	p.I225I	SIGIRR_uc001lpf.2_Silent_p.I225I|SIGIRR_uc001lpe.1_Silent_p.I225I|SIGIRR_uc001lpg.2_Silent_p.I225I	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	225	Cytoplasmic (Potential).|TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAAGCACCACGATGAGGCGTC	0.542		NA											5	14					0	0	0	0
RNH1	6050	broad.mit.edu	37	11	500607	500607	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:500607G>C	uc001lpk.1	-	2	1557	c.149C>G	c.(148-150)TCT>TGT	p.S50C	RNH1_uc001lpl.1_Missense_Mutation_p.S50C|RNH1_uc001lpm.1_Missense_Mutation_p.S50C|RNH1_uc001lpn.1_Missense_Mutation_p.S50C|RNH1_uc001lpo.1_Missense_Mutation_p.S50C|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.S50C|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.S50C|RNH1_uc001lpr.1_Missense_Mutation_p.S50C|RNH1_uc001lps.1_Missense_Mutation_p.S50C|RNH1_uc009ybx.1_Missense_Mutation_p.S50C	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	50	LRR 2.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGAAGTGCAGAGCTGATGTC	0.642		NA											20	60					0	0	0	0
C11orf35	256329	broad.mit.edu	37	11	558713	558713	+	Missense_Mutation	SNP	C	C	T	rs148047813	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:558713C>T	uc001lpx.2	-	3	275	c.212G>A	c.(211-213)CGA>CAA	p.R71Q	uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank|RASSF7_uc001lqc.2_5'Flank|RASSF7_uc001lqd.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	71										pancreas(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCAGTTCTCGCTGTCTCCA	0.672		NA											10	8					0	0	0	0
DEAF1	10522	broad.mit.edu	37	11	691546	691546	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:691546G>A	uc001lqq.1	-	2	1035	c.342C>T	c.(340-342)TTC>TTT	p.F114F		NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	114	Ala-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGACGTGGTGAAGACATTGT	0.592		NA											15	42					0	0	0	0
CTSD	1509	broad.mit.edu	37	11	1774754	1774754	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:1774754G>A	uc001luc.1	-	9	1351	c.1218C>T	c.(1216-1218)TTC>TTT	p.F406F	uc001lub.1_5'Flank|CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	406					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCCTCGGCGAAGCCCACCC	0.667		NA											19	64					0	0	0	0
RRM1	6240	broad.mit.edu	37	11	4132854	4132854	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:4132854G>T	uc001lyw.3	+	6	790	c.471G>T	c.(469-471)TTG>TTT	p.L157F	RRM1_uc009yeh.1_Missense_Mutation_p.L60F|RRM1_uc009yei.2_Missense_Mutation_p.L117F|RRM1_uc010qyc.1_Missense_Mutation_p.L60F	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	157					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CTTATTTGTTGAAGATCAATG	0.328		NA											29	77					4.32e-19	4.6e-19	1	0
OR52A4	390053	broad.mit.edu	37	11	5142422	5142422	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:5142422C>T	uc001lzz.1	-	1	387	c.387G>A	c.(385-387)GCG>GCA	p.A129A	OR52A4_uc001maa.2_RNA	NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATAACAGATCGCTACACAGC	0.463		NA											21	44					0	0	0	0
TRIM5	85363	broad.mit.edu	37	11	5701231	5701231	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:5701231C>G	uc001mbm.1	-	2	434	c.177G>C	c.(175-177)CGG>CGC	p.R59R	TRIM5_uc001mbq.1_Silent_p.R59R|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Silent_p.R59R|TRIM5_uc001mbo.2_Silent_p.R59R|TRIM5_uc001mbp.2_Silent_p.R59R	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	59	RING-type.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GGTAACTGATCCGGCACACAG	0.547		NA											6	234					0	0	0	0
DNHD1	144132	broad.mit.edu	37	11	6519765	6519765	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6519765T>G	uc001mdw.3	+	3	884	c.320T>G	c.(319-321)TTC>TGC	p.F107C	DNHD1_uc001mdp.2_Missense_Mutation_p.F107C	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	107					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCTGCCCTTCCTGGAGCAG	0.567		NA											6	306					0	0	0	0
DNHD1	144132	broad.mit.edu	37	11	6587845	6587845	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6587845G>C	uc001mdw.3	+	35	11799	c.11235G>C	c.(11233-11235)CTG>CTC	p.L3745L	DNHD1_uc001mea.3_Silent_p.L14L|DNHD1_uc001meb.2_Silent_p.L13L|DNHD1_uc001mec.2_Silent_p.L13L|DNHD1_uc010rao.1_Silent_p.L13L|DNHD1_uc009yfg.2_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	3745					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAAAGGGGCTGAATGTGTTGG	0.512		NA											9	28					0	0	0	0
OR10A5	144124	broad.mit.edu	37	11	6866955	6866955	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6866955C>T	uc001met.1	+	1	42	c.42C>T	c.(40-42)CTC>CTT	p.L14L		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATTTATCCTCATGAGCTTCT	0.413		NA											7	484					0	0	0	0
OR10A5	144124	broad.mit.edu	37	11	6867662	6867662	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6867662C>G	uc001met.1	+	1	749	c.749C>G	c.(748-750)TCT>TGT	p.S250C		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGTTGTCTCTCTTTTCTAT	0.423		NA											102	310					0	0	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111102	7111102	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:7111102G>A	uc001mfc.2	+	1	938	c.751G>A	c.(751-753)GAC>AAC	p.D251N		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	251	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTCCGGGACGACTGTCCCTT	0.642		NA											13	28					0	0	0	0
MICAL2	9645	broad.mit.edu	37	11	12183923	12183923	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:12183923C>T	uc001mjz.2	+	3	509	c.221C>T	c.(220-222)TCC>TTC	p.S74F	MICAL2_uc010rch.1_Missense_Mutation_p.S74F|MICAL2_uc001mjy.2_Missense_Mutation_p.S74F|MICAL2_uc001mka.2_Missense_Mutation_p.S74F|MICAL2_uc010rci.1_Missense_Mutation_p.S74F|MICAL2_uc001mkb.2_Missense_Mutation_p.S74F|MICAL2_uc001mkc.2_Missense_Mutation_p.S74F	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	74						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		AAGCGTGGTTCCCACAAAGAG	0.502		NA											11	49					0	0	0	0
HPS5	11234	broad.mit.edu	37	11	18318449	18318449	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18318449G>C	uc001mod.1	-	12	1684	c.1406C>G	c.(1405-1407)TCC>TGC	p.S469C	HPS5_uc001moe.1_Missense_Mutation_p.S355C|HPS5_uc001mof.1_Missense_Mutation_p.S355C	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	469						cytosol				ovary(1)|pancreas(1)|skin(1)	3						GCTGTGAAGGGAGCAAGAGTC	0.418		NA							Hermansky-Pudlak_syndrome				64	181					0	0	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18655767	18655767	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18655767C>G	uc001moy.2	-	1	254	c.38G>C	c.(37-39)GGA>GCA	p.G13A	SPTY2D1_uc010rdi.1_Missense_Mutation_p.G13A	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	13										breast(1)	1						GACACCTTGTCCCTTGGAAGC	0.547		NA											72	269					0	0	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955404	18955404	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18955404C>G	uc001mpg.2	-	1	1146	c.928G>C	c.(928-930)GAG>CAG	p.E310Q		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	310	Cytoplasmic (Potential).			EEI -> QET (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						AGGATTTCCTCAGGAAGCTGC	0.572		NA											40	83					0	0	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956074	18956074	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18956074G>T	uc001mpg.2	-	1	476	c.258C>A	c.(256-258)AGC>AGA	p.S86R		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	86	Helical; Name=2; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						TACTGATGAAGCTTAACAGGG	0.522		NA											46	135					4.22e-32	4.54e-32	1	0
SLC6A5	9152	broad.mit.edu	37	11	20658825	20658825	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:20658825C>G	uc001mqd.2	+	12	2118	c.1845C>G	c.(1843-1845)ATC>ATG	p.I615M	SLC6A5_uc009yic.2_Missense_Mutation_p.I380M	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	615	Helical; Name=9; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	GTTTCTTCATCATGGGTTTTC	0.532		NA											32	85					0	0	0	0
SLC5A12	159963	broad.mit.edu	37	11	26700349	26700349	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:26700349C>T	uc001mra.2	-	13	1802	c.1489G>A	c.(1489-1491)GAT>AAT	p.D497N	SLC5A12_uc001mrb.2_RNA	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	497	Extracellular (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						TACCAGGTATCAGCTATTCCA	0.468		NA											25	81					0	0	0	0
KIF18A	81930	broad.mit.edu	37	11	28045380	28045380	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:28045380G>A	uc001msc.2	-	16	2704	c.2522C>T	c.(2521-2523)TCG>TTG	p.S841L		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	841					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TGCAGTTAACGAACTGTTTGA	0.328		NA											23	73					0	0	0	0
KCNA4	3739	broad.mit.edu	37	11	30033388	30033388	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:30033388C>T	uc001msk.2	-	2	1990	c.838G>A	c.(838-840)GAA>AAA	p.E280K		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	280						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCCTGTCTTCCTCTTCTCTC	0.507		NA											32	95					0	0	0	0
DCDC1	341019	broad.mit.edu	37	11	31312293	31312293	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:31312293C>T	uc001msv.2	-	7	1063	c.861G>A	c.(859-861)AAG>AAA	p.K287K	DCDC1_uc001msu.1_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	287					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					CAGTAAGTTTCTTCATTCTAA	0.388		NA											38	94					0	0	0	0
CCDC73	493860	broad.mit.edu	37	11	32676499	32676499	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:32676499G>C	uc001mtv.2	-	10	709	c.665C>G	c.(664-666)TCA>TGA	p.S222*	CCDC73_uc001mtw.1_Nonsense_Mutation_p.S222*	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	222										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TATCAAGTCTGAGGCTGCTTT	0.299		NA											17	48					0	0	0	0
PRDM11	56981	broad.mit.edu	37	11	45241142	45241142	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:45241142G>C	uc001myo.2	+	7	927	c.678G>C	c.(676-678)GAG>GAC	p.E226D		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	226	SET.									upper_aerodigestive_tract(1)	1						TCTCCCGGGAGGAGAGGGAGC	0.662		NA											20	45					0	0	0	0
CKAP5	9793	broad.mit.edu	37	11	46801864	46801864	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:46801864C>G	uc001ndi.1	-	20	2423	c.2313G>C	c.(2311-2313)GTG>GTC	p.V771V	CKAP5_uc009ylg.1_Silent_p.V657V|CKAP5_uc001ndj.1_Silent_p.V771V	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	771	HEAT 4.				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CAGCAGTCCTCACAGCCTGCC	0.418		NA											12	42					0	0	0	0
C11orf49	79096	broad.mit.edu	37	11	47176813	47176813	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47176813G>A	uc001ndp.2	+	5	557	c.451_splice	c.e5+1	p.E151_splice	C11orf49_uc001nds.2_Splice_Site_p.E151_splice|C11orf49_uc001ndq.2_Splice_Site_p.E151_splice|C11orf49_uc001ndr.2_Splice_Site_p.E151_splice|C11orf49_uc010rgx.1_Splice_Site_p.E54_splice|C11orf49_uc010rgy.1_Splice_Site_p.E142_splice|C11orf49_uc010rgz.1_Splice_Site_p.E67_splice	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3												0						TACTACTCAGGTGAGTGTTCC	0.542		NA											64	217					0	0	0	0
AGBL2	79841	broad.mit.edu	37	11	47684621	47684621	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47684621G>A	uc001ngg.2	-	17	2592	c.2492C>T	c.(2491-2493)TCA>TTA	p.S831L	AGBL2_uc001ngf.2_RNA	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	831					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						GGTGGCCATTGATGGGTCCAG	0.353		NA											106	325					0	0	0	0
NUP160	23279	broad.mit.edu	37	11	47819408	47819408	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47819408C>G	uc001ngm.2	-	27	3297	c.3212G>C	c.(3211-3213)AGA>ACA	p.R1071T	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1071					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						GTCCACAGCTCTAGCACGTGA	0.438		NA											35	138					0	0	0	0
OR4A15	81328	broad.mit.edu	37	11	55135371	55135371	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55135371G>A	uc010rif.1	+	1	12	c.12G>A	c.(10-12)CTG>CTA	p.L4L		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGGAGCTTCTGACAAATAATC	0.408		NA											21	66					0	0	0	0
OR5L1	219437	broad.mit.edu	37	11	55579557	55579557	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55579557G>A	uc001nhw.1	+	1	615	c.615G>A	c.(613-615)TTG>TTA	p.L205L		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TGGCCACTTTGAATGAGAGTG	0.468		NA											71	229					0	0	0	0
SPRYD5	84767	broad.mit.edu	37	11	55659078	55659078	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55659078C>T	uc010rip.1	+	7	1421	c.1329C>T	c.(1327-1329)CTC>CTT	p.L443L	SPRYD5_uc010riq.1_Silent_p.L300L	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	443	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				CACCTCCTCTCAGGCCTATCT	0.453		NA											51	266					0	0	0	0
OR8H2	390151	broad.mit.edu	37	11	55872928	55872928	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55872928C>T	uc010riy.1	+	1	410	c.410C>T	c.(409-411)TCC>TTC	p.S137F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					GTTATTATGTCCAAAAGGCTC	0.468		NA								HNSCC(53;0.14)			116	280					0	0	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080763	57080763	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:57080763C>G	uc001njr.2	-	4	1711	c.1399G>C	c.(1399-1401)GAG>CAG	p.E467Q	TNKS1BP1_uc001njs.2_Missense_Mutation_p.E467Q|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	467	Pro-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				CAGTTGGACTCTGCCCCAAAG	0.672		NA											21	42					0	0	0	0
OR1S1	219959	broad.mit.edu	37	11	57982933	57982933	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:57982933G>A	uc010rkc.1	+	1	717	c.717G>A	c.(715-717)CTG>CTA	p.L239L		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				GAGCTGTCCTGAGAGTATCTT	0.438		NA											42	75					0	0	0	0
MTA2	9219	broad.mit.edu	37	11	62364201	62364201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:62364201C>A	uc001ntq.1	-	9	1171	c.790G>T	c.(790-792)GAG>TAG	p.E264*	MTA2_uc010rlx.1_Nonsense_Mutation_p.E91*	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	264	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TCCTCCATCTCATCCCGACAC	0.537		NA											54	110					9.55e-19	1.02e-18	1	0
UBXN1	51035	broad.mit.edu	37	11	62444320	62444320	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:62444320G>C	uc001nul.1	-	8	941	c.809C>G	c.(808-810)TCA>TGA	p.S270*	UBXN1_uc001nuj.2_Nonsense_Mutation_p.S270*|UBXN1_uc001num.1_Nonsense_Mutation_p.S266*|UBXN1_uc001nuk.2_3'UTR|UBXN1_uc010rme.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	270	UBX.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						GTCAGCTTCTGAGAAGGCCCG	0.592		NA											62	187					0	0	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072312	63072312	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:63072312G>C	uc009yor.2	+	9	1757	c.1549G>C	c.(1549-1551)GAA>CAA	p.E517Q	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	517	Extracellular (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						CCTCCTACCAGAAACCAAGAA	0.433		NA											51	208					0	0	0	0
SLC22A11	55867	broad.mit.edu	37	11	64323848	64323848	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:64323848C>G	uc001oai.2	+	1	751	c.377C>G	c.(376-378)TCC>TGC	p.S126C	SLC22A11_uc001oah.1_Missense_Mutation_p.S126C|SLC22A11_uc001oaj.2_Missense_Mutation_p.S126C|SLC22A11_uc009ypq.2_Missense_Mutation_p.S126C	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	126	Extracellular (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	GTCTTCACCTCCACCATCGTG	0.627		NA											14	36					0	0	0	0
ZFPL1	7542	broad.mit.edu	37	11	64853913	64853913	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:64853913G>A	uc001ocq.1	+	4	406	c.241G>A	c.(241-243)GAA>AAA	p.E81K	CDCA5_uc001ocp.2_5'Flank	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	81	RING-type; degenerate.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTGCCTCAATGAACGTGCTGC	0.592		NA											115	303					0	0	0	0
KDM2A	22992	broad.mit.edu	37	11	66985207	66985207	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:66985207C>T	uc001ojw.2	+	9	1557	c.693C>T	c.(691-693)TTC>TTT	p.F231F	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Intron	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	231	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CACAGGTCTTCTGGCTCATCC	0.483		NA											7	33					0	0	0	0
CPT1A	1374	broad.mit.edu	37	11	68575046	68575046	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:68575046C>G	uc001oog.3	-	4	512	c.342G>C	c.(340-342)CTG>CTC	p.L114L	CPT1A_uc001oof.3_Silent_p.L114L|CPT1A_uc009ysj.2_Silent_p.L114L	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	114	Helical; (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGGCCACCCACAGGCCGGTGC	0.607		NA											14	56					0	0	0	0
CTTN	2017	broad.mit.edu	37	11	70253636	70253636	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:70253636G>A	uc001opv.3	+	4	306	c.100G>A	c.(100-102)GAG>AAG	p.E34K	CTTN_uc001opu.2_Missense_Mutation_p.E34K|CTTN_uc001opw.3_Missense_Mutation_p.E34K	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	34						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGATGTGAGTGAGAAGGAGCA	0.552		NA											34	135					0	0	0	0
FCHSD2	9873	broad.mit.edu	37	11	72712082	72712082	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:72712082C>G	uc009ytl.2	-	5	561	c.340G>C	c.(340-342)GAG>CAG	p.E114Q	FCHSD2_uc010rrg.1_Intron|FCHSD2_uc001oth.3_Missense_Mutation_p.E58Q|FCHSD2_uc001oti.2_Missense_Mutation_p.E73Q	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	114							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTTGCAGGCTCAGAAATGAAG	0.368		NA											6	21					0	0	0	0
PGM2L1	283209	broad.mit.edu	37	11	74053568	74053568	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:74053568C>G	uc001ovb.1	-	12	1866	c.1570G>C	c.(1570-1572)GCT>CCT	p.A524P		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	524					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)					TGCAATATAGCAAATGTTCCA	0.323		NA											4	199					0	0	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74873772	74873772	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:74873772G>A	uc001owb.2	+	2	476	c.89G>A	c.(88-90)GGA>GAA	p.G30E	SLCO2B1_uc010rrp.1_RNA|SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Intron|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Missense_Mutation_p.G8E	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	30	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	AACACACCTGGAGGCAAAGCC	0.577		NA											111	237					0	0	0	0
RPS3	6188	broad.mit.edu	37	11	75111786	75111786	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:75111786C>T	uc001owh.2	+	2	109	c.79C>T	c.(79-81)CGG>TGG	p.R27W	RPS3_uc001owg.2_Missense_Mutation_p.R27W|RPS3_uc001owi.2_Missense_Mutation_p.R27W|RPS3_uc001owk.1_5'UTR	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	27	KH type-2.				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0						GTTTCTTACTCGGGAGCTGGC	0.438		NA											5	195					0	0	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062412	76062412	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:76062412G>A	uc001oxh.1	-	5	1782	c.1782C>T	c.(1780-1782)TTC>TTT	p.F594F	PRKRIR_uc010rrz.1_Silent_p.F419F	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	594					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						GCTGTTCTGAGAATATATCTT	0.418		NA											61	143					0	0	0	0
RSF1	51773	broad.mit.edu	37	11	77378293	77378293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:77378293G>C	uc001oyn.2	-	16	4115	c.3995C>G	c.(3994-3996)TCA>TGA	p.S1332*	RSF1_uc001oym.2_Nonsense_Mutation_p.S1080*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1332					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTGTTCTGAGGGCAGGAC	0.522		NA											61	153					0	0	0	0
KCTD21	283219	broad.mit.edu	37	11	77884871	77884871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:77884871G>A	uc001ozb.2	-	2	805	c.730C>T	c.(730-732)CAT>TAT	p.H244Y		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	244						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TCCAGAGCATGTGGGTGAGAA	0.478		NA											66	241					0	0	0	0
ME3	10873	broad.mit.edu	37	11	86160950	86160950	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:86160950G>C	uc001pbz.2	-	9	1366	c.1112C>G	c.(1111-1113)TCT>TGT	p.S371C	ME3_uc001pca.2_Missense_Mutation_p.S371C|ME3_uc009yvk.2_Missense_Mutation_p.S371C|ME3_uc010rtr.1_RNA	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	371					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GAGCCCTTTAGAGTCCACCAT	0.522		NA											75	160					0	0	0	0
CCDC67	159989	broad.mit.edu	37	11	93127665	93127665	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:93127665C>G	uc001pdq.2	+	10	1182	c.1082C>G	c.(1081-1083)TCT>TGT	p.S361C	CCDC67_uc001pdo.1_Missense_Mutation_p.S361C|CCDC67_uc001pdp.2_Missense_Mutation_p.S361C	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	361	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TACCATAACTCTGAGCAGGAA	0.393		NA											9	13					0	0	0	0
MED17	9440	broad.mit.edu	37	11	93523943	93523943	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:93523943G>A	uc001pem.3	+	3	896	c.621G>A	c.(619-621)CTG>CTA	p.L207L		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	207					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGGAGATCTGAGCTACAGAA	0.264		NA											16	69					0	0	0	0
CNTN5	53942	broad.mit.edu	37	11	99786823	99786823	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:99786823C>T	uc001pga.2	+	7	954	c.615C>T	c.(613-615)GTC>GTT	p.V205V	CNTN5_uc009ywv.1_Silent_p.V205V|CNTN5_uc001pfz.2_Silent_p.V205V|CNTN5_uc001pgb.2_Silent_p.V131V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	205	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAGTGCAGTCTCTGTGAGGG	0.453		NA											10	25					0	0	0	0
DDI1	414301	broad.mit.edu	37	11	103908514	103908514	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:103908514G>A	uc001phr.2	+	1	1207	c.964G>A	c.(964-966)GAG>AAG	p.E322K	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	322					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCCATACTTGAGGATCAACC	0.448		NA											47	156					0	0	0	0
TMPRSS5	80975	broad.mit.edu	37	11	113563881	113563881	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:113563881C>G	uc001poc.3	-	9	998	c.876G>C	c.(874-876)GAG>GAC	p.E292D	TMPRSS5_uc009yys.2_Missense_Mutation_p.E283D|TMPRSS5_uc009yyt.2_Missense_Mutation_p.E248D|TMPRSS5_uc001pod.3_Missense_Mutation_p.E33D|TMPRSS5_uc010rww.1_Missense_Mutation_p.E213D|TMPRSS5_uc009yyu.2_Missense_Mutation_p.E33D|TMPRSS5_uc010rwx.1_Missense_Mutation_p.E179D	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	292	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)	1		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		GGATAATCCTCTCCACCAGAG	0.637		NA											6	9					0	0	0	0
HTR3B	9177	broad.mit.edu	37	11	113816676	113816676	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:113816676C>T	uc001pok.2	+	9	1210	c.1143C>T	c.(1141-1143)GTC>GTT	p.V381V	HTR3B_uc001pol.2_Silent_p.V370V	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	381	Cytoplasmic (Potential).|HA-stretch.				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGAAGGAAGTCTGGTCGCAGC	0.572		NA											23	56					0	0	0	0
SIK3	23387	broad.mit.edu	37	11	116730264	116730264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:116730264G>A	uc001ppy.2	-	19	2200	c.2164C>T	c.(2164-2166)CAG>TAG	p.Q722*	SIK3_uc001ppz.2_Nonsense_Mutation_p.Q621*|SIK3_uc001pqa.2_Nonsense_Mutation_p.Q722*|SIK3_uc001ppw.2_Nonsense_Mutation_p.Q139*|SIK3_uc001ppx.2_Nonsense_Mutation_p.Q160*|SIK3_uc001pqb.2_Nonsense_Mutation_p.Q25*	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	722	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TCAGGTTGCTGCTGAAAGATT	0.552		NA									OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	29	104					0	0	0	0
PCSK7	9159	broad.mit.edu	37	11	117098989	117098989	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:117098989C>T	uc001pqr.2	-	4	747	c.546G>A	c.(544-546)ACG>ACA	p.T182T		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	182	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTACCACCACCGTCACCCCTC	0.582		NA	T	IGH@	MLCLS								12	24					0	0	0	0
CD3D	915	broad.mit.edu	37	11	118210614	118210614	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118210614C>G	uc001pss.1	-	3	419	c.282G>C	c.(280-282)CAG>CAC	p.Q94H	CD3D_uc001pst.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	CD3 antigen, delta subunit isoform A precursor	94	Extracellular (Potential).				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCACACAGCTCTGGCACACTG	0.547		NA											21	74					0	0	0	0
PHLDB1	23187	broad.mit.edu	37	11	118499169	118499169	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118499169C>T	uc001ptr.1	+	7	1983	c.1630C>T	c.(1630-1632)CTG>TTG	p.L544L	PHLDB1_uc001pts.2_Silent_p.L544L|PHLDB1_uc001ptt.2_Silent_p.L544L|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Silent_p.L344L|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	544											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCCTACAGTCTGGGCTCTCT	0.642		NA											11	24					0	0	0	0
MCAM	4162	broad.mit.edu	37	11	119185721	119185721	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:119185721G>A	uc001pwf.2	-	3	251	c.222C>T	c.(220-222)TTC>TTT	p.F74F		NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	74	Extracellular (Potential).|Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCGCACACGGAAGATGAGCG	0.647		NA											56	156					0	0	0	0
VSIG2	23584	broad.mit.edu	37	11	124621364	124621364	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:124621364C>G	uc001qas.2	-	2	250	c.174G>C	c.(172-174)GAG>GAC	p.E58D	VSIG2_uc001qat.2_Missense_Mutation_p.E58D	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	58	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CAAAGCTCCACTCCAGGGCGA	0.627		NA											34	112					0	0	0	0
CDON	50937	broad.mit.edu	37	11	125830980	125830980	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:125830980C>A	uc009zbw.2	-	20	3849	c.3721G>T	c.(3721-3723)GAA>TAA	p.E1241*	CDON_uc001qdb.3_Nonsense_Mutation_p.E595*|CDON_uc001qdc.3_Nonsense_Mutation_p.E1218*	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	1241	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATCTCTGTTTCTGAATGGGCA	0.443		NA											18	49					2.94e-08	3.06e-08	1	0
GLB1L3	112937	broad.mit.edu	37	11	134182365	134182365	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:134182365C>T	uc009zdf.2	+	14	1770	c.1410C>T	c.(1408-1410)CAC>CAT	p.H470H	GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	470					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGTGCCCACGCTCATGACG	0.587		NA											18	56					0	0	0	0
LRTM2	654429	broad.mit.edu	37	12	1943843	1943843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:1943843G>T	uc001qjt.2	+	5	1875	c.1069G>T	c.(1069-1071)GAG>TAG	p.E357*	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Nonsense_Mutation_p.E357*|LRTM2_uc010sdx.1_Nonsense_Mutation_p.E357*|LRTM2_uc001qjv.2_Nonsense_Mutation_p.E119*	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	357	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGGGACCCCGAGGGCGAGCA	0.652		NA											31	79					3.93e-24	4.21e-24	1	0
CACNA1C	775	broad.mit.edu	37	12	2774834	2774834	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:2774834G>C	uc009zdu.1	+	38	4943	c.4630G>C	c.(4630-4632)GAG>CAG	p.E1544Q	CACNA1C_uc009zdv.1_Missense_Mutation_p.E1493Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qke.2_Missense_Mutation_p.E1485Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1485Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1483Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1518Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1485Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1544Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qko.2_Missense_Mutation_p.E1516Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1513Q|CACNA1C_uc001qku.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1524Q|CACNA1C_uc001qks.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qki.1_Missense_Mutation_p.E1232Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1232Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1232Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1221Q|CACNA1C_uc010sea.1_Missense_Mutation_p.E187Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1544	Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.L1544V(1)		ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCACCTGGATGAGTTTAAAAG	0.493		NA											29	56					0	0	0	0
FKBP4	2288	broad.mit.edu	37	12	2907035	2907035	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:2907035G>C	uc001qkz.2	+	3	589	c.391G>C	c.(391-393)GAG>CAG	p.E131Q		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	FK506 binding protein 52	131	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging				0			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GCTTGTATTTGAGGTGAGTGT	0.552		NA											50	156					0	0	0	0
DYRK4	8798	broad.mit.edu	37	12	4705759	4705759	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:4705759C>A	uc001qmx.2	+	6	584	c.424C>A	c.(424-426)CAC>AAC	p.H142N	DYRK4_uc009zeh.1_Missense_Mutation_p.H257N|DYRK4_uc001qmy.1_Missense_Mutation_p.H142N	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	142	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			CCTTAGGTTTCACCAGCAGGC	0.527		NA											16	34					5.35e-07	5.55e-07	1	0
AKAP3	10566	broad.mit.edu	37	12	4737844	4737844	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:4737844C>G	uc001qnb.3	-	4	453	c.224G>C	c.(223-225)GGA>GCA	p.G75A		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	75					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GTGTGGGTCTCCTGAGTTGGA	0.488		NA											46	92					0	0	0	0
GNB3	2784	broad.mit.edu	37	12	6952355	6952355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:6952355C>A	uc001qrd.2	+	6	626	c.221C>A	c.(220-222)TCG>TAG	p.S74*	GNB3_uc001qrc.2_Nonsense_Mutation_p.S30*|GNB3_uc009zfe.2_Nonsense_Mutation_p.S74*	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	74	WD 1.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						GTAAGTGCCTCGCAAGATGGG	0.612		NA											45	145					2.38e-10	2.49e-10	1	0
RIMKLB	57494	broad.mit.edu	37	12	8906664	8906664	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:8906664G>C	uc001quu.2	+	5	923	c.672G>C	c.(670-672)GGG>GGC	p.G224G	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Silent_p.G224G|RIMKLB_uc010sgl.1_Silent_p.G224G|RIMKLB_uc001quw.2_Silent_p.G224G	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	224	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CAACAGATGGGAGAATGCAAA	0.383		NA											37	110					0	0	0	0
A2M	2	broad.mit.edu	37	12	9227270	9227270	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9227270G>C	uc001qvk.1	-	29	3755	c.3642C>G	c.(3640-3642)CTC>CTG	p.L1214L	A2M_uc001qvj.1_Silent_p.L256L|A2M_uc009zgk.1_Silent_p.L1064L	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1214					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TGAGATAAGCGAGGAGCACAT	0.587		NA											12	38					0	0	0	0
A2M	2	broad.mit.edu	37	12	9251338	9251338	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9251338G>C	uc001qvk.1	-	15	1829	c.1716C>G	c.(1714-1716)TTC>TTG	p.F572L	A2M_uc009zgk.1_Missense_Mutation_p.F422L	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	572					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GTGATGGGCTGAAGCTCAAAT	0.532		NA											3	16					0	0	0	0
KLRB1	3820	broad.mit.edu	37	12	9751250	9751250	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9751250C>G	uc010sgt.1	-	4	322	c.260_splice	c.e4-1	p.E87_splice		NM_002258	NP_002249	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B,						cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						CCCGGTCTCTCTAAAGTAAAA	0.378		NA											50	112					0	0	0	0
STYK1	55359	broad.mit.edu	37	12	10783759	10783759	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10783759T>C	uc001qys.2	-	5	857	c.336A>G	c.(334-336)CAA>CAG	p.Q112Q		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	112						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						CTTCAGAGAGTTGCTCCCGCG	0.527		NA								HNSCC(73;0.22)			31	96					0	0	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959018	10959018	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959018G>T	uc010shh.1	-	1	562	c.562C>A	c.(562-564)CTG>ATG	p.L188M		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	188	Helical; Name=5; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			ovary(2)	2						ATTGCAAACAGGTTAAAGAGA	0.333		NA											22	87					1.28e-07	1.33e-07	1	0
TAS2R8	50836	broad.mit.edu	37	12	10959027	10959027	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959027G>C	uc010shh.1	-	1	553	c.553C>G	c.(553-555)CTC>GTC	p.L185V		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	185	Helical; Name=5; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			ovary(2)	2						AGGTTAAAGAGAGTCAAGGGT	0.323		NA											19	82					0	0	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959148	10959148	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959148G>C	uc010shh.1	-	1	432	c.432C>G	c.(430-432)GTC>GTG	p.V144V		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	144	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			ovary(2)	2						CTATAAGGCTGACCAACAAGG	0.403		NA											21	87					0	0	0	0
GUCY2C	2984	broad.mit.edu	37	12	14769618	14769618	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:14769618C>G	uc001rcd.2	-	25	3056	c.2919G>C	c.(2917-2919)AAG>AAC	p.K973N		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	973	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						ACTCAGTTCTCTTCAGGATGG	0.428		NA											67	208					0	0	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054307	21054307	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:21054307T>G	uc001rek.2	+	14	1897	c.1771T>G	c.(1771-1773)TTT>GTT	p.F591V	SLCO1B3_uc001rel.2_Missense_Mutation_p.F591V|SLCO1B3_uc010sil.1_Missense_Mutation_p.F591V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.F416V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	591	Helical; Name=11; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TCCAATATATTTTGGGGCTCT	0.378		NA											71	169					0	0	0	0
CASC1	55259	broad.mit.edu	37	12	25267694	25267694	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:25267694G>C	uc001rgl.2	-	12	1571	c.1489C>G	c.(1489-1491)CAT>GAT	p.H497D	CASC1_uc001rgk.2_Missense_Mutation_p.H503D|CASC1_uc001rgm.3_Missense_Mutation_p.H561D|CASC1_uc001rgj.2_Missense_Mutation_p.H457D|CASC1_uc010sje.1_Missense_Mutation_p.H438D|CASC1_uc010sjf.1_Missense_Mutation_p.H385D|CASC1_uc010sjg.1_3'UTR	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	497										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATGTTAATATGAGCATCTTGA	0.378		NA											41	112					0	0	0	0
DDX11	1663	broad.mit.edu	37	12	31237969	31237969	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:31237969G>A	uc001rjt.1	+	5	798	c.547G>A	c.(547-549)GAG>AAG	p.E183K	DDX11_uc010sjw.1_Missense_Mutation_p.E183K|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.E183K|DDX11_uc001rjs.1_Missense_Mutation_p.E183K|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E183K|DDX11_uc001rjw.1_Missense_Mutation_p.E157K|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	183	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GACAGGCCCGGAGGCTGAGCG	0.597		NA								Multiple Myeloma(12;0.14)			7	18					0	0	0	0
SYT10	341359	broad.mit.edu	37	12	33592455	33592455	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:33592455C>T	uc001rll.1	-	1	300	c.3G>A	c.(1-3)ATG>ATA	p.M1I	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	1	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGTGGAAACTCATCGTTTGGC	0.542		NA											78	234					0	0	0	0
KIF21A	55605	broad.mit.edu	37	12	39713804	39713804	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:39713804G>C	uc001rly.2	-	28	3829	c.3683C>G	c.(3682-3684)TCA>TGA	p.S1228*	KIF21A_uc001rlv.2_Nonsense_Mutation_p.S233*|KIF21A_uc001rlw.2_Nonsense_Mutation_p.S545*|KIF21A_uc001rlx.2_Nonsense_Mutation_p.S1215*|KIF21A_uc001rlz.2_Nonsense_Mutation_p.S1192*|KIF21A_uc010skl.1_Nonsense_Mutation_p.S1208*|KIF21A_uc001rlu.2_5'UTR	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1228					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TGATAGAGATGACTGCCTGGA	0.328		NA											11	53					0	0	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966788	41966788	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:41966788C>T	uc010skn.1	+	10	1678	c.1610C>T	c.(1609-1611)TCT>TTT	p.S537F	PDZRN4_uc001rmq.3_Missense_Mutation_p.S478F|PDZRN4_uc009zjz.2_Missense_Mutation_p.S476F|PDZRN4_uc001rmr.2_Missense_Mutation_p.S363F	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	736							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGGACAGTTCTAGTGCTTAC	0.473		NA											35	115					0	0	0	0
TMEM117	84216	broad.mit.edu	37	12	44605135	44605135	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:44605135C>G	uc001rod.2	+	5	639	c.573C>G	c.(571-573)TTC>TTG	p.F191L	TMEM117_uc001roe.2_Missense_Mutation_p.F87L|TMEM117_uc009zkc.2_Missense_Mutation_p.F191L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	191						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGAGCTTTCTGGAAGAAAG	0.393		NA											3	124					0	0	0	0
DDN	23109	broad.mit.edu	37	12	49391866	49391866	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:49391866C>T	uc001rsv.1	-	2	811	c.793G>A	c.(793-795)GAC>AAC	p.D265N	uc001rsw.2_5'Flank	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	265						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				large_intestine(1)	1						CGCCCTCCGTCTGTCCTGGCT	0.637		NA											32	97					0	0	0	0
KCNH3	23416	broad.mit.edu	37	12	49942877	49942877	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:49942877C>T	uc001ruh.1	+	8	1649	c.1389C>T	c.(1387-1389)CTC>CTT	p.L463L	KCNH3_uc010smj.1_Silent_p.L403L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	463					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						TCAGCAGCCTCACCAGCGTGG	0.682		NA											19	43					0	0	0	0
DIP2B	57609	broad.mit.edu	37	12	51116990	51116990	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:51116990G>C	uc001rwv.2	+	27	3328	c.3172G>C	c.(3172-3174)GAG>CAG	p.E1058Q	DIP2B_uc009zlt.2_Missense_Mutation_p.E488Q	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1058						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TGCAGGCATTGAGTTAATCGC	0.498		NA											48	171					0	0	0	0
SLC4A8	9498	broad.mit.edu	37	12	51890879	51890879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:51890879G>A	uc001rys.1	+	22	3230	c.3052G>A	c.(3052-3054)GAT>AAT	p.D1018N	SLC4A8_uc001rym.2_Missense_Mutation_p.D965N|SLC4A8_uc001ryn.2_Missense_Mutation_p.D965N|SLC4A8_uc001ryo.2_Missense_Mutation_p.D965N|SLC4A8_uc010snj.1_Missense_Mutation_p.D1045N|SLC4A8_uc001ryr.2_Missense_Mutation_p.D1018N	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	1018	Cytoplasmic (Potential).|Potential.				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAGTTGGATGATGCCAAAAA	0.453		NA											32	118					0	0	0	0
HOXC4	3221	broad.mit.edu	37	12	54448756	54448756	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:54448756G>A	uc001seu.2	+	4	1242	c.562G>A	c.(562-564)GAG>AAG	p.E188K	HOXC4_uc001sex.2_Missense_Mutation_p.E188K	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	188	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAGAAGGATCGAGATCGCCCA	0.532		NA											19	41					0	0	0	0
OR9K2	441639	broad.mit.edu	37	12	55524495	55524495	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:55524495C>G	uc010spe.1	+	1	943	c.943C>G	c.(943-945)CTG>GTG	p.L315V		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						GATTTACTCTCTGAGGAACAA	0.343		NA											69	170					0	0	0	0
OR6C3	254786	broad.mit.edu	37	12	55726127	55726127	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:55726127T>C	uc010spj.1	+	1	643	c.643T>C	c.(643-645)TAC>CAC	p.Y215H		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	215	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GATTTTATCTTACATGTACAT	0.363		NA											76	193					0	0	0	0
ERBB3	2065	broad.mit.edu	37	12	56495415	56495416	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:56495415_56495416GG>AC	uc001sjh.2	+	28	3798_3799	c.3605_3606GG>AC	c.(3604-3606)CGG>CAC	p.R1202H	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.R559H|ERBB3_uc010sqc.1_Missense_Mutation_p.R1143H|ERBB3_uc009zok.2_Missense_Mutation_p.R467H|ERBB3_uc001sjk.2_Missense_Mutation_p.R443H|ERBB3_uc001sjl.2_Missense_Mutation_p.R322H|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1202	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACATGAACCGGAGGAGAAGGC	0.54		NA											38	88					0	0	0	0
LRP1	4035	broad.mit.edu	37	12	57601825	57601825	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:57601825C>T	uc001snd.2	+	77	12330	c.11864C>T	c.(11863-11865)TCA>TTA	p.S3955L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3955	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATTCAGATTTCAGGGCTGAAG	0.602		NA											13	27					0	0	0	0
XPOT	11260	broad.mit.edu	37	12	64818849	64818849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:64818849G>T	uc001ssb.2	+	13	1765	c.1339G>T	c.(1339-1341)GAA>TAA	p.E447*		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	447	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		TATGGAAGTTGAAGTAGCAAT	0.383		NA											61	143					2.73e-28	2.94e-28	1	0
ZDHHC17	23390	broad.mit.edu	37	12	77216299	77216299	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:77216299G>A	uc001syk.1	+	8	1048	c.885G>A	c.(883-885)CTG>CTA	p.L295L	ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	295	Cytoplasmic (Potential).				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0						TTAGAAAGCTGAAAGCTGATA	0.254		NA											7	21					0	0	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80239130	80239130	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:80239130C>G	uc001syz.2	-	3	706	c.439G>C	c.(439-441)GAG>CAG	p.E147Q	PPP1R12A_uc010suc.1_Missense_Mutation_p.E60Q|PPP1R12A_uc001sza.2_Missense_Mutation_p.E147Q|PPP1R12A_uc010sud.1_Missense_Mutation_p.E147Q|PPP1R12A_uc001szb.2_Missense_Mutation_p.E147Q|PPP1R12A_uc001szc.2_Missense_Mutation_p.E147Q	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	147	ANK 4.					contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						GCCTCCTCCTCCGCAATATCT	0.373		NA											13	35					0	0	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450043	85450043	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:85450043G>C	uc001tac.2	+	8	1583	c.1472G>C	c.(1471-1473)CGA>CCA	p.R491P	LRRIQ1_uc001tab.1_Missense_Mutation_p.R491P|LRRIQ1_uc001taa.1_Missense_Mutation_p.R466P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	491										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GCAAAAAAACGATGTTCAGAA	0.289		NA											16	62					0	0	0	0
USP44	84101	broad.mit.edu	37	12	95927813	95927813	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:95927813C>T	uc001teg.2	-	2	364	c.220G>A	c.(220-222)GAG>AAG	p.E74K	USP44_uc001teh.2_Missense_Mutation_p.E74K|USP44_uc009zte.2_Missense_Mutation_p.E71K	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	74	UBP-type.				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						ACGTACATCTCATTCACCTCC	0.408		NA									OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	82					0	0	0	0
AMDHD1	144193	broad.mit.edu	37	12	96348697	96348697	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:96348697G>A	uc001tel.1	+	3	359	c.253G>A	c.(253-255)GAT>AAT	p.D85N	AMDHD1_uc009zth.1_Intron	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	85					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)	1						AGGTTTGGTGGATGCACACAC	0.393		NA											28	78					0	0	0	0
APAF1	317	broad.mit.edu	37	12	99077046	99077046	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:99077046C>A	uc001tfz.2	+	15	2749	c.2172C>A	c.(2170-2172)TTC>TTA	p.F724L	APAF1_uc001tfy.2_Missense_Mutation_p.F713L|APAF1_uc001tga.2_Missense_Mutation_p.F713L|APAF1_uc001tgb.2_Missense_Mutation_p.F724L|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.F133L	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	724	WD 3.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	GTGACTGCTTCCTCAAAGTAA	0.363		NA											64	184					1.36e-18	1.45e-18	1	0
UTP20	27340	broad.mit.edu	37	12	101767494	101767494	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:101767494G>C	uc001tia.1	+	54	7236	c.7080G>C	c.(7078-7080)GAG>GAC	p.E2360D		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2360					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						TCAGCCTCGAGAAAAAAGATT	0.423		NA											39	75					0	0	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036216	102036216	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102036216G>A	uc001tii.2	+	9	712	c.610G>A	c.(610-612)GAA>AAA	p.E204K	MYBPC1_uc001tif.1_Missense_Mutation_p.E217K|MYBPC1_uc001tig.2_Missense_Mutation_p.E229K|MYBPC1_uc010svq.1_Missense_Mutation_p.E191K|MYBPC1_uc001tih.2_Missense_Mutation_p.E229K|MYBPC1_uc001tij.2_Missense_Mutation_p.E204K|MYBPC1_uc010svr.1_Missense_Mutation_p.E204K|MYBPC1_uc010svs.1_Missense_Mutation_p.E204K|MYBPC1_uc010svt.1_Missense_Mutation_p.E192K|MYBPC1_uc010svu.1_Missense_Mutation_p.E185K|MYBPC1_uc001tik.2_Missense_Mutation_p.E178K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	204					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GCAGCAGGAGGAAGAACCCCA	0.532		NA											9	29					0	0	0	0
CCDC53	51019	broad.mit.edu	37	12	102439861	102439861	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102439861C>G	uc010svw.1	-	3	346	c.187G>C	c.(187-189)GAA>CAA	p.E63Q	CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.E63Q	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	63	Potential.					WASH complex	protein binding				0						AGAGTTGTTTCAATTTGTTGG	0.284		NA											3	13					0	0	0	0
C12orf48	55010	broad.mit.edu	37	12	102572517	102572517	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102572517C>T	uc001tjf.2	+	8	1265	c.1153C>T	c.(1153-1155)CAT>TAT	p.H385Y	C12orf48_uc001tjg.2_Missense_Mutation_p.H304Y|C12orf48_uc010swa.1_Missense_Mutation_p.H462Y|C12orf48_uc001tjh.2_Missense_Mutation_p.H304Y|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.H100Y|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	385					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						CACAATCCATCATCATGGAAC	0.303		NA											21	58					0	0	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105420410	105420410	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:105420410C>T	uc001tlc.2	-	22	2756	c.2629G>A	c.(2629-2631)GGA>AGA	p.G877R	ALDH1L2_uc009zuo.2_Missense_Mutation_p.G332R|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	877	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						AAAACAGTTCCTGCTTCCAGT	0.413		NA											6	288					0	0	0	0
PRDM4	11108	broad.mit.edu	37	12	108134781	108134781	+	Silent	SNP	G	G	A	rs145990889		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:108134781G>A	uc001tmp.2	-	10	2303	c.1866C>T	c.(1864-1866)TTC>TTT	p.F622F	PRDM4_uc010sww.1_Silent_p.F29F|PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	622	C2H2-type 2.				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CCTTGCTACAGAAATCACACT	0.458		NA											79	187					0	0	0	0
TCTN1	79600	broad.mit.edu	37	12	111082789	111082789	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111082789C>T	uc009zvs.2	+	12	1457	c.1349C>T	c.(1348-1350)CCG>CTG	p.P450L	TCTN1_uc001trp.3_Missense_Mutation_p.P436L|TCTN1_uc001trn.3_Missense_Mutation_p.P450L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	450					multicellular organismal development	extracellular region					0						GGAGCTCTCCCGTGTCAGCTC	0.517		NA											46	147					0	0	0	0
HVCN1	84329	broad.mit.edu	37	12	111099112	111099112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111099112C>T	uc001trs.1	-	4	328	c.163G>A	c.(163-165)GAG>AAG	p.E55K	HVCN1_uc001trq.1_Missense_Mutation_p.E55K|HVCN1_uc001trt.1_Missense_Mutation_p.E55K|HVCN1_uc010syd.1_Missense_Mutation_p.E35K	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Cytoplasmic (Potential).|Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						GGTGGCTGctcctcctcctcc	0.517		NA											19	50					0	0	0	0
SH2B3	10019	broad.mit.edu	37	12	111885521	111885521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111885521C>T	uc001tse.2	+	7	1655	c.1298C>T	c.(1297-1299)TCG>TTG	p.S433L	SH2B3_uc010syf.1_Missense_Mutation_p.S433L|SH2B3_uc001tsf.2_Missense_Mutation_p.S434L|SH2B3_uc010syg.1_Missense_Mutation_p.S231L	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	433	SH2.				blood coagulation	cytosol	signal transducer activity			ovary(1)	1						CACTTTCCCTCGGTCGTGGAC	0.667		NA											31	71					0	0	0	0
ACAD10	80724	broad.mit.edu	37	12	112140045	112140045	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:112140045G>A	uc001tsq.2	+	3	467	c.267G>A	c.(265-267)ATG>ATA	p.M89I	ACAD10_uc009zvw.2_Missense_Mutation_p.M89I|ACAD10_uc001tso.3_Missense_Mutation_p.M89I|ACAD10_uc001tsp.2_Missense_Mutation_p.M89I|ACAD10_uc009zvx.2_Missense_Mutation_p.M89I	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	89							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GGCCCTGGATGAGATTTATGA	0.403		NA											70	162					0	0	0	0
C12orf51	283450	broad.mit.edu	37	12	112711540	112711540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:112711540G>A	uc009zwc.2	-	4	583	c.565C>T	c.(565-567)CAG>TAG	p.Q189*	C12orf51_uc010syk.1_Nonsense_Mutation_p.Q12*|C12orf51_uc001tts.2_Nonsense_Mutation_p.Q12*|C12orf51_uc001ttt.3_Nonsense_Mutation_p.Q12*	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TTACACCACTGATCGATATAG	0.473		NA											51	136					0	0	0	0
TBX5	6910	broad.mit.edu	37	12	114837439	114837439	+	Splice_Site	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:114837439T>G	uc001tvo.2	-	4	738	c.243_splice	c.e4-1	p.R81_splice	TBX5_uc001tvp.2_Splice_Site_p.R81_splice|TBX5_uc001tvq.2_Splice_Site_p.R31_splice|TBX5_uc010syv.1_Splice_Site_p.R81_splice	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1						cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AACATCCGCCTAAGAGAGAGG	0.478		NA											45	125					0	0	0	0
WSB2	55884	broad.mit.edu	37	12	118473077	118473077	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:118473077G>T	uc001twr.2	-	7	984	c.886C>A	c.(886-888)CTG>ATG	p.L296M	WSB2_uc010sza.1_Missense_Mutation_p.L71M|WSB2_uc010szb.1_Missense_Mutation_p.L86M|WSB2_uc009zws.1_Missense_Mutation_p.L296M	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	296	WD 5.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGATCTCAGTGAGCTAATG	0.537		NA									OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	68					9.65e-13	1.02e-12	1	0
PRKAB1	5564	broad.mit.edu	37	12	120111803	120111803	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:120111803G>C	uc009zwu.2	+	4	461	c.358G>C	c.(358-360)GAA>CAA	p.E120Q	PRKAB1_uc001txg.2_Missense_Mutation_p.E120Q	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	120					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	GGATCTGCCGGAAGGAGAGCA	0.567		NA											27	139					0	0	0	0
OASL	8638	broad.mit.edu	37	12	121469368	121469368	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:121469368G>C	uc001tzj.1	-	3	540	c.534C>G	c.(532-534)ATC>ATG	p.I178M	OASL_uc001tzk.1_Missense_Mutation_p.I178M	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	178					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCAGGCCTTGATCAGGCTCA	0.557		NA											45	86					0	0	0	0
DNAH10	196385	broad.mit.edu	37	12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:124325980C>T	uc001uft.3	+	29	4919	c.4894C>T	c.(4894-4896)CGG>TGG	p.R1632W		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453		NA											5	247					0	0	0	0
DHX37	57647	broad.mit.edu	37	12	125449160	125449160	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:125449160G>A	uc001ugy.2	-	15	1924	c.1825C>T	c.(1825-1827)CCA>TCA	p.P609S		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	609	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCTCCGGTGGAGGCTTAAAG	0.547		NA											19	61					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	126136994	126136994	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:126136994C>T	uc001uhe.1	+	8	1915	c.1907C>T	c.(1906-1908)TCG>TTG	p.S636L	TMEM132B_uc001uhf.1_Missense_Mutation_p.S148L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	636	Extracellular (Potential).					integral to membrane		p.S636L(1)		skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGGTCCTCTCGCCGTTGTCT	0.567		NA											16	32					0	0	0	0
LATS2	26524	broad.mit.edu	37	13	21565498	21565498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:21565498C>T	uc009zzs.2	-	3	753	c.388G>A	c.(388-390)GAG>AAG	p.E130K	LATS2_uc001unr.3_Missense_Mutation_p.E130K	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	130	UBA.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AGGGCGGCCTCGATGCTCCTG	0.577		NA											15	65					0	0	0	0
SKA3	221150	broad.mit.edu	37	13	21729931	21729931	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:21729931G>C	uc001unt.2	-	8	1233	c.1139C>G	c.(1138-1140)TCA>TGA	p.S380*	SKA3_uc001unv.2_Nonsense_Mutation_p.S298*|SKA3_uc001unu.2_Intron	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	380					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0						AGCTAGGTTTGAGTTGTATTT	0.333		NA											29	118					0	0	0	0
RNF17	56163	broad.mit.edu	37	13	25374667	25374667	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:25374667A>C	uc001upr.2	+	13	1794	c.1753A>C	c.(1753-1755)AAT>CAT	p.N585H	RNF17_uc010tdd.1_Missense_Mutation_p.N444H|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.N585H|RNF17_uc001ups.2_Missense_Mutation_p.N524H	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	585					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGTTCCACAGAATTCAGTAAG	0.373		NA											4	84					0	0	0	0
RNF17	56163	broad.mit.edu	37	13	25448363	25448363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:25448363C>A	uc001upr.2	+	33	4600	c.4559C>A	c.(4558-4560)TCA>TAA	p.S1520*	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Nonsense_Mutation_p.S1516*|RNF17_uc001ups.2_Nonsense_Mutation_p.S1459*|RNF17_uc010aac.2_Nonsense_Mutation_p.S712*|RNF17_uc010aad.2_Nonsense_Mutation_p.S530*	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1520	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GATTATGGATCAACTGCAAAG	0.294		NA											18	86					3.53e-06	3.64e-06	1	0
RNF6	6049	broad.mit.edu	37	13	26793630	26793630	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:26793630G>C	uc001uqo.2	-	3	448	c.157C>G	c.(157-159)CGG>GGG	p.R53G	RNF6_uc001uqn.1_Missense_Mutation_p.R53G|RNF6_uc010aak.2_Missense_Mutation_p.R53G|RNF6_uc001uqp.2_Missense_Mutation_p.R53G|RNF6_uc001uqq.2_Missense_Mutation_p.R53G|RNF6_uc010tdk.1_Translation_Start_Site	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	53					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCATAAGCCGATAATCTTCA	0.383		NA											4	141					0	0	0	0
SLC46A3	283537	broad.mit.edu	37	13	29286950	29286950	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:29286950C>G	uc001usi.2	-	2	1897	c.927G>C	c.(925-927)TTG>TTC	p.L309F	SLC46A3_uc001usg.2_Missense_Mutation_p.L234F|SLC46A3_uc001usj.2_Missense_Mutation_p.L309F|SLC46A3_uc001ush.2_Missense_Mutation_p.L309F|SLC46A3_uc001usk.2_Missense_Mutation_p.L234F	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	309	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		GGAAACTAGTCAAAAAAGAGG	0.383		NA											30	81					0	0	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287679	29287679	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:29287679C>G	uc001usi.2	-	2	1168	c.198G>C	c.(196-198)CAG>CAC	p.Q66H	SLC46A3_uc001usg.2_5'UTR|SLC46A3_uc001usj.2_Missense_Mutation_p.Q66H|SLC46A3_uc001ush.2_Missense_Mutation_p.Q66H|SLC46A3_uc001usk.2_5'UTR	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	66	Extracellular (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		ACACTTTTTTCTGAACTTCCT	0.353		NA											14	35					0	0	0	0
KATNAL1	84056	broad.mit.edu	37	13	30854258	30854258	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:30854258G>C	uc001uss.2	-	3	366	c.265C>G	c.(265-267)CAA>GAA	p.Q89E	KATNAL1_uc001ust.2_Missense_Mutation_p.Q89E	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	89						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GGTTCATCTTGACAGGACACA	0.393		NA											18	51					0	0	0	0
FRY	10129	broad.mit.edu	37	13	32776558	32776558	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:32776558C>G	uc001utx.2	+	31	4408	c.3912C>G	c.(3910-3912)CTC>CTG	p.L1304L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAAGTATTCTCTATGGAACAC	0.478		NA											10	126					0	0	0	0
RFC3	5983	broad.mit.edu	37	13	34395395	34395395	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:34395395C>G	uc001uuz.2	+	2	324	c.214C>G	c.(214-216)CAG>GAG	p.Q72E	RFC3_uc001uva.2_Missense_Mutation_p.Q72E|RFC3_uc010ted.1_Missense_Mutation_p.Q72E	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	72					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AATTGAACATCAGACCATCAC	0.418		NA											4	127					0	0	0	0
POSTN	10631	broad.mit.edu	37	13	38153456	38153456	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:38153456C>T	uc001uwo.3	-	13	1819	c.1701G>A	c.(1699-1701)CTG>CTA	p.L567L	POSTN_uc010tet.1_Silent_p.L95L|POSTN_uc001uwp.3_Silent_p.L567L|POSTN_uc001uwr.2_Silent_p.L567L|POSTN_uc001uwq.2_Silent_p.L567L|POSTN_uc010teu.1_Silent_p.L567L|POSTN_uc010tev.1_Silent_p.L567L|POSTN_uc010tew.1_Silent_p.L567L|POSTN_uc010tex.1_Silent_p.L482L	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	567	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCCTGGTGTCAGGTGATAAA	0.323		NA											8	127					0	0	0	0
LHFP	10186	broad.mit.edu	37	13	40174981	40174981	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:40174981G>C	uc001uxf.2	-	2	884	c.373C>G	c.(373-375)CAG>GAG	p.Q125E		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	125	Helical; (Potential).					integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)|breast(1)	4		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CCAAGAAACTGAATTCCTCCA	0.483		NA	T	HMGA2	lipoma								30	76					0	0	0	0
KIAA0564	23078	broad.mit.edu	37	13	42393495	42393495	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:42393495G>A	uc001uyj.2	-	15	1798	c.1728C>T	c.(1726-1728)TTC>TTT	p.F576F	KIAA0564_uc001uyk.2_Silent_p.F576F	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	576						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CAATGATTCTGAAGGAGGGAT	0.368		NA											22	66					0	0	0	0
AKAP11	11215	broad.mit.edu	37	13	42872840	42872840	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:42872840G>A	uc001uys.1	+	7	698	c.523G>A	c.(523-525)GAT>AAT	p.D175N		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	175					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGATGATGATGATACTAACCA	0.403		NA											37	106					0	0	0	0
TSC22D1	8848	broad.mit.edu	37	13	45008797	45008797	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45008797G>T	uc001uzn.3	-	3	3678	c.3187C>A	c.(3187-3189)CAG>AAG	p.Q1063K	TSC22D1_uc001uzo.1_Intron|TSC22D1_uc001uzm.3_Missense_Mutation_p.Q134K	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	1063					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GATGCTGGCTGGGCGGGGGGC	0.652		NA											6	33					0.00307968	0.003127	1	0
TSC22D1	8848	broad.mit.edu	37	13	45008999	45008999	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45008999C>T	uc001uzn.3	-	3	3476	c.2985G>A	c.(2983-2985)TTG>TTA	p.L995L	TSC22D1_uc001uzo.1_Intron|TSC22D1_uc001uzm.3_Silent_p.L66L	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	995					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCGCATACATCAAATGGCTTT	0.378		NA											57	191					0	0	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149590	45149590	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45149590C>G	uc001uzn.3	-	1	1112	c.621G>C	c.(619-621)CAG>CAC	p.Q207H	TSC22D1_uc001uzo.1_Missense_Mutation_p.Q207H	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	207	His-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCACAACATTCTGTTGTGGAA	0.353		NA											10	33					0	0	0	0
HTR2A	3356	broad.mit.edu	37	13	47409577	47409577	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:47409577C>G	uc001vbq.2	-	3	945	c.811G>C	c.(811-813)GAT>CAT	p.D271H	HTR2A_uc001vbr.2_Missense_Mutation_p.D171H|HTR2A_uc010acr.2_Missense_Mutation_p.D271H	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	271	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTGCCAAGATCACTTACACAC	0.453		NA											26	66					0	0	0	0
C13orf1	57213	broad.mit.edu	37	13	50489231	50489231	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:50489231C>G	uc001vdl.2	-	5	821	c.559G>C	c.(559-561)GAA>CAA	p.E187Q	C13orf1_uc001vdm.2_Missense_Mutation_p.E148Q|C13orf1_uc010tgm.1_RNA	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	chromosome 13 open reading frame 1 isoform 1	187											0		Lung NSC(96;7.5e-06)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Acute lymphoblastic leukemia(7;0.117)		GBM - Glioblastoma multiforme(99;1.72e-10)|COAD - Colon adenocarcinoma(199;0.208)		AATATTTTTTCAAAACCAGGT	0.279		NA											14	79					0	0	0	0
DHRS12	79758	broad.mit.edu	37	13	52348132	52348132	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:52348132C>T	uc001vfq.2	-	7	597	c.549G>A	c.(547-549)CTG>CTA	p.L183L	DHRS12_uc001vfr.1_Silent_p.L134L|DHRS12_uc001vfs.1_Silent_p.L134L			A0PJE2	DHR12_HUMAN	RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;	183							binding|oxidoreductase activity				0		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATTGGTGTTCAGTTTCTGAA	0.443		NA											33	100					0	0	0	0
RNF219	79596	broad.mit.edu	37	13	79190259	79190259	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:79190259G>A	uc001vkw.1	-	6	1696	c.1637C>T	c.(1636-1638)TCA>TTA	p.S546L	uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.S356L|RNF219_uc010afc.2_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	546	Ser-rich.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTCTGACTCTGACATCATTGA	0.413		NA											50	210					0	0	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329668	88329668	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:88329668C>G	uc001vln.2	+	2	2244	c.2025C>G	c.(2023-2025)ATC>ATG	p.I675M	SLITRK5_uc010tic.1_Missense_Mutation_p.I434M	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	675	Helical; (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGTTTTCATCATGTCCGTCT	0.617		NA											14	61					0	0	0	0
HS6ST3	266722	broad.mit.edu	37	13	96743704	96743704	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:96743704C>G	uc001vmw.2	+	1	612	c.588C>G	c.(586-588)CTC>CTG	p.L196L		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	196	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGACGTGGCTCTTCTCCCGCT	0.637		NA											3	18					0	0	0	0
DOCK9	23348	broad.mit.edu	37	13	99549807	99549807	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:99549807G>C	uc001vnt.2	-	15	1702	c.1647C>G	c.(1645-1647)ATC>ATG	p.I549M	DOCK9_uc001vnw.2_Missense_Mutation_p.I548M|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.I549M|DOCK9_uc010tis.1_Missense_Mutation_p.I548M|DOCK9_uc010tit.1_Missense_Mutation_p.I549M|DOCK9_uc010afu.1_Missense_Mutation_p.I364M	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	549					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTGCCTGTAGATGGCAGAAA	0.388		NA											57	275					0	0	0	0
ERCC5	2073	broad.mit.edu	37	13	103514472	103514472	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:103514472C>G	uc001vpw.2	+	8	1416	c.973C>G	c.(973-975)CCA>GCA	p.P325A	ERCC5_uc001vpu.1_Missense_Mutation_p.P779A|ERCC5_uc010tjb.1_Missense_Mutation_p.P325A|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.P157A	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	325					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGTCATCTCCATGTGAAAA	0.453		NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				4	291					0	0	0	0
MYO16	23026	broad.mit.edu	37	13	109438029	109438029	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:109438029T>C	uc001vqt.1	+	5	614	c.488T>C	c.(487-489)TTA>TCA	p.L163S	MYO16_uc010agk.1_Missense_Mutation_p.L185S	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	163	ANK 4.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATATCCCATTAGATTATGCT	0.333		NA											13	119					0	0	0	0
MYO16	23026	broad.mit.edu	37	13	109496836	109496836	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:109496836G>A	uc001vqt.1	+	10	1303	c.1177G>A	c.(1177-1179)GAG>AAG	p.E393K	MYO16_uc010agk.1_Missense_Mutation_p.E415K|MYO16_uc001vqu.1_Missense_Mutation_p.E193K	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	393					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CACCAAACCCGAGCAGGTAAT	0.388		NA											18	63					0	0	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111927983	111927983	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:111927983C>T	uc001vrs.2	+	13	1690	c.1440C>T	c.(1438-1440)GTC>GTT	p.V480V	ARHGEF7_uc001vrr.2_Silent_p.V459V|ARHGEF7_uc001vrt.2_Silent_p.V430V|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Silent_p.V302V|ARHGEF7_uc001vrv.3_Silent_p.V302V|ARHGEF7_uc001vrw.3_Silent_p.V302V|ARHGEF7_uc001vrx.3_Silent_p.V302V|ARHGEF7_uc010tjo.1_Silent_p.V377V|ARHGEF7_uc010tjp.1_Silent_p.V224V|ARHGEF7_uc010agn.1_Silent_p.V224V	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	480	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGGCAACGTCACTTACATGT	0.537		NA											4	216					0	0	0	0
OR11H4	390442	broad.mit.edu	37	14	20711066	20711066	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:20711066C>T	uc010tld.1	+	1	116	c.116C>T	c.(115-117)TCA>TTA	p.S39L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	39	Helical; Name=1; (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)		TTCCTCTTCTCATTGTTTTTG	0.448		NA											29	177					0	0	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781915	20781915	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:20781915C>G	uc001vwv.2	-	6	992	c.343G>C	c.(343-345)GAG>CAG	p.E115Q	CCNB1IP1_uc001vww.2_Missense_Mutation_p.E115Q|CCNB1IP1_uc001vwx.2_Missense_Mutation_p.E115Q|CCNB1IP1_uc001vwy.2_Missense_Mutation_p.E115Q|CCNB1IP1_uc001vwz.2_Missense_Mutation_p.E115Q	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1 isoform 3	115						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	soft_tissue(2)|ovary(1)	3	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AGATGGCCCTCAGCCTTGCTG	0.373		NA	T	HMGA2	leiomyoma								112	77					0	0	0	0
MYH7	4625	broad.mit.edu	37	14	23882971	23882971	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:23882971C>G	uc001wjx.2	-	39	5893	c.5787G>C	c.(5785-5787)ACG>ACC	p.T1929T		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1929	Potential.		T -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACCCACCTTCGTGCCAATGT	0.592		NA											48	36					0	0	0	0
PSME2	5721	broad.mit.edu	37	14	24614473	24614473	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:24614473C>G	uc001wmj.2	-	5	306	c.241G>C	c.(241-243)GAT>CAT	p.D81H	PSME2_uc001wmk.2_Missense_Mutation_p.D4H|RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	proteasome activator subunit 2	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex					0				GBM - Glioblastoma multiforme(265;0.00839)		TCCTGCTTATCTGTTTCCATC	0.463		NA											6	151					0	0	0	0
AKAP6	9472	broad.mit.edu	37	14	33290655	33290655	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:33290655G>A	uc001wrq.2	+	13	3806	c.3636G>A	c.(3634-3636)ATG>ATA	p.M1212I		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1212					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAAATGGGATGAGTGAGGATG	0.393		NA											107	88					0	0	0	0
AKAP6	9472	broad.mit.edu	37	14	33291388	33291388	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:33291388G>A	uc001wrq.2	+	13	4539	c.4369G>A	c.(4369-4371)GAA>AAA	p.E1457K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1457					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTGGGAGAAGAATTACAAGG	0.363		NA											35	28					0	0	0	0
SSTR1	6751	broad.mit.edu	37	14	38678632	38678632	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:38678632C>G	uc001wul.1	+	3	655	c.38C>G	c.(37-39)TCT>TGT	p.S13C	SSTR1_uc010amu.1_RNA	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	13	Extracellular (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCTTCCTCCTCTCCTAGCCCC	0.746		NA											11	6					0	0	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:47120418C>T	uc001wwg.2	-	1	611	c.522G>A	c.(520-522)ACG>ACA	p.T174T		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						CATTAAACTTCGTGAAGCCCC	0.507		NA											106	77					0	0	0	0
FRMD6	122786	broad.mit.edu	37	14	52182162	52182162	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:52182162C>G	uc001wzd.2	+	10	1254	c.969C>G	c.(967-969)CTC>CTG	p.L323L	FRMD6_uc001wzb.2_Silent_p.L315L|FRMD6_uc001wzc.2_Silent_p.L315L|FRMD6_uc001wze.2_Silent_p.L246L|FRMD6_uc001wzf.2_Silent_p.L16L|FRMD6_uc001wzg.2_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	323	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GCCACCGCCTCTATATGAATC	0.557		NA											52	29					0	0	0	0
DDHD1	80821	broad.mit.edu	37	14	53513591	53513591	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:53513591C>T	uc001xai.2	-	13	2828	c.2598G>A	c.(2596-2598)TCG>TCA	p.S866S	DDHD1_uc001xaj.2_Silent_p.S845S|DDHD1_uc001xah.2_Silent_p.S838S|DDHD1_uc001xag.2_Silent_p.S420S	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	866	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					AGGCAGTATGCGACGTGACAG	0.408		NA											4	116					0	0	0	0
C14orf101	54916	broad.mit.edu	37	14	57052606	57052606	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:57052606C>G	uc001xcm.2	+	3	442	c.320C>G	c.(319-321)TCA>TGA	p.S107*	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Nonsense_Mutation_p.S107*|C14orf101_uc010aot.1_Nonsense_Mutation_p.S107*|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Translation_Start_Site	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	107	Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		GTAGCTGCATCATTACTTTTT	0.378		NA											141	129					0	0	0	0
DHRS7	51635	broad.mit.edu	37	14	60619717	60619717	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:60619717G>A	uc001xes.2	-	4	757	c.573C>T	c.(571-573)ATC>ATT	p.I191I	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Silent_p.I141I|DHRS7_uc001xeu.2_Silent_p.I191I	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	191							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TGATACCCAGGATGCTATTCA	0.433		NA											109	94					0	0	0	0
SYNE2	23224	broad.mit.edu	37	14	64669652	64669652	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:64669652G>C	uc001xgm.2	+	100	18402	c.18172G>C	c.(18172-18174)GAG>CAG	p.E6058Q	SYNE2_uc001xgl.2_Missense_Mutation_p.E6058Q|SYNE2_uc010apy.2_Missense_Mutation_p.E2443Q|SYNE2_uc001xgn.2_Missense_Mutation_p.E1020Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E28Q|SYNE2_uc001xgq.2_Missense_Mutation_p.E423Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6058	Cytoplasmic (Potential).|Spectrin 6.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATGATCAAGAGATCCAGAA	0.512		NA											53	43					0	0	0	0
MPP5	64398	broad.mit.edu	37	14	67784156	67784156	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:67784156G>C	uc001xjc.2	+	11	1795	c.1329G>C	c.(1327-1329)AAG>AAC	p.K443N	MPP5_uc001xjd.2_Missense_Mutation_p.K409N|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	443					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAATAAAAAGAAGAGGAAAA	0.338		NA											42	34					0	0	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68043190	68043190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:68043190G>T	uc001xjl.1	+	17	2573	c.2431G>T	c.(2431-2433)GGA>TGA	p.G811*	PLEKHH1_uc010tsw.1_Nonsense_Mutation_p.G379*|PLEKHH1_uc001xjn.1_Nonsense_Mutation_p.G326*|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	811						cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCAGCTCATTGGAAAACTGAT	0.562		NA											49	39					3.71e-28	3.98e-28	1	0
PCNX	22990	broad.mit.edu	37	14	71428976	71428976	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:71428976C>A	uc001xmo.2	+	3	842	c.396C>A	c.(394-396)TTC>TTA	p.F132L	PCNX_uc001xmn.3_Missense_Mutation_p.F132L|PCNX_uc010are.1_Missense_Mutation_p.F132L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	132						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTCTGAGTTCATCCGAGAGG	0.443		NA											6	469					0.00307968	0.003127	1	0
DNAL1	83544	broad.mit.edu	37	14	74125577	74125577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:74125577G>T	uc001xoq.3	+	3	235	c.70G>T	c.(70-72)GAA>TAA	p.E24*	DNAL1_uc010aru.2_5'UTR|DNAL1_uc010arv.2_Intron	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN	axonemal dynein light chain 1	24											0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAGGCCATCTGAAGCCAAAGA	0.403		NA											269	171					3.1e-119	3.36e-119	1	0
ANGEL1	23357	broad.mit.edu	37	14	77269772	77269772	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:77269772G>A	uc001xsv.2	-	7	1673	c.1560C>T	c.(1558-1560)ATC>ATT	p.I520I	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	520										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGACAAGCGATGCTGCAGA	0.473		NA											83	61					0	0	0	0
SNW1	22938	broad.mit.edu	37	14	78184606	78184606	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:78184606G>C	uc001xuf.2	-	14	1463	c.1436C>G	c.(1435-1437)TCT>TGT	p.S479C	SNW1_uc010tvm.1_Missense_Mutation_p.S404C|SNW1_uc010asu.2_Missense_Mutation_p.S317C|SNW1_uc010tvn.1_Missense_Mutation_p.L506V	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	479					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GTCTGAACCAGAAAACTCCTT	0.428		NA											9	445					0	0	0	0
ADCK1	57143	broad.mit.edu	37	14	78374175	78374175	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:78374175G>A	uc001xui.2	+	7	870	c.771G>A	c.(769-771)ACG>ACA	p.T257T	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Silent_p.T189T|ADCK1_uc001xuk.1_Silent_p.T131T	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	264	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACCTGTCCACGGAGCGGGTCC	0.567		NA											31	26					0	0	0	0
NRXN3	9369	broad.mit.edu	37	14	79181351	79181351	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:79181351C>G	uc001xun.2	+	5	1285	c.794C>G	c.(793-795)TCC>TGC	p.S265C	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S399C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	638	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCAAGTCCTCCTGTTCACGG	0.562		NA											3	118					0	0	0	0
TTC7B	145567	broad.mit.edu	37	14	91123528	91123528	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:91123528G>A	uc001xyp.2	-	11	1453	c.1331C>T	c.(1330-1332)TCC>TTC	p.S444F	TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	444							binding			ovary(2)	2		Melanoma(154;0.222)				CCAGTGCAGGGAGCCCATGCA	0.622		NA											97	65					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94084637	94084637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:94084637G>A	uc001ybv.1	+	27	3942	c.3859G>A	c.(3859-3861)GCC>ACC	p.A1287T	KIAA1409_uc001ybs.1_Missense_Mutation_p.A1265T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1442						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CAAGCCCCATGCCACGGCAGG	0.423		NA											71	46					0	0	0	0
DDX24	57062	broad.mit.edu	37	14	94526564	94526564	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:94526564G>A	uc001ycj.2	-	5	1892	c.1793C>T	c.(1792-1794)TCC>TTC	p.S598F	DDX24_uc010twq.1_Missense_Mutation_p.S555F|DDX24_uc010twr.1_Missense_Mutation_p.S348F	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	598	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTGATGCAGGAGATACTGTT	0.498		NA											67	42					0	0	0	0
GSC	145258	broad.mit.edu	37	14	95235376	95235376	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:95235376G>A	uc001ydu.2	-	2	681	c.534C>T	c.(532-534)CTC>CTT	p.L178L		NM_173849	NP_776248	P56915	GSC_HUMAN	goosecoid	178	Homeobox.				gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		TCTCCTGGAAGAGGTTCTCGA	0.667		NA											7	8					0	0	0	0
C14orf129	51527	broad.mit.edu	37	14	96848583	96848583	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:96848583G>A	uc001yfj.3	+	3	145	c.0_splice	c.e3-1		C14orf129_uc001yfl.2_Splice_Site	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN	chromosome 14 open reading frame 129							cytoplasm	protein binding				0		Melanoma(154;0.226)		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)		TTTTTTTACAGAATGGAAACA	0.333		NA											34	31					0	0	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004323	101004323	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:101004323C>T	uc010txa.1	-	6	1911	c.1765G>A	c.(1765-1767)GGA>AGA	p.G589R	BEGAIN_uc001yhp.2_Missense_Mutation_p.G525R|BEGAIN_uc001yhq.2_Missense_Mutation_p.G589R	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	589						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				AGCAAGGTTCCGTAGAGCTGG	0.706		NA											13	22					0	0	0	0
KLC1	3831	broad.mit.edu	37	14	104129088	104129088	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:104129088C>T	uc001yno.2	+	5	929	c.621C>T	c.(619-621)TAC>TAT	p.Y207Y	KLC1_uc010tyd.1_Silent_p.Y366Y|KLC1_uc010tye.1_Silent_p.Y203Y|KLC1_uc001ynm.1_Silent_p.Y207Y|KLC1_uc001ynn.1_Silent_p.Y203Y|KLC1_uc010tyf.1_Silent_p.Y207Y	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	207					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGGGCGGCTACGAGATCCCCG	0.622		NA											4	123					0	0	0	0
CYFIP1	23191	broad.mit.edu	37	15	22993080	22993080	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:22993080G>A	uc001yus.2	+	26	3071	c.2967G>A	c.(2965-2967)CTG>CTA	p.L989L	CYFIP1_uc001yut.2_Silent_p.L989L|CYFIP1_uc010aya.1_Silent_p.L1017L|CYFIP1_uc001yuu.2_Silent_p.L558L|CYFIP1_uc001yuv.2_Silent_p.L183L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	989					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACGCAGAGCTGAAGACGGTGT	0.612		NA											50	126					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24924415	24924415	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:24924415A>G	uc001ywo.2	+	1	3875	c.3401A>G	c.(3400-3402)TAC>TGC	p.Y1134C		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	1134					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGAAAATTCTACACTTCAAGC	0.483		NA											46	138					0	0	0	0
SNRPN	6638	broad.mit.edu	37	15	25223557	25223557	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:25223557C>T	uc001ywp.1	+	13	1579	c.689C>T	c.(688-690)CCA>CTA	p.P230L	SNRPN_uc001ywq.1_Missense_Mutation_p.P230L|SNRPN_uc001ywr.1_Missense_Mutation_p.P230L|SNRPN_uc001yws.1_Missense_Mutation_p.P230L|SNRPN_uc001ywt.1_Missense_Mutation_p.P230L|SNRPN_uc001ywv.1_Missense_Mutation_p.P233L|SNRPN_uc001yww.1_Missense_Mutation_p.P230L|SNRPN_uc001ywx.1_Missense_Mutation_p.P230L|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	230	Repeat-rich region.|				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTTCCAGGTCCACCTCCCCCA	0.473		NA							Prader-Willi_syndrome				85	285					0	0	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	G	A	rs112615235	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.2_Splice_Site			Q3KRB8	RHGBB_HUMAN	Homo sapiens cDNA, FLJ17072.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TTCCTTGGCAGTGGATAAGTT	0.393		NA											3	48					0	0	0	0
CHRM5	1133	broad.mit.edu	37	15	34356124	34356124	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:34356124C>G	uc001zhk.1	+	3	1876	c.1206C>G	c.(1204-1206)ATC>ATG	p.I402M	CHRM5_uc001zhl.1_Missense_Mutation_p.I402M	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	402	Cytoplasmic (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AGGTGAAAATCATGCCCTGCC	0.502		NA											3	135					0	0	0	0
ZFP106	64397	broad.mit.edu	37	15	42742378	42742378	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:42742378C>T	uc001zpw.2	-	2	2358	c.2023G>A	c.(2023-2025)GAA>AAA	p.E675K	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.E458K|ZFP106_uc001zpy.1_Missense_Mutation_p.E698K	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	675						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TGTGCATCTTCTAGAGAGGTT	0.413		NA											6	273					0	0	0	0
TP53BP1	7158	broad.mit.edu	37	15	43699588	43699588	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:43699588G>A	uc001zrs.2	-	28	6060	c.5912C>T	c.(5911-5913)TCT>TTT	p.S1971F	TP53BP1_uc010udp.1_Missense_Mutation_p.S1969F|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1974F|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1976F|TP53BP1_uc001zrp.2_Missense_Mutation_p.S388F	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1971					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTTTAGTGAGAAACATAATC	0.413		NA						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					39	100					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43815427	43815427	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:43815427G>A	uc001zrt.2	+	4	2223	c.1756G>A	c.(1756-1758)GAA>AAA	p.E586K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	586						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTGGGACAAGAAGAACATGT	0.542		NA											16	33					0	0	0	0
PDIA3	2923	broad.mit.edu	37	15	44058971	44058971	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:44058971C>G	uc001zsu.2	+	8	1039	c.891C>G	c.(889-891)CTC>CTG	p.L297L	PDIA3_uc010bdp.2_Silent_p.L277L|PDIA3_uc010ued.1_Silent_p.L71L	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	297					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGCACAAACTCAACTTTGCTG	0.458		NA											19	47					0	0	0	0
SPG11	80208	broad.mit.edu	37	15	44878014	44878014	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:44878014C>G	uc001ztx.2	-	29	4972	c.4941G>C	c.(4939-4941)CAG>CAC	p.Q1647H	SPG11_uc010bdw.2_5'Flank|SPG11_uc010ueh.1_Missense_Mutation_p.Q1647H|SPG11_uc010uei.1_Missense_Mutation_p.Q1647H|SPG11_uc001zty.1_Missense_Mutation_p.Q376H	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1647	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTTCAAAATCTGGCAAAGGA	0.358		NA											38	157					0	0	0	0
DUOX1	53905	broad.mit.edu	37	15	45426095	45426095	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:45426095G>A	uc001zus.1	+	4	438	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	DUOX1_uc001zut.1_Missense_Mutation_p.R31Q|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	31	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		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;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGGTGCAGCGATTTGATGGG	0.592		NA											38	115					0	0	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081966	53081966	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:53081966G>C	uc002aci.1	-	1	244	c.116C>G	c.(115-117)GCG>GGG	p.A39G		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	39					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		GCCGCGGTGCGCCACGGAGCT	0.756		NA											4	4					0	0	0	0
CCPG1	9236	broad.mit.edu	37	15	55653003	55653003	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:55653003G>A	uc002acv.1	-	8	1133	c.968C>T	c.(967-969)TCA>TTA	p.S323L	CCPG1_uc002acy.2_Missense_Mutation_p.S323L|CCPG1_uc002acu.1_Missense_Mutation_p.S179L|CCPG1_uc002acw.1_Missense_Mutation_p.S48L|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.S323L|CCPG1_uc002acz.1_Missense_Mutation_p.S323L	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	323	Potential.|Lumenal (Potential).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TTCCTGTAATGAGGATAAGGC	0.343		NA											34	125					0	0	0	0
AQP9	366	broad.mit.edu	37	15	58465363	58465363	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:58465363G>C	uc002aez.2	+	3	692	c.335G>C	c.(334-336)GGA>GCA	p.G112A	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G47A	NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	112	Helical; (Potential).				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)		CAGTTCTTGGGAGCCTTTGTG	0.473		NA											74	271					0	0	0	0
CILP	8483	broad.mit.edu	37	15	65489713	65489713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:65489713G>A	uc002aon.2	-	9	3092	c.2911C>T	c.(2911-2913)CGC>TGC	p.R971C		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	971					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CCCATGTTGCGGGATCGCACA	0.562		NA											31	122					0	0	0	0
CILP	8483	broad.mit.edu	37	15	65499133	65499133	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:65499133G>A	uc002aon.2	-	4	592	c.411C>T	c.(409-411)TTC>TTT	p.F137F		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	137					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						GTGGGCAGAGGAAGCGTACGG	0.627		NA											67	160					0	0	0	0
THSD4	79875	broad.mit.edu	37	15	71535271	71535271	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:71535271G>C	uc002atb.1	+	4	827	c.748G>C	c.(748-750)GAT>CAT	p.D250H	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	250	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TTTGACCCATGATCAAGGCTA	0.582		NA											27	127					0	0	0	0
MYO9A	4649	broad.mit.edu	37	15	72170385	72170385	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:72170385G>A	uc002atl.3	-	31	6400	c.5927C>T	c.(5926-5928)ACA>ATA	p.T1976I	MYO9A_uc002atk.2_Missense_Mutation_p.T771I|MYO9A_uc002atm.1_Missense_Mutation_p.T772I	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1976	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						ATTTACCTTTGTGGCTGTGCA	0.308		NA											24	67					0	0	0	0
CELF6	60677	broad.mit.edu	37	15	72582346	72582346	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:72582346C>T	uc002auh.2	-	5	847	c.537G>A	c.(535-537)GTG>GTA	p.V179V	uc002aug.2_Intron|CELF6_uc002auk.3_Intron|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Silent_p.V66V|CELF6_uc010ukl.1_Silent_p.V64V|CELF6_uc010ukm.1_Silent_p.V179V|CELF6_uc002aui.2_Silent_p.V285V|CELF6_uc002auj.2_Silent_p.V66V	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	179	RRM 2.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3						TCCCGAACTTCACAAAGGCAC	0.657		NA											5	17					0	0	0	0
MPI	4351	broad.mit.edu	37	15	75189514	75189514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:75189514C>G	uc002azc.1	+	7	1012	c.1007C>G	c.(1006-1008)TCA>TGA	p.S336*	MPI_uc002azd.1_Intron|MPI_uc010ulx.1_Nonsense_Mutation_p.S286*|MPI_uc002aze.1_Nonsense_Mutation_p.S275*	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	336					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			ovary(2)	2						CCCTACCTCTCAATCTATGAC	0.517		NA											64	116					0	0	0	0
SIN3A	25942	broad.mit.edu	37	15	75668138	75668138	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:75668138C>T	uc002bai.2	-	20	3718	c.3459G>A	c.(3457-3459)AAG>AAA	p.K1153K	SIN3A_uc002baj.2_Silent_p.K1153K|SIN3A_uc010uml.1_Silent_p.K1153K	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1153					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						CCATGGTCTTCTTGCTGTTTC	0.468		NA											65	222					0	0	0	0
MESDC1	59274	broad.mit.edu	37	15	81295691	81295691	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:81295691C>G	uc002bfz.2	+	1	2397	c.1079C>G	c.(1078-1080)TCT>TGT	p.S360C		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	360											0						AATTCCAATTCTGTGAATTAG	0.517		NA											3	19					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85360149	85360149	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:85360149G>T	uc002ble.2	+	1	239	c.72G>T	c.(70-72)CGG>CGT	p.R24R		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	24					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCAGTCACGGCTGGTGCCAG	0.552		NA											6	22					8.13e-05	8.34e-05	1	0
UNC45A	55898	broad.mit.edu	37	15	91488219	91488219	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:91488219C>T	uc002bqg.2	+	9	1465	c.1125C>T	c.(1123-1125)CTC>CTT	p.L375L	UNC45A_uc002bqd.2_Silent_p.L360L	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	375					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTATTCTCCTCAGCAAGCTCT	0.512		NA											26	81					0	0	0	0
TARSL2	123283	broad.mit.edu	37	15	102264441	102264441	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:102264441G>C	uc002bxm.2	-	1	205	c.150C>G	c.(148-150)CTC>CTG	p.L50L	TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	50					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTCCCGCGTGAGGCACGGCC	0.736		NA											6	10					0	0	0	0
WFIKKN1	117166	broad.mit.edu	37	16	682690	682690	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:682690G>A	uc002cht.1	+	2	522	c.280G>A	c.(280-282)GAG>AAG	p.E94K	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	94						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				GGCCTCCTGCGAGGGCTTTGT	0.682		NA											5	14					0	0	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261954	1261954	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:1261954G>C	uc002cks.2	+	25	4823	c.4575G>C	c.(4573-4575)CAG>CAC	p.Q1525H	CACNA1H_uc002ckt.2_Missense_Mutation_p.Q1525H|CACNA1H_uc002cku.2_Missense_Mutation_p.Q231H|CACNA1H_uc010brj.2_Missense_Mutation_p.Q231H|CACNA1H_uc002ckv.2_Missense_Mutation_p.Q231H	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1525	Extracellular (Potential).|III.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCCTGTGCAGAACCACAACC	0.652		NA											41	111					0	0	0	0
TRAF7	84231	broad.mit.edu	37	16	2222339	2222339	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2222339G>A	uc002cow.2	+	8	722	c.623G>A	c.(622-624)CGA>CAA	p.R208Q		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	208					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GTGGACCCCCGAGGGTGCCCC	0.687		NA											9	34					0	0	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239055	2239055	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2239055G>T	uc010bsg.1	-	6	622	c.590C>A	c.(589-591)GCT>GAT	p.A197D		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	197	ANK 5.				signal transduction	cytoplasm				skin(2)	2						GCCGTTTTTAGCTGCGAGGTG	0.657		NA											17	79					1.03e-11	1.08e-11	1	0
ABCA3	21	broad.mit.edu	37	16	2339481	2339481	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2339481C>A	uc002cpy.1	-	20	3366	c.2654G>T	c.(2653-2655)GGA>GTA	p.G885V	ABCA3_uc010bsk.1_Missense_Mutation_p.G827V|ABCA3_uc010bsl.1_Missense_Mutation_p.G885V	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	885					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GATGAGGGCTCCAATGCCGTC	0.682		NA											3	11					0.000602214	0.000614699	1	0
SRRM2	23524	broad.mit.edu	37	16	2814163	2814163	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2814163G>C	uc002crk.2	+	11	4183	c.3634G>C	c.(3634-3636)GAA>CAA	p.E1212Q	SRRM2_uc002crj.1_Missense_Mutation_p.E1116Q|SRRM2_uc002crl.1_Missense_Mutation_p.E1212Q|SRRM2_uc010bsu.1_Missense_Mutation_p.E1116Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1212	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCCGCCAAGGGAAAGAAGTGG	0.453		NA											68	150					0	0	0	0
TFAP4	7023	broad.mit.edu	37	16	4310485	4310485	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4310485C>T	uc010uxg.1	-	5	891	c.637G>A	c.(637-639)GAG>AAG	p.E213K		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	213	Gln-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						tgttcccgctccagcttctcc	0.368		NA											4	14					0	0	0	0
C16orf71	146562	broad.mit.edu	37	16	4797506	4797506	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4797506C>G	uc002cxn.2	+	9	1905	c.1443C>G	c.(1441-1443)CTC>CTG	p.L481L		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	481										central_nervous_system(1)	1						ACATGAAGCTCTGTGCCAAGG	0.677		NA											22	39					0	0	0	0
PPL	5493	broad.mit.edu	37	16	4940880	4940880	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4940880C>T	uc002cyd.1	-	17	2101	c.2011G>A	c.(2011-2013)GAG>AAG	p.E671K		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	671	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TGCTCCACCTCACCCAGGAGG	0.677		NA											4	6					0	0	0	0
PPL	5493	broad.mit.edu	37	16	4944472	4944472	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4944472C>G	uc002cyd.1	-	12	1480	c.1390G>C	c.(1390-1392)GAC>CAC	p.D464H		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	464	Spectrin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TTGTACCTGTCAGCCAGAGCC	0.627		NA											25	57					0	0	0	0
BFAR	51283	broad.mit.edu	37	16	14755859	14755859	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:14755859C>T	uc002dco.2	+	6	1175	c.894C>T	c.(892-894)TTC>TTT	p.F298F	BFAR_uc002dcp.2_Silent_p.F173F|BFAR_uc010uzh.1_Silent_p.F170F	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	298	Lumenal (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						TCCTACCTTTCATCCACACCA	0.542		NA											76	212					0	0	0	0
PDXDC1	23042	broad.mit.edu	37	16	15100328	15100328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:15100328C>T	uc002dda.3	+	6	691	c.467C>T	c.(466-468)TCT>TTT	p.S156F	PDXDC1_uc010uzl.1_Missense_Mutation_p.S141F|PDXDC1_uc010uzm.1_Missense_Mutation_p.S65F|PDXDC1_uc010bvc.1_Missense_Mutation_p.S97F|PDXDC1_uc002dcz.2_Missense_Mutation_p.S156F|PDXDC1_uc002ddb.3_Missense_Mutation_p.S129F|PDXDC1_uc010uzn.1_Missense_Mutation_p.S128F|PDXDC1_uc002ddc.2_Missense_Mutation_p.S156F	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	156					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GCCATTCATTCTCGATATGAA	0.398		NA											46	293					0	0	0	0
COQ7	10229	broad.mit.edu	37	16	19087180	19087180	+	Nonsense_Mutation	SNP	C	C	T	rs150852870		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:19087180C>T	uc002dfr.2	+	4	565	c.505C>T	c.(505-507)CAG>TAG	p.Q169*	COQ7_uc002dfs.2_Nonsense_Mutation_p.Q155*	NM_016138	NP_057222	Q99807	COQ7_HUMAN	COQ7 protein	169	2.|2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			skin(1)	1						GGAACTTCTTCAGGTATTTAT	0.448		NA											19	66					0	0	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570614	20570614	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20570614C>G	uc002dhj.3	-	4	543	c.333G>C	c.(331-333)GTG>GTC	p.V111V	ACSM2B_uc002dhk.3_Silent_p.V111V|ACSM2B_uc010bwf.1_Silent_p.V111V	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	111					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						GGGGCAGCATCACTGCCACAC	0.552		NA											15	36					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20944735	20944735	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20944735G>A	uc010vbe.1	-	62	12092	c.12092C>T	c.(12091-12093)ACG>ATG	p.T4031M	DNAH3_uc010vbd.1_Missense_Mutation_p.T1466M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4031					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AATCTGCATCGTTTTCCTGTC	0.507		NA											52	133					0	0	0	0
DNAH3	55567	broad.mit.edu	37	16	20975168	20975168	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20975168G>C	uc010vbe.1	-	53	10038	c.10038C>G	c.(10036-10038)ATC>ATG	p.I3346M	DNAH3_uc010vbd.1_Missense_Mutation_p.I781M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3346					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TGATGTACTTGATGCGCAGAT	0.483		NA											40	135					0	0	0	0
ERN2	10595	broad.mit.edu	37	16	23706664	23706664	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:23706664C>G	uc002dma.3	-	15	1970	c.1801G>C	c.(1801-1803)GAG>CAG	p.E601Q	ERN2_uc010bxp.2_Missense_Mutation_p.E549Q	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	553	Protein kinase.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCAAAGCACTCGCGGAGGAGC	0.627		NA											5	12					0	0	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24958901	24958901	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:24958901G>T	uc002dnb.2	-	14	1236	c.1143C>A	c.(1141-1143)TTC>TTA	p.F381L	ARHGAP17_uc002dna.2_Missense_Mutation_p.F108L|ARHGAP17_uc002dnc.2_Missense_Mutation_p.F381L|ARHGAP17_uc010vcf.1_Missense_Mutation_p.F202L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	381	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GCTTTGCAAGGAACTTGATCA	0.468		NA											20	98					1.4e-16	1.49e-16	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251184	25251184	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:25251184C>T	uc002dod.3	-	7	3264	c.2857G>A	c.(2857-2859)GAG>AAG	p.E953K	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.E749K	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	953					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TGTGGGTTCTCAGGGCAATAC	0.423		NA											50	159					0	0	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147555	26147555	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:26147555G>C	uc002dof.2	+	2	1749	c.1357G>C	c.(1357-1359)GAG>CAG	p.E453Q		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	453	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		GGAACAGGAAGAGGGTGATAA	0.463		NA											7	30					0	0	0	0
GDPD3	79153	broad.mit.edu	37	16	30123849	30123849	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:30123849G>C	uc002dwp.2	-	4	438	c.359C>G	c.(358-360)TCT>TGT	p.S120C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.S58C|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	120	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						CTCACCTGGAGAGAAGTAAAC	0.612		NA									OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	87					0	0	0	0
SRCAP	10847	broad.mit.edu	37	16	30712176	30712176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:30712176C>T	uc002dze.1	+	3	416	c.31C>T	c.(31-33)CAG>TAG	p.Q11*		NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	11					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TGCTCACCCTCAGCTCCCAGT	0.552		NA											23	90					0	0	0	0
MYLK3	91807	broad.mit.edu	37	16	46763019	46763019	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:46763019G>A	uc002eei.3	-	7	1805	c.1689C>T	c.(1687-1689)ATC>ATT	p.I563I	MYLK3_uc010vge.1_Silent_p.I222I|MYLK3_uc002eej.1_Silent_p.I222I	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	563	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGGTTCATGATGTTGATCT	0.537		NA											35	101					0	0	0	0
ITFG1	81533	broad.mit.edu	37	16	47488014	47488014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:47488014G>A	uc002eet.2	-	3	399	c.337C>T	c.(337-339)CAA>TAA	p.Q113*	ITFG1_uc010vgh.1_5'UTR|ITFG1_uc010cbf.1_5'UTR	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	113						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ACATCCATTTGAGAATCTCCA	0.363		NA											44	179					0	0	0	0
N4BP1	9683	broad.mit.edu	37	16	48596001	48596001	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:48596001C>G	uc002efp.2	-	2	790	c.553G>C	c.(553-555)GAA>CAA	p.E185Q		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	185					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GTCAAAAGTTCTTTTTTCAAG	0.368		NA											19	74					0	0	0	0
N4BP1	9683	broad.mit.edu	37	16	48596101	48596101	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:48596101C>T	uc002efp.2	-	2	690	c.453G>A	c.(451-453)CAG>CAA	p.Q151Q		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	151					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				CTGATTCTTTCTGACTACTGG	0.398		NA											27	117					0	0	0	0
CYLD	1540	broad.mit.edu	37	16	50783939	50783939	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:50783939C>A	uc002egp.1	+	4	745	c.330C>A	c.(328-330)TTC>TTA	p.F110L	CYLD_uc002egn.1_Missense_Mutation_p.F110L|CYLD_uc002ego.2_Missense_Mutation_p.F110L|CYLD_uc010cbs.1_Missense_Mutation_p.F110L|CYLD_uc002egq.1_Missense_Mutation_p.F110L|CYLD_uc002egr.1_Missense_Mutation_p.F110L|CYLD_uc002egs.1_Missense_Mutation_p.F110L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	110	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				AGGAGAGGTTCAGCCTGTTTA	0.398		NA	Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				34	95					5.91e-09	6.17e-09	1	0
CES7	221223	broad.mit.edu	37	16	55899899	55899899	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:55899899C>T	uc002eip.2	-	5	830	c.681G>A	c.(679-681)GCG>GCA	p.A227A	CES7_uc002eio.2_Silent_p.A227A|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.A121A	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	227						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		TTATGGCTCCCGCGGACTCGC	0.478		NA											12	38					0	0	0	0
CETP	1071	broad.mit.edu	37	16	56996944	56996944	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:56996944G>C	uc002eki.2	+	2	198	c.141G>C	c.(139-141)GTG>GTC	p.V47V	CETP_uc002ekj.2_Silent_p.V47V	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	47					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						CTGCCAAGGTGATCCAGACCG	0.617		NA											19	86					0	0	0	0
RANBP10	57610	broad.mit.edu	37	16	67760383	67760383	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:67760383C>T	uc002eud.2	-	14	1927	c.1811G>A	c.(1810-1812)CGA>CAA	p.R604Q	RANBP10_uc010ceo.2_Missense_Mutation_p.R375Q|RANBP10_uc010vju.1_Missense_Mutation_p.R578Q|RANBP10_uc010vjv.1_Missense_Mutation_p.R517Q	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	604										ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CAGGCCTGCTCGGGCCATGAG	0.622		NA											3	22					0	0	0	0
HAS3	3038	broad.mit.edu	37	16	69148601	69148601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:69148601G>A	uc010cfh.2	+	4	1318	c.1094G>A	c.(1093-1095)TGG>TAG	p.W365*	HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Nonsense_Mutation_p.W365*	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	365	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TTCCGGGAGTGGCTCTACAAC	0.547		NA											4	183					0	0	0	0
HYDIN	54768	broad.mit.edu	37	16	71054110	71054110	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71054110C>T	uc002ezr.2	-	22	3425	c.3297G>A	c.(3295-3297)GAG>GAA	p.E1099E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1099										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				ATTTATCAGTCTCACATATAA	0.502		NA											9	25					0	0	0	0
HYDIN	54768	broad.mit.edu	37	16	71054112	71054112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71054112C>T	uc002ezr.2	-	22	3423	c.3295G>A	c.(3295-3297)GAG>AAG	p.E1099K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1099										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTATCAGTCTCACATATAAAG	0.507		NA											10	24					0	0	0	0
CALB2	794	broad.mit.edu	37	16	71418697	71418697	+	Silent	SNP	G	G	A	rs143688092		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71418697G>A	uc002faa.3	+	9	655	c.585G>A	c.(583-585)CTG>CTA	p.L195L	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Intron	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	195	EF-hand 5.						calcium ion binding				0		Ovarian(137;0.125)				GCATGAAGCTGACCTCAGAGG	0.388		NA											52	132					0	0	0	0
GLG1	2734	broad.mit.edu	37	16	74516954	74516954	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:74516954A>G	uc002fcy.3	-	10	1690	c.1640T>C	c.(1639-1641)TTA>TCA	p.L547S	GLG1_uc002fcx.2_Missense_Mutation_p.L547S|GLG1_uc002fcw.3_Missense_Mutation_p.L536S|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	547	Extracellular (Potential).|Cys-rich GLG1 8.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						CTGCAGCTCTAAGAGACGGTG	0.403		NA											35	96					0	0	0	0
VAT1L	57687	broad.mit.edu	37	16	77859251	77859251	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:77859251G>A	uc002ffg.1	+	3	569	c.472G>A	c.(472-474)GCT>ACT	p.A158T		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	158							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						CTTCTCCGAGGCTGCTGCATT	0.537		NA											19	63					0	0	0	0
MBTPS1	8720	broad.mit.edu	37	16	84125404	84125404	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:84125404T>C	uc002fhi.2	-	7	1398	c.896A>G	c.(895-897)AAG>AGG	p.K299R		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	299	Serine protease.|Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						GTCGATCTTCTTTAAAATGGC	0.423		NA											15	83					0	0	0	0
FOXC2	2303	broad.mit.edu	37	16	86601587	86601587	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:86601587G>A	uc002fjq.2	+	1	731	c.646G>A	c.(646-648)GAG>AAG	p.E216K		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	216					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						GATCAAGAGCGAGGCGGCGTC	0.756		NA							Late-onset_Hereditary_Lymphedema				4	2					0	0	0	0
PRPF8	10594	broad.mit.edu	37	17	1586884	1586884	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:1586884C>T	uc002fte.2	-	3	326	c.212G>A	c.(211-213)CGA>CAA	p.R71Q		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	71						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCATGGTCTCGAATGATCTT	0.473		NA											59	160					0	0	0	0
WDR81	124997	broad.mit.edu	37	17	1635682	1635682	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:1635682C>T	uc002fti.2	+	5	801	c.540C>T	c.(538-540)CTC>CTT	p.L180L	WDR81_uc002fth.2_Silent_p.L356L|WDR81_uc010vqp.1_Silent_p.L204L|WDR81_uc002ftj.2_Silent_p.L1407L|WDR81_uc010vqq.1_Silent_p.L38L	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	180										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATCGCCCTCATCTGCCTGC	0.597		NA											52	113					0	0	0	0
SMTNL2	342527	broad.mit.edu	37	17	4498466	4498466	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:4498466C>T	uc002fyf.1	+	5	900	c.833C>T	c.(832-834)TCG>TTG	p.S278L	SMTNL2_uc002fye.2_Missense_Mutation_p.S134L	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	278											0				READ - Rectum adenocarcinoma(115;0.0325)		CCACCCCAGTCGCCCGTGTCC	0.677		NA											15	47					0	0	0	0
ZNF232	7775	broad.mit.edu	37	17	5012997	5012997	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5012997C>G	uc002gas.2	-	3	863	c.109G>C	c.(109-111)GAG>CAG	p.E37Q	ZNF232_uc002gar.1_Missense_Mutation_p.E64Q|ZNF232_uc002gat.2_Missense_Mutation_p.E64Q|ZNF232_uc010vsv.1_Missense_Mutation_p.E64Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	37					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AGCCTGGTCTCATACTCACAA	0.537		NA											29	91					0	0	0	0
ZNF594	84622	broad.mit.edu	37	17	5086386	5086386	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5086386G>C	uc010cla.1	-	2	1322	c.1166C>G	c.(1165-1167)TCA>TGA	p.S389*		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	389	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						GATGAGGTCTGAGGTGCCCTG	0.438		NA											162	408					0	0	0	0
ZNF594	84622	broad.mit.edu	37	17	5087056	5087056	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5087056G>C	uc010cla.1	-	2	652	c.496C>G	c.(496-498)CAA>GAA	p.Q166E		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	166	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TTTGAACTTTGATTAGAGTCT	0.338		NA											29	131					0	0	0	0
ACADVL	37	broad.mit.edu	37	17	7128359	7128359	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7128359C>T	uc002gev.2	+	20	2062	c.1911C>T	c.(1909-1911)ATC>ATT	p.I637I	ACADVL_uc010vtp.1_Silent_p.I647I|ACADVL_uc002gew.2_Silent_p.I615I|ACADVL_uc002gex.2_Silent_p.I561I|uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank	NM_000018	NP_000009	P49748	ACADV_HUMAN	acyl-Coenzyme A dehydrogenase, very long chain	637					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			ovary(3)	3						TCAAAAGCATCTCCAAGGCCT	0.617		NA											38	142					0	0	0	0
C17orf74	201243	broad.mit.edu	37	17	7330205	7330205	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7330205C>A	uc002ggw.2	+	3	968	c.895C>A	c.(895-897)CCT>ACT	p.P299T	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	299						integral to membrane					0		Prostate(122;0.157)				GGGGCACAGCCCTTACCCCTC	0.687		NA											13	62					1.52e-12	1.6e-12	1	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7577556C>A	uc002gim.2	-	7	919	c.725G>T	c.(724-726)TGC>TTC	p.C242F	TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	242	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(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)		GCCGCCCATGCAGGAACTGTT	0.577		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)			38	46					1.3e-32	1.41e-32	1	0
MYH10	4628	broad.mit.edu	37	17	8413181	8413181	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8413181C>G	uc002gll.2	-	23	3042	c.2946G>C	c.(2944-2946)AAG>AAC	p.K982N	MYH10_uc002glm.2_Missense_Mutation_p.K1013N|MYH10_uc010cnx.2_Missense_Mutation_p.K991N	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	982	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CCTCTTCCATCTTCTTGATCT	0.448		NA											53	164					0	0	0	0
MYH10	4628	broad.mit.edu	37	17	8449949	8449949	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8449949C>T	uc002gll.2	-	11	1257	c.1161G>A	c.(1159-1161)ATG>ATA	p.M387I	MYH10_uc002glm.2_Missense_Mutation_p.M397I|MYH10_uc010cnx.2_Missense_Mutation_p.M396I	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	387	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CCATCACATTCATCCCAAGAA	0.428		NA											25	62					0	0	0	0
MYH10	4628	broad.mit.edu	37	17	8457276	8457276	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8457276T>C	uc002gll.2	-	7	883	c.787A>G	c.(787-789)ACA>GCA	p.T263A	MYH10_uc002glm.2_Missense_Mutation_p.T273A|MYH10_uc010cnx.2_Missense_Mutation_p.T272A|MYH10_uc010cny.1_RNA	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	263	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						AGGATACATGTTTCAATGTTG	0.338		NA											105	96					0	0	0	0
MFSD6L	162387	broad.mit.edu	37	17	8700928	8700928	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8700928C>T	uc002glp.1	-	1	1659	c.1511G>A	c.(1510-1512)TGT>TAT	p.C504Y		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	504	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						GCCCAGGCTACAGCCACTCCC	0.632		NA											18	28					0	0	0	0
MYH13	8735	broad.mit.edu	37	17	10209920	10209920	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10209920C>G	uc002gmk.1	-	37	5412	c.5322G>C	c.(5320-5322)AAG>AAC	p.K1774N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1774	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CCTGTTCCTTCTTTAGCTCCT	0.577		NA											53	126					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10358497	10358497	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10358497G>C	uc002gmn.2	-	20	2401	c.2290C>G	c.(2290-2292)CAT>GAT	p.H764D	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	764	Myosin head-like.|Actin-binding (By similarity).				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						ACCTTGGTATGACCGAATTTG	0.383		NA											3	151					0	0	0	0
MYH1	4619	broad.mit.edu	37	17	10415430	10415430	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10415430G>A	uc002gmo.2	-	13	1321	c.1227C>T	c.(1225-1227)GTC>GTT	p.V409V	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	409	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						ACTCATTGCCGACCTTGACCC	0.458		NA											133	321					0	0	0	0
MYH2	4620	broad.mit.edu	37	17	10428570	10428570	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10428570C>G	uc010coi.2	-	33	4761	c.4633G>C	c.(4633-4635)GAA>CAA	p.E1545Q	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1545Q|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1545	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GCCTGAAGTTCACACTTTTCT	0.363		NA											35	152					0	0	0	0
MYH2	4620	broad.mit.edu	37	17	10441071	10441071	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10441071C>G	uc010coi.2	-	15	1626	c.1498G>C	c.(1498-1500)GAG>CAG	p.E500Q	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E500Q|MYH2_uc010coj.2_Missense_Mutation_p.E500Q	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	500	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TCCTCCTGCTCCAGCACGAAC	0.483		NA											82	196					0	0	0	0
DNAH9	1770	broad.mit.edu	37	17	11631206	11631206	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:11631206C>T	uc002gne.2	+	28	5849	c.5781C>T	c.(5779-5781)ATC>ATT	p.I1927I	DNAH9_uc010coo.2_Silent_p.I1221I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1927	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAATCGAATCTCCGTGGAGG	0.478		NA											23	69					0	0	0	0
DNAH9	1770	broad.mit.edu	37	17	11835355	11835355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:11835355G>T	uc002gne.2	+	64	12198	c.12130G>T	c.(12130-12132)GAG>TAG	p.E4044*	DNAH9_uc010coo.2_Nonsense_Mutation_p.E3262*|DNAH9_uc002gnf.2_Nonsense_Mutation_p.E356*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4044	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTCTCGGGAGACGGAGTT	0.498		NA											119	385					1.74e-63	1.89e-63	1	0
MYOCD	93649	broad.mit.edu	37	17	12666707	12666707	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:12666707G>A	uc002gnn.2	+	13	2862	c.2563G>A	c.(2563-2565)GAG>AAG	p.E855K	MYOCD_uc002gno.2_Missense_Mutation_p.E903K|MYOCD_uc002gnq.2_Missense_Mutation_p.E579K	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	855					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAATGCACATGAGATCTTGCC	0.498		NA											23	66					0	0	0	0
MPRIP	23164	broad.mit.edu	37	17	17062051	17062051	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:17062051A>T	uc002gqu.1	+	14	1837	c.1781A>T	c.(1780-1782)AAG>ATG	p.K594M	MPRIP_uc002gqv.1_Missense_Mutation_p.K594M|MPRIP_uc002gqw.1_Missense_Mutation_p.K349M	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	594	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding				0						GAGCGCCGCAAGCGCTTCGGG	0.731		NA											18	41					0	0	0	0
MYO15A	51168	broad.mit.edu	37	17	18077224	18077224	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:18077224C>A	uc010vxh.1	+	64	10818	c.10480C>A	c.(10480-10482)CAG>AAG	p.Q3494K	MYO15A_uc010vxi.1_Missense_Mutation_p.Q758K|MYO15A_uc002gsl.2_Missense_Mutation_p.A526E|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3494	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CTTGCAGCTGCAGCTGGAGCA	0.662		NA											17	35					9.77e-05	0.000100085	1	0
LGALS9C	654346	broad.mit.edu	37	17	18396112	18396112	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:18396112G>T	uc002gtw.2	+	10	933	c.863G>T	c.(862-864)TGG>TTG	p.W288L	LGALS9C_uc010vyb.1_Missense_Mutation_p.W200L	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	galectin 9 like	288	Galectin 2.|Beta-galactoside binding 2 (By similarity).						sugar binding			ovary(1)	1						AACAACTCTTGGGGGTCTGAG	0.572		NA											3	63					0.00010058	0.000103042	1	0
SLC47A1	55244	broad.mit.edu	37	17	19470501	19470501	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:19470501C>T	uc002gvy.1	+	14	1355	c.1269C>T	c.(1267-1269)ATC>ATT	p.I423I	SLC47A1_uc002gvx.2_Silent_p.I423I|SLC47A1_uc010vyz.1_Silent_p.I400I|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Silent_p.I228I|SLC47A1_uc010vza.1_Silent_p.I135I|SLC47A1_uc010vzb.1_Silent_p.I157I|SLC47A1_uc010vzc.1_Silent_p.I95I	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	423	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GCCTCCCCATCGGGATCGCGC	0.557		NA											90	198					0	0	0	0
LGALS9B	284194	broad.mit.edu	37	17	20354855	20354855	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:20354855C>A	uc002gxa.1	-	10	928	c.863G>T	c.(862-864)TGG>TTG	p.W288L	LGALS9B_uc002gwz.1_Missense_Mutation_p.W287L|LGALS9B_uc010vzh.1_Missense_Mutation_p.W200L	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	288	Galectin 2.|Beta-galactoside binding 2 (By similarity).						sugar binding			skin(1)	1						CTCAGACCCCCAAGAGTTGTT	0.572		NA											20	53					4.32e-19	4.6e-19	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319636	21319636	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:21319636G>C	uc002gyv.1	+	3	1687	c.982G>C	c.(982-984)GAG>CAG	p.E328Q		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	328	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	TCACCGCTTTGAGCCCGTGCT	0.592		NA								Prostate(3;0.18)			23	188					0	0	0	0
NOS2	4843	broad.mit.edu	37	17	26114705	26114705	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:26114705C>G	uc002gzu.2	-	5	730	c.466G>C	c.(466-468)GAG>CAG	p.E156Q	NOS2_uc010crh.1_Missense_Mutation_p.E156Q|NOS2_uc010wab.1_Missense_Mutation_p.E156Q	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	156					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AAGCCTTACTCTTTGAAGGAG	0.517		NA											47	118					0	0	0	0
SUPT6H	6830	broad.mit.edu	37	17	27001330	27001330	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:27001330G>T	uc002hby.2	+	3	229	c.139G>T	c.(139-141)GAT>TAT	p.D47Y	SUPT6H_uc010crt.2_Missense_Mutation_p.D47Y	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	47	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GAACCTAGATGATCAGGATGA	0.468		NA											17	53					1.37e-15	1.46e-15	1	0
TAOK1	57551	broad.mit.edu	37	17	27809270	27809270	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:27809270G>C	uc002hdz.1	+	8	813	c.619G>C	c.(619-621)GAT>CAT	p.D207H	TAOK1_uc010wbe.1_Missense_Mutation_p.D207H|TAOK1_uc010wbf.1_Missense_Mutation_p.D207H|TAOK1_uc002heb.1_Missense_Mutation_p.D33H	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	207	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			TGGCAAAGTAGATGTGTGGTC	0.308		NA											7	183					0	0	0	0
CCT6B	10693	broad.mit.edu	37	17	33266221	33266221	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:33266221G>C	uc002hig.2	-	10	1288	c.1194C>G	c.(1192-1194)ATC>ATG	p.I398M	CCT6B_uc010ctg.2_Missense_Mutation_p.I361M|CCT6B_uc010wcc.1_Missense_Mutation_p.I353M	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	398					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				TGGCATTTTTGATAGCACGAA	0.303		NA											7	281					0	0	0	0
AP2B1	163	broad.mit.edu	37	17	33951593	33951593	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:33951593C>T	uc002hjr.2	+	6	892	c.703C>T	c.(703-705)CGG>TGG	p.R235W	AP2B1_uc002hjq.2_Missense_Mutation_p.R235W|AP2B1_uc010wci.1_Missense_Mutation_p.R197W|AP2B1_uc002hjs.2_Missense_Mutation_p.R178W|AP2B1_uc002hjt.2_Missense_Mutation_p.R235W|AP2B1_uc010ctv.2_Missense_Mutation_p.R235W|AP2B1_uc010wcj.1_5'UTR	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	235					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TAAAGATGATCGGGAGGCTCA	0.448		NA											28	99					0	0	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499237	34499237	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:34499237G>A	uc002hky.2	-	7	624	c.474C>T	c.(472-474)TTC>TTT	p.F158F	uc002hla.1_5'Flank|uc002hlc.2_5'Flank	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	158	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATCCCTGAAGAACATATGCT	0.567		NA											43	509					0	0	0	0
GGNBP2	79893	broad.mit.edu	37	17	34942500	34942500	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:34942500C>T	uc002hnb.2	+	12	1762	c.1513C>T	c.(1513-1515)CAC>TAC	p.H505Y	GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.H334Y	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	505					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTGTGTTCATCACTGTGAAGA	0.353		NA											8	218					0	0	0	0
ACACA	31	broad.mit.edu	37	17	35600327	35600327	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:35600327C>T	uc002hnm.2	-	22	2971	c.2780G>A	c.(2779-2781)AGC>AAC	p.S927N	ACACA_uc002hnk.2_Missense_Mutation_p.S849N|ACACA_uc002hnl.2_Missense_Mutation_p.S869N|ACACA_uc002hnn.2_Missense_Mutation_p.S927N|ACACA_uc002hno.2_Missense_Mutation_p.S964N|ACACA_uc010cuz.2_Missense_Mutation_p.S927N	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	927					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGTGATGTTGCTAGCATACTG	0.438		NA											88	188					0	0	0	0
HNF1B	6928	broad.mit.edu	37	17	36104543	36104543	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:36104543G>A	uc002hok.3	-	1	554	c.333C>T	c.(331-333)GAC>GAT	p.D111D	HNF1B_uc010wdi.1_Silent_p.D111D	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	111					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGAGCATCCGGTCCACCTCCG	0.706		NA							Hereditary_Prostate_Cancer				28	81					0	0	0	0
KRT10	3858	broad.mit.edu	37	17	38975820	38975820	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:38975820C>T	uc002hvi.2	-	6	1348	c.1322G>A	c.(1321-1323)CGA>CAA	p.R441Q	KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	441	Rod.|Gly-rich.|Coil 2.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				ATTCTCCAGTCGGATCTTAAT	0.418		NA											61	184					0	0	0	0
KRT33A	3883	broad.mit.edu	37	17	39503388	39503388	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:39503388C>G	uc002hwk.1	-	4	712	c.675G>C	c.(673-675)CTG>CTC	p.L225L		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	225	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				TGGTCTCATTCAGGACCTGGT	0.597		NA											32	75					0	0	0	0
HAP1	9001	broad.mit.edu	37	17	39881320	39881320	+	Missense_Mutation	SNP	C	C	T	rs149550090	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:39881320C>T	uc002hxm.1	-	12	1661	c.1649G>A	c.(1648-1650)CGG>CAG	p.R550Q	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.R498Q|HAP1_uc002hxo.1_Missense_Mutation_p.R481Q|HAP1_uc002hxp.1_Missense_Mutation_p.R473Q	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	550	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATCTTCCCCCCGCATGATATC	0.607		NA											147	409					0	0	0	0
WNK4	65266	broad.mit.edu	37	17	40947774	40947774	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40947774G>A	uc002ibj.2	+	16	3175	c.3154G>A	c.(3154-3156)GAG>AAG	p.E1052K	WNK4_uc010wgx.1_Missense_Mutation_p.E716K|CCDC56_uc010wgz.1_Silent_p.L162L	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1052					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.P1052S(1)		ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTCACTTCAGAGAGCTCAGA	0.587		NA											31	66					0	0	0	0
WNK4	65266	broad.mit.edu	37	17	40948596	40948596	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40948596G>A	uc002ibj.2	+	18	3750	c.3729G>A	c.(3727-3729)ATG>ATA	p.M1243I	WNK4_uc010wgx.1_Missense_Mutation_p.M907I|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1243					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGGCAGGATGGTGAGGGCGG	0.607		NA											19	74					0	0	0	0
CDC27	996	broad.mit.edu	37	17	45214545	45214545	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45214545C>T	uc002ild.3	-	14	2013	c.1886G>A	c.(1885-1887)AGA>AAA	p.R629K	CDC27_uc002ile.3_Missense_Mutation_p.R635K|CDC27_uc002ilf.3_Missense_Mutation_p.R628K|CDC27_uc010wkp.1_Missense_Mutation_p.R568K|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	629	TPR 5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						AGGATTGACTCTGATAGCATT	0.348		NA											11	50					0	0	0	0
CDC27	996	broad.mit.edu	37	17	45216151	45216151	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45216151G>A	uc002ild.3	-	13	1785	c.1658C>T	c.(1657-1659)TCA>TTA	p.S553L	CDC27_uc002ile.3_Missense_Mutation_p.S559L|CDC27_uc002ilf.3_Missense_Mutation_p.S552L|CDC27_uc010wkp.1_Missense_Mutation_p.S492L|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	553					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						TGACAGAACTGAAAGAGCAAC	0.353		NA											30	118					0	0	0	0
KPNB1	3837	broad.mit.edu	37	17	45757436	45757436	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45757436G>C	uc002ilt.1	+	20	2740	c.2404G>C	c.(2404-2406)GAC>CAC	p.D802H	KPNB1_uc010wkw.1_Missense_Mutation_p.D657H|KPNB1_uc010wkx.1_Missense_Mutation_p.D586H	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	802					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GTCTTTCATTGACCACATTGC	0.363		NA											68	183					0	0	0	0
TBKBP1	9755	broad.mit.edu	37	17	45787869	45787869	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45787869G>C	uc002ilu.2	+	9	2574	c.1725G>C	c.(1723-1725)CTG>CTC	p.L575L		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	575					innate immune response						0						GACAGTTGCTGATGGAGACGG	0.632		NA											17	52					0	0	0	0
DLX4	1748	broad.mit.edu	37	17	48050615	48050615	+	Silent	SNP	C	C	T	rs150742579	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48050615C>T	uc002ipv.2	+	2	733	c.462C>T	c.(460-462)CTC>CTT	p.L154L	DLX4_uc002ipw.2_Silent_p.L82L	NM_138281	NP_612138	Q92988	DLX4_HUMAN	distal-less homeobox 4 isoform a	154	Homeobox.				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CAGCGCAGCTCGGCCTCACCC	0.642		NA											16	33					0	0	0	0
COL1A1	1277	broad.mit.edu	37	17	48267430	48267430	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48267430C>T	uc002iqm.2	-	36	2617	c.2491G>A	c.(2491-2493)GAT>AAT	p.D831N		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	831	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GCACCAGCATCACCAGGTTCG	0.662		NA	T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						33	100					0	0	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649387	48649387	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48649387G>A	uc002irk.1	+	5	1107	c.735G>A	c.(733-735)GAG>GAA	p.E245E	CACNA1G_uc002iri.1_Silent_p.E245E|CACNA1G_uc002irj.1_Silent_p.E245E|CACNA1G_uc002irl.1_Silent_p.E245E|CACNA1G_uc002irm.1_Silent_p.E245E|CACNA1G_uc002irn.1_Silent_p.E245E|CACNA1G_uc002iro.1_Silent_p.E245E|CACNA1G_uc002irp.1_Silent_p.E245E|CACNA1G_uc002irq.1_Silent_p.E245E|CACNA1G_uc002irr.1_Silent_p.E245E|CACNA1G_uc002irs.1_Silent_p.E245E|CACNA1G_uc002irt.1_Silent_p.E245E|CACNA1G_uc002irv.1_Silent_p.E245E|CACNA1G_uc002irw.1_Silent_p.E245E|CACNA1G_uc002iru.1_Silent_p.E245E|CACNA1G_uc002irx.1_Silent_p.E158E|CACNA1G_uc002iry.1_Silent_p.E158E|CACNA1G_uc002irz.1_Silent_p.E158E|CACNA1G_uc002isa.1_Silent_p.E158E|CACNA1G_uc002isb.1_Silent_p.E158E|CACNA1G_uc002isc.1_Silent_p.E158E|CACNA1G_uc002isd.1_Silent_p.E158E|CACNA1G_uc002ise.1_Silent_p.E158E|CACNA1G_uc002isf.1_Silent_p.E158E|CACNA1G_uc002isg.1_Silent_p.E158E|CACNA1G_uc002ish.1_Silent_p.E158E|CACNA1G_uc002isi.1_Silent_p.E158E	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	245	Extracellular (Potential).|I.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTACCTGAGAATTTCAGCC	0.597		NA											13	44					0	0	0	0
KIF2B	84643	broad.mit.edu	37	17	51901140	51901140	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:51901140C>T	uc002iua.2	+	1	902	c.746C>T	c.(745-747)TCC>TTC	p.S249F	uc010wna.1_Intron	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	249	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						GTGCATGAGTCCAAGCAAAAG	0.537		NA											22	40					0	0	0	0
HSF5	124535	broad.mit.edu	37	17	56540556	56540556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:56540556G>A	uc002iwi.1	-	4	1253	c.1129C>T	c.(1129-1131)CAG>TAG	p.Q377*		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAACTATCTGAAAGACAGCC	0.443		NA											51	139					0	0	0	0
MTMR4	9110	broad.mit.edu	37	17	56572322	56572322	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:56572322C>G	uc002iwj.2	-	16	3291	c.3181G>C	c.(3181-3183)GAG>CAG	p.E1061Q		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1061						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGGGGGCTCTGCTGGAGGG	0.488		NA											18	69					0	0	0	0
PPM1E	22843	broad.mit.edu	37	17	57058095	57058095	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:57058095C>G	uc002iwx.2	+	7	2098	c.1971C>G	c.(1969-1971)TTC>TTG	p.F657L	PPM1E_uc010ddd.2_Missense_Mutation_p.F420L	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	666					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ATGAACAGTTCAAATCCCCGG	0.423		NA											92	283					0	0	0	0
GDPD1	284161	broad.mit.edu	37	17	57322854	57322854	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:57322854G>C	uc002ixk.1	+	3	402	c.265G>C	c.(265-267)GAG>CAG	p.E89Q	GDPD1_uc002ixj.2_Missense_Mutation_p.E89Q	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain	89	Cytoplasmic (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GTCACATGATGAGAATCTAAA	0.348		NA											4	127					0	0	0	0
MED13	9969	broad.mit.edu	37	17	60088194	60088194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:60088194G>A	uc002izo.2	-	9	1761	c.1684C>T	c.(1684-1686)CAA>TAA	p.Q562*	MED13_uc002izp.2_Nonsense_Mutation_p.Q178*	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	562					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GTTGGCATTTGATAAAAATGT	0.438		NA											46	112					0	0	0	0
GH1	2688	broad.mit.edu	37	17	61994806	61994806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:61994806C>T	uc002jdj.2	-	5	579	c.517G>A	c.(517-519)GAC>AAC	p.D173N	GH1_uc002jdi.2_Missense_Mutation_p.D158N|GH1_uc002jdk.2_Missense_Mutation_p.D133N|GH1_uc002jdl.2_Missense_Mutation_p.D78N|GH1_uc002jdm.2_Missense_Mutation_p.R24Q|GH1_uc002jdn.2_Silent_p.S126S	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	173					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0						GAGTTTGTGTCGAACTTGCTG	0.542		NA											49	128					0	0	0	0
HELZ	9931	broad.mit.edu	37	17	65156472	65156472	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:65156472G>A	uc010wqk.1	-	17	2272	c.2085C>T	c.(2083-2085)CTC>CTT	p.L695L	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.L694L	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGTGCAAATGAGAATCCTGC	0.358		NA											30	87					0	0	0	0
CD300LB	124599	broad.mit.edu	37	17	72522048	72522048	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:72522048C>G	uc002jkx.2	-	2	333	c.320G>C	c.(319-321)GGA>GCA	p.G107A	CD300LB_uc010wqz.1_Missense_Mutation_p.G107A	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	70	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						ACTCTTCTCTCCTTGCTCCGA	0.532		NA											82	238					0	0	0	0
FDXR	2232	broad.mit.edu	37	17	72858968	72858968	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:72858968G>C	uc002jly.2	-	12	1534	c.1447C>G	c.(1447-1449)CAG>GAG	p.Q483E	GRIN2C_uc002jlt.1_5'Flank|GRIN2C_uc010wrh.1_5'Flank|GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.1_Missense_Mutation_p.Q431E|FDXR_uc010wrj.1_Missense_Mutation_p.Q481E|FDXR_uc002jlw.2_Missense_Mutation_p.Q240E|FDXR_uc002jlx.2_Missense_Mutation_p.Q489E|FDXR_uc002jmc.2_Missense_Mutation_p.Q455E|FDXR_uc010wrk.1_Missense_Mutation_p.Q514E|FDXR_uc010wrl.1_Missense_Mutation_p.Q526E|FDXR_uc002jma.2_Missense_Mutation_p.Q484E|FDXR_uc010wrm.1_Missense_Mutation_p.Q443E|FDXR_uc002jlz.2_Missense_Mutation_p.Q475E|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	483					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCATCTCCTGAGGATCCACC	0.687		NA											34	84					0	0	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498777	73498777	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:73498777C>T	uc002joc.2	-	18	2928	c.2378G>A	c.(2377-2379)CGA>CAA	p.R793Q	CASKIN2_uc010wsc.1_Missense_Mutation_p.R711Q	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	793	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGCTTAGGTCGAGGCGGGTC	0.716		NA											5	17					0	0	0	0
TMC6	11322	broad.mit.edu	37	17	76121048	76121048	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:76121048C>T	uc002juj.1	-	6	681	c.555G>A	c.(553-555)CCG>CCA	p.P185P	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Silent_p.P18P|TMC6_uc002juk.2_Silent_p.P185P|TMC6_uc010dhg.1_Silent_p.P185P|TMC6_uc002jul.1_Silent_p.P185P|TMC6_uc002jum.3_Silent_p.P18P|TMC6_uc002jun.3_Silent_p.P185P|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_Silent_p.P18P	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	185	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACTTCCCCCTCGGGGTCCTGC	0.682		NA							Epidermodysplasia_Verruciformis_Familial_Clustering_of				6	6					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78345702	78345702	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:78345702G>A	uc002jyh.1	+	22	6896	c.6673G>A	c.(6673-6675)GAA>AAA	p.E2225K	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.E607K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTATATTCAGGAATATTTGAC	0.348		NA											15	51					0	0	0	0
NARF	26502	broad.mit.edu	37	17	80442792	80442792	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:80442792G>C	uc002kfg.3	+	9	1077	c.937G>C	c.(937-939)GAG>CAG	p.E313Q	NARF_uc002kff.3_Missense_Mutation_p.E254Q|NARF_uc010wvp.1_3'UTR|NARF_uc010dit.2_Missense_Mutation_p.E359Q|NARF_uc002kfj.3_Missense_Mutation_p.E265Q|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.E359Q|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	313						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGTTCAACGAGGATGTGGA	0.572		NA											5	63					0	0	0	0
TBCD	6904	broad.mit.edu	37	17	80885853	80885853	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:80885853C>G	uc002kfz.2	+	30	2812	c.2682C>G	c.(2680-2682)ATC>ATG	p.I894M	TBCD_uc002kfy.1_Missense_Mutation_p.I894M|TBCD_uc002kgb.1_Missense_Mutation_p.I219M|TBCD_uc002kgc.2_Missense_Mutation_p.I39M|TBCD_uc002kgd.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	894					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGAGCTGATCGAGGCCCATA	0.642		NA											19	50					0	0	0	0
ADCYAP1	116	broad.mit.edu	37	18	909481	909481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:909481G>C	uc010dkg.2	+	5	495	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	ADCYAP1_uc010dkh.2_Missense_Mutation_p.E126Q	NM_001099733	NP_001093203	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	126					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0						GGACGACGCGGAGCCGCTCTC	0.667		NA											21	54					0	0	0	0
EPB41L3	23136	broad.mit.edu	37	18	5410589	5410589	+	Silent	SNP	G	G	A	rs140128908		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:5410589G>A	uc002kmt.1	-	14	2183	c.2097C>T	c.(2095-2097)GCC>GCT	p.A699A	EPB41L3_uc010wzh.1_Silent_p.A530A|EPB41L3_uc002kmu.1_Silent_p.A530A|EPB41L3_uc010dkq.1_Silent_p.A421A|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Silent_p.A91A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	699	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TCTCCCCGTCGGCTGCGGTGT	0.532		NA											21	41					0	0	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570206	9570206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:9570206C>A	uc002koe.1	-	11	1640	c.1522G>T	c.(1522-1524)GAA>TAA	p.E508*	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.E354*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.E491*|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	508	HEAT 10.				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						ATCATTTCTTCCAGTTCCTTT	0.428		NA											53	174					1.54e-34	1.67e-34	1	0
POTEC	388468	broad.mit.edu	37	18	14542978	14542978	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:14542978C>T	uc010dln.2	-	1	622	c.168G>A	c.(166-168)ATG>ATA	p.M56I	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	56										skin(3)	3						TGCTCCTGAGCATCTTCATAA	0.587		NA											59	621					0	0	0	0
ROCK1	6093	broad.mit.edu	37	18	18629114	18629114	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:18629114G>A	uc002kte.2	-	4	1294	c.353C>T	c.(352-354)TCT>TTT	p.S118F		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	118	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GAAAAAAGCAGAATCAGATCT	0.368		NA											29	186					0	0	0	0
ESCO1	114799	broad.mit.edu	37	18	19153502	19153502	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:19153502G>C	uc002kth.1	-	4	2237	c.1303C>G	c.(1303-1305)CAA>GAA	p.Q435E	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	435					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						AACGTACTTTGAGTCACTGGA	0.348		NA											39	159					0	0	0	0
RBBP8	5932	broad.mit.edu	37	18	20596847	20596847	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:20596847G>C	uc002ktw.2	+	17	2745	c.2414G>C	c.(2413-2415)AGA>ACA	p.R805T	RBBP8_uc002kty.2_Missense_Mutation_p.R805T|RBBP8_uc002ktz.2_Intron|RBBP8_uc002kua.2_Missense_Mutation_p.R810T|RBBP8_uc010xap.1_Missense_Mutation_p.R143T	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	805					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAAGAGGAGAGAAGAAAACTG	0.338		NA						Direct_reversal_of_damage|Homologous_recombination					19	102					0	0	0	0
HRH4	59340	broad.mit.edu	37	18	22048902	22048902	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:22048902C>T	uc002kvi.2	+	2	444	c.344C>T	c.(343-345)TCA>TTA	p.S115L	HRH4_uc010xbd.1_Intron|HRH4_uc010dlx.2_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	115	Cytoplasmic (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CGATACCTGTCAGTCTCAAAT	0.348		NA											21	116					0	0	0	0
B4GALT6	9331	broad.mit.edu	37	18	29211016	29211016	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:29211016C>T	uc002kwz.3	-	6	979	c.682G>A	c.(682-684)GAT>AAT	p.D228N	B4GALT6_uc010dma.2_Missense_Mutation_p.D189N|B4GALT6_uc010dmb.2_Missense_Mutation_p.D189N	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	228	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TGATCCACATCGTGGAAGATT	0.433		NA											37	81					0	0	0	0
KIAA1632	57724	broad.mit.edu	37	18	43534974	43534974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:43534974C>T	uc002lbm.2	-	2	494	c.394G>A	c.(394-396)GTA>ATA	p.V132I	KIAA1632_uc002lbo.1_Missense_Mutation_p.V132I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	132					autophagy						0						GGGGTTTCTACTTTAGTTCCA	0.493		NA											46	89					0	0	0	0
HDHD2	84064	broad.mit.edu	37	18	44660911	44660911	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:44660911C>T	uc002lcs.2	-	3	399	c.266G>A	c.(265-267)AGA>AAA	p.R89K	HDHD2_uc002lct.2_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain	89							hydrolase activity				0						CAGCATGGGTCTGACTTGTTT	0.363		NA											44	76					0	0	0	0
DYM	54808	broad.mit.edu	37	18	46905007	46905007	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:46905007G>A	uc002ldi.1	-	5	716	c.351C>T	c.(349-351)TTC>TTT	p.F117F	DYM_uc010xdf.1_Intron	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	117						Golgi apparatus					0						TCTGACAGATGAACACTTTCA	0.323		NA											20	40					0	0	0	0
CXXC1	30827	broad.mit.edu	37	18	47810269	47810269	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:47810269C>T	uc002leq.3	-	10	2141	c.1408G>A	c.(1408-1410)GAG>AAG	p.E470K	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.E327K|CXXC1_uc002ler.3_Missense_Mutation_p.E474K|CXXC1_uc010doy.2_Missense_Mutation_p.E470K|CXXC1_uc002les.2_Missense_Mutation_p.E470K	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	470	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTCACCTCCTCATCCTCGCGC	0.582		NA											86	159					0	0	0	0
SMAD4	4089	broad.mit.edu	37	18	48575103	48575103	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:48575103G>C	uc010xdp.1	+	3	835	c.297G>C	c.(295-297)TGG>TGC	p.W99C	SMAD4_uc010xdo.1_RNA	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	99	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(4)|p.W99R(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCCGTCTCTGGAGGTGGCCTG	0.308		NA							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				37	59					0	0	0	0
CPLX4	339302	broad.mit.edu	37	18	56964048	56964048	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:56964048G>C	uc002lhy.2	-	3	552	c.365C>G	c.(364-366)TCT>TGT	p.S122C		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	complexin 4 precursor	122					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			ovary(1)	1		Colorectal(73;0.175)				CCCAAGAATAGAATCTTTATC	0.428		NA											19	57					0	0	0	0
ZNF407	55628	broad.mit.edu	37	18	72343890	72343890	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:72343890A>G	uc002llw.2	+	1	972	c.915A>G	c.(913-915)CCA>CCG	p.P305P	ZNF407_uc010xfc.1_Silent_p.P305P|ZNF407_uc010dqu.1_Silent_p.P305P|ZNF407_uc002llu.2_Silent_p.P304P	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTCAAAACCAAGAACTTCTA	0.343		NA											46	67					0	0	0	0
C19orf22	91300	broad.mit.edu	37	19	900136	900136	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:900136G>C	uc002lqg.2	-	5	554	c.486C>G	c.(484-486)GCC>GCG	p.A162A	C19orf22_uc002lqh.2_Silent_p.A141A|C19orf22_uc002lqi.2_Missense_Mutation_p.L162V|C19orf22_uc002lqj.2_Silent_p.A40A	NM_138774	NP_620129	Q96D70	CS022_HUMAN	hypothetical protein LOC91300	162	Arg-rich.					nucleus	nucleic acid binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTGTATAGGCGGGGTCCT	0.692		NA											25	42					0	0	0	0
HMHA1	23526	broad.mit.edu	37	19	1080711	1080711	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:1080711C>A	uc002lqz.1	+	16	2174	c.1943C>A	c.(1942-1944)TCC>TAC	p.S648Y	HMHA1_uc010xgd.1_Missense_Mutation_p.S664Y|HMHA1_uc010xge.1_Missense_Mutation_p.S516Y|HMHA1_uc002lra.1_Missense_Mutation_p.S488Y|HMHA1_uc002lrb.1_Missense_Mutation_p.S531Y|HMHA1_uc002lrc.1_Missense_Mutation_p.S283Y|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	648					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACGTCATCCAGTGGTACC	0.652		NA											18	64					8.28e-16	8.79e-16	1	0
MIDN	90007	broad.mit.edu	37	19	1254429	1254429	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:1254429C>T	uc002lrp.2	+	5	1163	c.648C>T	c.(646-648)ATC>ATT	p.I216I		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	216						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGCCCATCACAGCCGGCT	0.711		NA											3	4					0	0	0	0
C19orf35	374872	broad.mit.edu	37	19	2275792	2275792	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:2275792C>G	uc002lvn.2	-	4	1409	c.1309G>C	c.(1309-1311)GAG>CAG	p.E437Q	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	437										pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCCCGCTCTGCTAGGCGC	0.741		NA											3	5					0	0	0	0
LMNB2	84823	broad.mit.edu	37	19	2438470	2438470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:2438470G>A	uc002lvy.2	-	3	488	c.401C>T	c.(400-402)TCC>TTC	p.S134F	LMNB2_uc002lwa.1_Missense_Mutation_p.S154F	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	134	Rod.|Coil 1B.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGAACAGGGACTCCAGGTC	0.662		NA											13	26					0	0	0	0
NFIC	4782	broad.mit.edu	37	19	3435121	3435121	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3435121G>C	uc010xhi.1	+	6	936	c.874G>C	c.(874-876)GAC>CAC	p.D292H	NFIC_uc002lxo.2_Missense_Mutation_p.D283H|NFIC_uc010xhh.1_Missense_Mutation_p.D283H|NFIC_uc002lxp.2_Missense_Mutation_p.D292H|NFIC_uc010xhj.1_Missense_Mutation_p.D292H|NFIC_uc002lxq.1_Missense_Mutation_p.D244H	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	292					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGAAGACGTGGACACGAGCCC	0.662		NA											4	4					0	0	0	0
TJP3	27134	broad.mit.edu	37	19	3734394	3734394	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3734394C>T	uc010xhv.1	+	7	1046	c.1046C>T	c.(1045-1047)GCT>GTT	p.A349V	TJP3_uc010xhs.1_Missense_Mutation_p.A316V|TJP3_uc010xht.1_Missense_Mutation_p.A280V|TJP3_uc010xhu.1_Missense_Mutation_p.A325V|TJP3_uc010xhw.1_Missense_Mutation_p.A335V	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	330						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGGCATGCTCAGCGGAGC	0.637		NA											13	61					0	0	0	0
EEF2	1938	broad.mit.edu	37	19	3982347	3982347	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3982347C>T	uc002lze.2	-	5	771	c.688G>A	c.(688-690)GAG>AAG	p.E230K		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	230						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATACATCTCGGCAAACTGC	0.597		NA											34	87					0	0	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456015	5456015	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:5456015G>A	uc002mca.3	+	1	590	c.513G>A	c.(511-513)AAG>AAA	p.K171K		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	171	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TCGACCTCAAGGTGCTGAACG	0.667		NA											19	62					0	0	0	0
SLC25A41	284427	broad.mit.edu	37	19	6427441	6427441	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:6427441G>A	uc010dus.2	-	5	782	c.696C>T	c.(694-696)ATC>ATT	p.I232I	KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Silent_p.I94I	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	232	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						CTCGCTGCAAGATCTGCCTGG	0.622		NA											5	12					0	0	0	0
ZNF358	140467	broad.mit.edu	37	19	7585641	7585641	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:7585641G>A	uc002mgn.2	+	2	1683	c.1513G>A	c.(1513-1515)GAC>AAC	p.D505N	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	505					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CGCTGGTCCCGACCTTGTGCC	0.468		NA											33	97					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9057827	9057827	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9057827G>C	uc002mkp.2	-	3	29823	c.29619C>G	c.(29617-29619)TTC>TTG	p.F9873L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9875	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGTCAATGAGAATGTTGGCT	0.483		NA											3	164					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9062946	9062946	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9062946G>C	uc002mkp.2	-	3	24704	c.24500C>G	c.(24499-24501)TCA>TGA	p.S8167*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8169	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGCAAAGCCTGAGATGGATGT	0.507		NA											37	89					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9065271	9065271	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9065271G>A	uc002mkp.2	-	3	22379	c.22175C>T	c.(22174-22176)CCA>CTA	p.P7392L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7394	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGGGAAGATGGAGGGCTTGT	0.507		NA											27	52					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9068706	9068706	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9068706G>C	uc002mkp.2	-	3	18944	c.18740C>G	c.(18739-18741)TCT>TGT	p.S6247C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6249	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGAAACAAGAGAGGAGGTACT	0.483		NA											34	80					0	0	0	0
ZNF560	147741	broad.mit.edu	37	19	9578057	9578057	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9578057C>T	uc002mlp.1	-	10	1776	c.1566G>A	c.(1564-1566)GGG>GGA	p.G522G	ZNF560_uc010dwr.1_Silent_p.G416G	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	522	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						TAAATGGTTTCCCACATTTGT	0.398		NA											47	156					0	0	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221527	10221527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10221527G>A	uc002mna.2	+	11	1186	c.1186G>A	c.(1186-1188)GAG>AAG	p.E396K	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.E396K|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.E396K|PPAN_uc002mnb.1_Missense_Mutation_p.E343K	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	396					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGCGGTGGGCGAGGCGCCCAG	0.612		NA											57	210					0	0	0	0
KEAP1	9817	broad.mit.edu	37	19	10610625	10610625	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10610625C>G	uc002moq.1	-	2	241	c.85G>C	c.(85-87)GAC>CAC	p.D29H	KEAP1_uc002mor.1_Missense_Mutation_p.D29H	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATCACCGCGTCCCCTGCCCCC	0.642		NA											38	124					0	0	0	0
KRI1	65095	broad.mit.edu	37	19	10675660	10675660	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10675660C>T	uc002moy.1	-	3	246	c.237G>A	c.(235-237)TTG>TTA	p.L79L	KRI1_uc002mox.1_Silent_p.L75L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	79										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTTCTTCTTCAACAAGGAGA	0.458		NA									OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	139					0	0	0	0
AP1M2	10053	broad.mit.edu	37	19	10689577	10689577	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10689577G>A	uc002mpc.2	-	8	963	c.879C>T	c.(877-879)ATC>ATT	p.I293I	AP1M2_uc002mpd.2_Silent_p.I295I	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	293	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCTTGACCATGATCTCCACGC	0.393		NA											6	15					0	0	0	0
RGL3	57139	broad.mit.edu	37	19	11515837	11515837	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:11515837C>G	uc002mrp.2	-	9	1235	c.1171G>C	c.(1171-1173)GAG>CAG	p.E391Q	RGL3_uc002mrn.2_Missense_Mutation_p.E155Q|RGL3_uc002mrm.2_Missense_Mutation_p.E155Q|RGL3_uc002mro.2_Missense_Mutation_p.E391Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	391	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						AAAAGAATCTCTCTGCTGCTG	0.547		NA											9	261					0	0	0	0
ZNF490	57474	broad.mit.edu	37	19	12721450	12721450	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:12721450G>C	uc002mtz.2	-	1	174	c.45C>G	c.(43-45)CTC>CTG	p.L15L	ZNF791_uc002mua.2_5'Flank|ZNF791_uc010xml.1_5'Flank|ZNF791_uc010dyu.1_5'Flank|ZNF791_uc010xmm.1_5'Flank	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTGCTCCTCGAGGGGTCGCT	0.567		NA											39	104					0	0	0	0
ZNF791	163049	broad.mit.edu	37	19	12734532	12734532	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:12734532G>A	uc002mua.2	+	2	184	c.22G>A	c.(22-24)GAT>AAT	p.D8N	ZNF791_uc010xml.1_5'UTR|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_Intron	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGCTTTTGAGGATGTGTCTGT	0.453		NA											7	248					0	0	0	0
RAD23A	5886	broad.mit.edu	37	19	13060211	13060211	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:13060211C>G	uc002mvw.1	+	7	911	c.802C>G	c.(802-804)CAG>GAG	p.Q268E	RAD23A_uc002mvx.1_Missense_Mutation_p.Q267E|RAD23A_uc002mvz.1_Missense_Mutation_p.Q267E|RAD23A_uc002mwa.1_Missense_Mutation_p.Q268E|RAD23A_uc002mvy.1_Missense_Mutation_p.Q102E|RAD23A_uc010xmw.1_Missense_Mutation_p.Q103E	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	268					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1						GGAGAACCCTCAGCTTTTACA	0.612		NA						NER					35	128					0	0	0	0
WIZ	58525	broad.mit.edu	37	19	15547894	15547894	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:15547894G>A	uc002nbb.3	-	3	466	c.252C>T	c.(250-252)TTC>TTT	p.F84F		NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						nucleus	zinc ion binding				0						CAGCCCCGCAGAAGTCACAGC	0.647		NA											6	21					0	0	0	0
C19orf50	79036	broad.mit.edu	37	19	18679247	18679247	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:18679247G>A	uc002njo.2	+	5	479	c.337G>A	c.(337-339)GAA>AAA	p.E113K	C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Missense_Mutation_p.E113K	NM_024069	NP_076974	Q9BQD3	CS050_HUMAN	hypothetical protein LOC79036	113							protein binding				0						GGAAGAGGATGAAGACCCCAT	0.577		NA											106	424					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22941540	22941540	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:22941540G>C	uc010xrh.1	-	5	898	c.898C>G	c.(898-900)CAT>GAT	p.H300D		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTCCAGTATGAATTATCTCA	0.353		NA											4	149					0	0	0	0
C19orf12	83636	broad.mit.edu	37	19	30193787	30193787	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:30193787C>G	uc002nsk.2	-	3	689	c.258G>C	c.(256-258)CAG>CAC	p.Q86H	C19orf12_uc002nsj.2_Missense_Mutation_p.Q97H|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	86						integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TAAAGAGCCTCTGTTGCTCGG	0.632		NA											6	144					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	30936498	30936498	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:30936498G>A	uc002nsu.1	+	2	2167	c.2029G>A	c.(2029-2031)GAC>AAC	p.D677N	ZNF536_uc010edd.1_Missense_Mutation_p.D677N	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	677					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)					CTCGGGCAGTGACCAGGAGTC	0.706		NA											15	34					0	0	0	0
C19orf40	91442	broad.mit.edu	37	19	33467558	33467558	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:33467558G>T	uc002nud.3	+	5	736	c.618G>T	c.(616-618)CAG>CAT	p.Q206H		NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	206	RuvA domain 2-like.				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)					TGGCACAGCAGATCCATGCCT	0.542		NA						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	135					6.12e-33	6.6e-33	1	0
LRP3	4037	broad.mit.edu	37	19	33696521	33696521	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:33696521G>A	uc010edh.2	+	5	938	c.845G>A	c.(844-846)TGC>TAC	p.C282Y	LRP3_uc010xrp.1_Missense_Mutation_p.C156Y|LRP3_uc002nuk.3_Missense_Mutation_p.C156Y	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	282	Extracellular (Potential).|CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					GACCTTCACTGCACGTGGCTG	0.692		NA											9	26					0	0	0	0
ZNF566	84924	broad.mit.edu	37	19	36940594	36940594	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:36940594C>G	uc002oea.3	-	5	624	c.542G>C	c.(541-543)AGA>ACA	p.R181T	ZNF566_uc010xte.1_Missense_Mutation_p.R181T|ZNF566_uc010xtf.1_Missense_Mutation_p.R182T|ZNF566_uc002oeb.3_Missense_Mutation_p.R181T|ZNF566_uc002oec.3_Missense_Mutation_p.R77T|ZNF566_uc010xtg.1_Missense_Mutation_p.R77T	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	181	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TGAGCCATGTCTAAAGGTTTT	0.378		NA											51	137					0	0	0	0
ZNF829	374899	broad.mit.edu	37	19	37383092	37383092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:37383092G>A	uc002ofa.1	-	6	963	c.601C>T	c.(601-603)CGA>TGA	p.R201*	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	201	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGATGTCGAGTAACGAGT	0.373		NA											23	101					0	0	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643675	37643675	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:37643675G>T	uc002ofo.1	-	5	1357	c.1126C>A	c.(1126-1128)CAC>AAC	p.H376N	ZNF585A_uc002ofm.1_Missense_Mutation_p.H321N|ZNF585A_uc002ofn.1_Missense_Mutation_p.H321N	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	376	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTGTGAATTCTCTGA	0.408		NA											64	134					9.08e-34	9.8e-34	1	0
ZNF607	84775	broad.mit.edu	37	19	38189234	38189234	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:38189234G>T	uc002ohc.1	-	5	2394	c.1798C>A	c.(1798-1800)CAT>AAT	p.H600N	ZNF607_uc002ohb.1_Missense_Mutation_p.H599N	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	600	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGTGAAGCATGACTAAAAGTT	0.398		NA											23	78					5.45e-15	5.78e-15	1	0
EID2B	126272	broad.mit.edu	37	19	40023100	40023100	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40023100C>G	uc002olz.1	-	1	395	c.343G>C	c.(343-345)GAG>CAG	p.E115Q		NM_152361	NP_689574	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation	115					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCGTTCCTCGAAATCCCGT	0.557		NA											34	60					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40430302	40430302	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40430302A>G	uc002omp.3	-	3	1649	c.1641T>C	c.(1639-1641)GTT>GTC	p.V547V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	547	VWFD 1.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACGAAGCCAACTTCACCGC	0.647		NA											12	31					0	0	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698342	40698342	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40698342C>T	uc002ona.2	+	1	692	c.404C>T	c.(403-405)CCG>CTG	p.P135L		NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	135	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GAGAAGGACCCGGCAGTGACA	0.662		NA											12	67					0	0	0	0
SPTBN4	57731	broad.mit.edu	37	19	41074133	41074133	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:41074133G>C	uc002ony.2	+	31	6987	c.6901G>C	c.(6901-6903)GAG>CAG	p.E2301Q	SPTBN4_uc002onz.2_Missense_Mutation_p.E2301Q|SPTBN4_uc010egx.2_Missense_Mutation_p.E1044Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2301					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGGCGCTTGGAGCGGCAGGA	0.667		NA											2	9					0	0	0	0
CCDC97	90324	broad.mit.edu	37	19	41825513	41825513	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:41825513C>G	uc002oqg.2	+	3	659	c.537C>G	c.(535-537)TTC>TTG	p.F179L	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	179											0						AGATGCGGTTCCGGGCCCCCC	0.627		NA											34	158					0	0	0	0
POU2F2	5452	broad.mit.edu	37	19	42600360	42600360	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:42600360G>C	uc002osp.2	-	8	604	c.537C>G	c.(535-537)CTC>CTG	p.L179L	POU2F2_uc002osn.2_Intron|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Silent_p.L179L	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	179					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				GCGGGTGCGAGAGGTGCGGGT	0.687		NA											6	29					0	0	0	0
PSG8	440533	broad.mit.edu	37	19	43268174	43268174	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:43268174C>T	uc002ouo.2	-	2	422	c.324G>A	c.(322-324)CTG>CTA	p.L108L	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Silent_p.L108L|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Silent_p.L108L|PSG8_uc002oum.3_Silent_p.L108L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.L108L	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	108	Ig-like V-type.					extracellular region					0		Prostate(69;0.00899)				CATTCTGGATCAGCAGGGATG	0.418		NA											179	481					0	0	0	0
PSG5	5673	broad.mit.edu	37	19	43689186	43689186	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:43689186G>C	uc002ovu.2	-	2	309	c.178C>G	c.(178-180)CAG>GAG	p.Q60E	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_5'UTR|PSG5_uc002ovx.2_Missense_Mutation_p.Q60E|PSG5_uc002ovv.2_Missense_Mutation_p.Q60E|PSG5_uc002ovw.2_Missense_Mutation_p.Q60E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	60	Ig-like V-type.				female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)				GCAAGATTCTGAGGCAAATTG	0.448		NA											105	356					0	0	0	0
ZNF296	162979	broad.mit.edu	37	19	45579002	45579002	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:45579002G>C	uc002pao.2	-	2	474	c.417C>G	c.(415-417)CTC>CTG	p.L139L		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	139					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCCTCTGAAGAGCTGACAGC	0.632		NA											36	106					0	0	0	0
MEIS3	56917	broad.mit.edu	37	19	47912796	47912796	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:47912796C>A	uc002pgu.2	-	7	1053	c.606G>T	c.(604-606)ATG>ATT	p.M202I	MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Missense_Mutation_p.M1I|MEIS3_uc002pgp.2_Missense_Mutation_p.M34I|MEIS3_uc002pgq.2_Missense_Mutation_p.M283I|MEIS3_uc002pgr.2_Missense_Mutation_p.M70I|MEIS3_uc002pgt.2_Missense_Mutation_p.M185I|MEIS3_uc002pgv.2_Missense_Mutation_p.M185I|MEIS3_uc002pgs.2_Missense_Mutation_p.M202I|MEIS3_uc010eld.2_Missense_Mutation_p.M202I	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	202				M -> I (in Ref. 5).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCGAATCCACATATTATTCT	0.373		NA											44	124					2.27e-22	2.43e-22	1	0
SNRNP70	6625	broad.mit.edu	37	19	49611111	49611111	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:49611111G>A	uc002pmk.2	+	10	1164	c.725G>A	c.(724-726)AGA>AAA	p.R242K	SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.R233K|SNRNP70_uc002pml.2_Missense_Mutation_p.E29K|SNRNP70_uc002pmm.2_RNA	NM_003089	NP_003080	P08621	RU17_HUMAN	U1 small nuclear ribonucleoprotein 70 kDa	242	Arg/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						CGGGAGCGCAGAGAGCGGAGC	0.746		NA											4	9					0	0	0	0
PNKP	11284	broad.mit.edu	37	19	50364730	50364730	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:50364730G>A	uc002pqh.2	-	15	1476	c.1424C>T	c.(1423-1425)TCA>TTA	p.S475L	PNKP_uc002pqg.2_Missense_Mutation_p.S256L|PNKP_uc002pqi.2_Missense_Mutation_p.S436L|PNKP_uc002pqj.2_Missense_Mutation_p.S475L|PNKP_uc010enm.2_Missense_Mutation_p.S444L|PNKP_uc002pqk.2_Silent_p.V438V	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	475					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GACCATGTCTGACACGGGGAT	0.622		NA						Other_BER_factors					27	83					0	0	0	0
ZNF473	25888	broad.mit.edu	37	19	50549104	50549104	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:50549104C>T	uc002prn.2	+	5	1641	c.1404C>T	c.(1402-1404)TTC>TTT	p.F468F	ZNF473_uc002prm.2_Silent_p.F468F|ZNF473_uc010ybo.1_Silent_p.F456F	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	468	Interaction with SLBP/pre-mRNA complex.|C2H2-type 8.				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)		TCAGGAGTTTCAGCCGGCCCT	0.522		NA											11	38					0	0	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022334	51022334	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:51022334G>A	uc002pss.2	-	3	773	c.636C>T	c.(634-636)CTC>CTT	p.L212L		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	212	Extracellular (Potential).|LRR 6.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCCCAGGTTGAGGTAGCGCA	0.677		NA											14	23					0	0	0	0
ZNF836	162962	broad.mit.edu	37	19	52659726	52659726	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52659726G>A	uc010ydi.1	-	5	1584	c.1210C>T	c.(1210-1212)CAT>TAT	p.H404Y	ZNF836_uc010ydj.1_Missense_Mutation_p.H404Y	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	404	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACTGTCTGATGAGTTGCCAGG	0.403		NA											5	105					0	0	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52724383	52724383	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52724383C>A	uc002pyp.2	+	12	1674	c.1515C>A	c.(1513-1515)ATC>ATA	p.I505I	PPP2R1A_uc010ydk.1_Silent_p.I450I|PPP2R1A_uc002pyq.2_Silent_p.I326I	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	505	PP2A subunit C binding.|HEAT 13.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCTTCTGCATCAATGTGAGCC	0.597		NA	Mis		clear cell ovarian carcinoma								38	129					4.33e-17	4.61e-17	1	0
ZNF534	147658	broad.mit.edu	37	19	52941053	52941053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52941053C>T	uc002pzk.2	+	4	440	c.379C>T	c.(379-381)CAG>TAG	p.Q127*	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Nonsense_Mutation_p.Q114*	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTAACTCTTCAGTTACATCT	0.348		NA											19	43					0	0	0	0
ZNF83	55769	broad.mit.edu	37	19	53117232	53117232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:53117232G>A	uc002pzu.3	-	2	1830	c.586C>T	c.(586-588)CAA>TAA	p.Q196*	ZNF83_uc002pzv.3_Nonsense_Mutation_p.Q196*|ZNF83_uc010eps.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010ept.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epu.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epv.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epw.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epx.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epy.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epz.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010eqb.1_Nonsense_Mutation_p.Q196*	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	196	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATTCTTTGATGTTGTGCA	0.383		NA											42	141					0	0	0	0
ZNF415	55786	broad.mit.edu	37	19	53612605	53612605	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:53612605C>T	uc002qax.2	-	7	1186	c.837G>A	c.(835-837)ATG>ATA	p.M279I	ZNF415_uc002qat.2_Missense_Mutation_p.M243I|ZNF415_uc002qaw.2_Missense_Mutation_p.M231I|ZNF415_uc010yds.1_Missense_Mutation_p.M231I|ZNF415_uc010ydt.1_Missense_Mutation_p.M231I|ZNF415_uc002qau.2_Missense_Mutation_p.M218I|ZNF415_uc002qav.2_Missense_Mutation_p.M243I|ZNF415_uc002qba.2_Missense_Mutation_p.M1I|ZNF415_uc002qay.2_Missense_Mutation_p.M218I|ZNF415_uc002qaz.2_Missense_Mutation_p.M279I	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	279	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		GACGTACAGTCATGTGTGAGC	0.403		NA											54	134					0	0	0	0
ZNF331	55422	broad.mit.edu	37	19	54080889	54080889	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:54080889G>C	uc002qbx.1	+	7	2509	c.1075G>C	c.(1075-1077)GAA>CAA	p.E359Q	ZNF331_uc002qby.1_Missense_Mutation_p.E359Q|ZNF331_uc002qbz.1_Missense_Mutation_p.E359Q|ZNF331_uc002qca.1_Missense_Mutation_p.E359Q|ZNF331_uc010eqr.1_Missense_Mutation_p.E359Q|ZNF331_uc002qcb.1_Missense_Mutation_p.E359Q|ZNF331_uc002qcc.1_Missense_Mutation_p.E359Q|ZNF331_uc002qcd.1_Missense_Mutation_p.E359Q	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	359	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		CAAGTGCACAGAATGTGGGAA	0.527		NA	T	?	follicular thyroid adenoma								22	64					0	0	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340901	55340901	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55340901C>G	uc002qhk.3	+	7	1149	c.1086C>G	c.(1084-1086)CTC>CTG	p.L362L	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.L287L|KIR3DL1_uc010esf.2_Silent_p.L267L|KIR3DL1_uc010yfo.1_Silent_p.L304L|KIR3DL1_uc002qhl.3_Intron	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	362	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		tccttcatctcTGGTGCTCCA	0.433		NA											52	80					0	0	0	0
NLRP7	199713	broad.mit.edu	37	19	55450851	55450851	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55450851G>A	uc002qih.3	-	4	1412	c.1336C>T	c.(1336-1338)CGT>TGT	p.R446C	NLRP7_uc002qig.3_Missense_Mutation_p.R446C|NLRP7_uc002qii.3_Missense_Mutation_p.R446C|NLRP7_uc010esk.2_Missense_Mutation_p.R446C|NLRP7_uc010esl.2_Missense_Mutation_p.R474C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	446	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGGAACAGACGGAGGTCGGAC	0.632		NA											21	70					0	0	0	0
SAPS1	22870	broad.mit.edu	37	19	55756738	55756738	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55756738G>A	uc002qjw.3	-	4	689	c.447C>T	c.(445-447)TTC>TTT	p.F149F	SAPS1_uc002qjv.2_Silent_p.F211F	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	149	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCAGGTCCACGAAGTCATCCT	0.647		NA											8	16					0	0	0	0
SUV420H2	84787	broad.mit.edu	37	19	55853367	55853367	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55853367C>T	uc002qkj.3	+	2	311	c.63C>T	c.(61-63)CTC>CTT	p.L21L	SUV420H2_uc010esx.1_Silent_p.L21L|SUV420H2_uc002qkk.1_Silent_p.L21L|SUV420H2_uc002qkl.2_5'UTR	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCACCAGCCTCGTCCTGGACC	0.662		NA											43	108					0	0	0	0
CCDC106	29903	broad.mit.edu	37	19	56162717	56162717	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56162717G>A	uc002qlr.2	+	5	1117	c.382G>A	c.(382-384)GAG>AAG	p.E128K	CCDC106_uc002qls.2_Missense_Mutation_p.E128K|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	128						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGCTGGGGGCGAGGCCTCGGA	0.667		NA											18	30					0	0	0	0
NLRP11	204801	broad.mit.edu	37	19	56303801	56303801	+	Missense_Mutation	SNP	G	G	C	rs114762114	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56303801G>C	uc010ygf.1	-	9	3090	c.2379C>G	c.(2377-2379)AGC>AGG	p.S793R	NLRP11_uc002qlz.2_Missense_Mutation_p.S640R|NLRP11_uc002qmb.2_Missense_Mutation_p.S694R|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	793							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTCCAAGGGCGCTGCAGCAAT	0.493		NA											35	101					0	0	0	0
NLRP13	126204	broad.mit.edu	37	19	56423803	56423803	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56423803G>A	uc010ygg.1	-	5	1405	c.1380C>T	c.(1378-1380)TTC>TTT	p.F460F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	460	NACHT.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACAAGTTGGAGAAAAAATAGG	0.507		NA											42	106					0	0	0	0
NLRP5	126206	broad.mit.edu	37	19	56515156	56515156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56515156C>T	uc002qmj.2	+	2	137	c.137C>T	c.(136-138)TCT>TTT	p.S46F	NLRP5_uc002qmi.2_Missense_Mutation_p.S46F	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	46						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AACCTGAGCTCTCAGCCTTGT	0.438		NA											48	132					0	0	0	0
ZNF471	57573	broad.mit.edu	37	19	57027752	57027752	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57027752C>G	uc002qnh.2	+	3	275	c.142C>G	c.(142-144)CAG>GAG	p.Q48E		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGAGAACTATCAGAGCCTGGT	0.373		NA											44	147					0	0	0	0
ZNF471	57573	broad.mit.edu	37	19	57037129	57037129	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57037129C>T	uc002qnh.2	+	5	1826	c.1693C>T	c.(1693-1695)CAT>TAT	p.H565Y		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	565	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAAAGAATTCATACTGGAGA	0.423		NA											30	86					0	0	0	0
ZNF547	284306	broad.mit.edu	37	19	57883219	57883219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57883219C>T	uc002qol.2	+	3	287	c.94C>T	c.(94-96)CAG>TAG	p.Q32*	ZNF547_uc010ygx.1_Nonsense_Mutation_p.Q32*	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGATGAGGCTCAGAGATTGCT	0.512		NA											10	494					0	0	0	0
ZNF134	7693	broad.mit.edu	37	19	58132674	58132674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58132674G>A	uc002qpn.2	+	3	1286	c.1187G>A	c.(1186-1188)GGA>GAA	p.G396E	ZNF134_uc002qpo.2_Missense_Mutation_p.G223E|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	396						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTTCACACTGGAGAAAGGCCA	0.498		NA											50	168					0	0	0	0
ZNF551	90233	broad.mit.edu	37	19	58199369	58199369	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58199369C>G	uc002qpw.3	+	3	1901	c.1678C>G	c.(1678-1680)CAA>GAA	p.Q560E	ZNF551_uc002qpv.3_Missense_Mutation_p.Q503E|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	576	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGCCTCATTCAACACCAGAG	0.468		NA											42	116					0	0	0	0
ZNF329	79673	broad.mit.edu	37	19	58639517	58639517	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58639517C>T	uc002qrn.2	-	4	1591	c.1354G>A	c.(1354-1356)GAG>AAG	p.E452K	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TAGGGCTTCTCACCAGTATGA	0.502		NA											34	87					0	0	0	0
PXDN	7837	broad.mit.edu	37	2	1647338	1647338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:1647338C>G	uc002qxa.2	-	19	3818	c.3754G>C	c.(3754-3756)GAG>CAG	p.E1252Q		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1252					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCAGGGTTCTCATACCACAAC	0.557		NA											29	74					0	0	0	0
GRHL1	29841	broad.mit.edu	37	2	10098934	10098934	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:10098934C>T	uc002raa.2	+	3	398	c.227C>T	c.(226-228)TCA>TTA	p.S76L	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_5'UTR|GRHL1_uc010yjb.1_5'UTR|uc002rac.2_5'Flank	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	76	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GAGAGAAGGTCATCAACAGCA	0.443		NA											15	46					0	0	0	0
DDX1	1653	broad.mit.edu	37	2	15768620	15768620	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:15768620G>T	uc002rce.2	+	21	2026	c.1738G>T	c.(1738-1740)GAT>TAT	p.D580Y	DDX1_uc010yjq.1_Missense_Mutation_p.D488Y	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	580	Helicase C-terminal.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.|Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TAGAGGAATTGATATCCACGG	0.343		NA											35	126					4.05e-12	4.27e-12	1	0
GEN1	348654	broad.mit.edu	37	2	17947933	17947933	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:17947933C>T	uc002rct.2	+	5	686	c.613C>T	c.(613-615)CTT>TTT	p.L205F	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.L205F|GEN1_uc002rcu.2_Missense_Mutation_p.L205F	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	205	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCAATACTTCTTGGCTGTGA	0.338		NA						Homologous_recombination					23	95					0	0	0	0
HS1BP3	64342	broad.mit.edu	37	2	20818831	20818831	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:20818831C>T	uc002rdw.1	-	7	1136	c.1095G>A	c.(1093-1095)CAG>CAA	p.Q365Q		NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	365					cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCTTGGATCTGCTCCTGCG	0.617		NA											22	85					0	0	0	0
ITSN2	50618	broad.mit.edu	37	2	24440837	24440837	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:24440837C>G	uc002rfe.2	-	31	4003	c.3745G>C	c.(3745-3747)GAG>CAG	p.E1249Q	ITSN2_uc002rff.2_Missense_Mutation_p.E1222Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	1249	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCCATCTCCCCTTCAGTG	0.463		NA											35	84					0	0	0	0
NCOA1	8648	broad.mit.edu	37	2	24985573	24985573	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:24985573G>A	uc002rfk.2	+	20	4341	c.4083G>A	c.(4081-4083)CTG>CTA	p.L1361L	NCOA1_uc010eye.2_Silent_p.L1361L|NCOA1_uc002rfi.2_Silent_p.L1210L|NCOA1_uc002rfj.2_Silent_p.L1361L|NCOA1_uc002rfl.2_Silent_p.L1361L|NCOA1_uc010eyf.2_Intron	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1361									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCGCACTGAGACACACAG	0.398		NA	T	PAX3	alveolar rhadomyosarcoma								19	358					0	0	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305913	27305913	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27305913C>G	uc002rii.3	+	4	1902	c.1474C>G	c.(1474-1476)CAA>GAA	p.Q492E	EMILIN1_uc010eyq.1_Missense_Mutation_p.Q473E|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	492					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGACTCTCAAGTCAGCGA	0.692		NA											5	16					0	0	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481696	27481696	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27481696C>G	uc002rjk.2	-	2	388	c.202G>C	c.(202-204)GAG>CAG	p.E68Q	SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.E63Q	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	68	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGCCTCTCAGGGGTAAGG	0.622		NA											16	45					0	0	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27665754	27665754	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27665754C>T	uc002rks.2	+	3	276	c.259C>T	c.(259-261)CTT>TTT	p.L87F	KRTCAP3_uc010ylr.1_Missense_Mutation_p.L87F|KRTCAP3_uc002rkt.2_Missense_Mutation_p.L69F	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	87						integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)					CAGGAACCTTCTTCGCCCTCC	0.592		NA											32	47					0	0	0	0
PLB1	151056	broad.mit.edu	37	2	28741373	28741373	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:28741373T>C	uc002rmb.1	+	3	158	c.158T>C	c.(157-159)TTA>TCA	p.L53S	PLB1_uc010ezj.1_Missense_Mutation_p.L53S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	53	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCAAATAAATTAGGAGTGAAT	0.443		NA											61	127					0	0	0	0
RASGRP3	25780	broad.mit.edu	37	2	33752314	33752314	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:33752314G>A	uc002rox.2	+	11	1545	c.918G>A	c.(916-918)TTG>TTA	p.L306L	RASGRP3_uc010ync.1_Silent_p.L306L|RASGRP3_uc002roy.2_Silent_p.L306L	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	306	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					GAGTACACTTGAAAGACTTGA	0.473		NA											10	58					0	0	0	0
FAM98A	25940	broad.mit.edu	37	2	33824236	33824236	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:33824236C>G	uc002rpa.1	-	1	127	c.53G>C	c.(52-54)GGT>GCT	p.G18A	FAM98A_uc010yne.1_5'UTR	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	18										ovary(1)	1	all_hematologic(175;0.115)					ACAATCTTACCCTAGATCTTC	0.597		NA											5	258					0	0	0	0
DHX57	90957	broad.mit.edu	37	2	39053158	39053158	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:39053158C>G	uc002rrf.2	-	16	2944	c.2845G>C	c.(2845-2847)GAG>CAG	p.E949Q	DHX57_uc002rrd.3_Missense_Mutation_p.E333Q|DHX57_uc002rre.2_Missense_Mutation_p.E382Q	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	949	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				AAGGTGTCCTCTAGACTTTCC	0.408		NA											21	77					0	0	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452225	43452225	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:43452225C>G	uc002rsv.3	-	2	1009	c.718G>C	c.(718-720)GAT>CAT	p.D240H	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	240					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCAACGCATCGCGCGTGCCA	0.612		NA											6	16					0	0	0	0
ABCG8	64241	broad.mit.edu	37	2	44079754	44079754	+	Missense_Mutation	SNP	C	C	A	rs55702734		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44079754C>A	uc002rtq.2	+	6	801	c.711C>A	c.(709-711)GAC>GAA	p.D237E	ABCG8_uc010yoa.1_Missense_Mutation_p.D237E	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	237	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTATTCTCGACGAACCCACCT	0.612		NA											63	133					1.84e-34	1.99e-34	1	0
LRPPRC	10128	broad.mit.edu	37	2	44161341	44161341	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44161341C>T	uc002rtr.2	-	25	2782	c.2724G>A	c.(2722-2724)AAG>AAA	p.K908K	LRPPRC_uc010yob.1_Silent_p.K808K	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	908					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)				CAATGATCTTCTTGGCCTCTT	0.338		NA											12	62					0	0	0	0
PREPL	9581	broad.mit.edu	37	2	44549940	44549940	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44549940C>G	uc002ruf.2	-	12	1985	c.1950G>C	c.(1948-1950)CTG>CTC	p.L650L	PREPL_uc002rug.2_Silent_p.L584L|PREPL_uc002ruh.2_Silent_p.L588L|PREPL_uc010fax.2_Silent_p.L650L|PREPL_uc002rui.3_Silent_p.L561L|PREPL_uc002ruj.1_Silent_p.L561L|PREPL_uc002ruk.1_Silent_p.L650L	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	650					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAATTCCTTTCAGAGGTACCC	0.423		NA											80	189					0	0	0	0
SRBD1	55133	broad.mit.edu	37	2	45807146	45807146	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:45807146G>C	uc002rus.2	-	7	1016	c.940C>G	c.(940-942)CCA>GCA	p.P314A		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	314					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTTTTATATGGAGCAGACTAG	0.398		NA											4	196					0	0	0	0
KLRAQ1	129285	broad.mit.edu	37	2	48698496	48698496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:48698496C>T	uc002rwm.2	+	11	1263	c.1078C>T	c.(1078-1080)CAG>TAG	p.Q360*	KLRAQ1_uc002rwi.1_Nonsense_Mutation_p.Q360*|KLRAQ1_uc002rwj.2_Nonsense_Mutation_p.Q360*|KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.Q314*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.Q360*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.Q360*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	360										ovary(1)	1						TCTTCCCTATCAGTTAAAAAG	0.388		NA											32	113					0	0	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809196	48809196	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:48809196C>G	uc010yol.1	+	1	1471	c.1424C>G	c.(1423-1425)TCA>TGA	p.S475*	STON1_uc002rwo.3_Nonsense_Mutation_p.S475*|STON1_uc010fbm.2_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_uc002rwp.1_Nonsense_Mutation_p.S475*|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Nonsense_Mutation_p.S475*	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	475					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAAGGACTCAGAAAAAAAG	0.368		NA											41	142					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	51254859	51254859	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:51254859G>C	uc010fbq.2	-	2	2030	c.553C>G	c.(553-555)CGT>GGT	p.R185G	NRXN1_uc002rxe.3_Missense_Mutation_p.R185G|NRXN1_uc002rxd.1_Missense_Mutation_p.R185G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACGTCACGAATCCACCCC	0.706		NA											3	10					0	0	0	0
CCT7	10574	broad.mit.edu	37	2	73470151	73470151	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:73470151C>G	uc002siz.2	+	4	389	c.287C>G	c.(286-288)TCA>TGA	p.S96*	CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_Nonsense_Mutation_p.S52*|CCT7_uc010feu.2_Intron|CCT7_uc010yrg.1_Intron|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Nonsense_Mutation_p.S9*	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	96					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						GGCACCACCTCAGTGACCTTG	0.502		NA											24	74					0	0	0	0
ALMS1	7840	broad.mit.edu	37	2	73651682	73651682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:73651682C>T	uc002sje.1	+	6	1003	c.892C>T	c.(892-894)CAG>TAG	p.Q298*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q255*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	297					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TAGTGTATCTCAGCACCCGCT	0.448		NA											17	46					0	0	0	0
GPAT2	150763	broad.mit.edu	37	2	96690536	96690536	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:96690536G>T	uc002svf.2	-	14	1636	c.1413C>A	c.(1411-1413)CTC>CTA	p.L471L	GPAT2_uc002svd.2_Silent_p.L284L|GPAT2_uc002sve.2_Silent_p.L273L|GPAT2_uc002svg.2_Silent_p.L344L|GPAT2_uc010yuh.1_Silent_p.L400L|GPAT2_uc002svh.2_Silent_p.L471L	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	471	Helical; (Potential).				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						GATGCTTGAAGAGCAGCAGCG	0.657		NA											81	246					5.01e-46	5.44e-46	1	0
GPAT2	150763	broad.mit.edu	37	2	96690561	96690561	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:96690561G>T	uc002svf.2	-	14	1611	c.1388C>A	c.(1387-1389)ACG>AAG	p.T463K	GPAT2_uc002svd.2_Missense_Mutation_p.T276K|GPAT2_uc002sve.2_Missense_Mutation_p.T265K|GPAT2_uc002svg.2_Missense_Mutation_p.T336K|GPAT2_uc010yuh.1_Missense_Mutation_p.T392K|GPAT2_uc002svh.2_Missense_Mutation_p.T463K	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	463	Helical; (Potential).				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						CATAATGGCCGTGCTCATCAC	0.642		NA											63	209					1.72e-30	1.85e-30	1	0
IL18RAP	8807	broad.mit.edu	37	2	103068542	103068542	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:103068542C>T	uc002tbx.2	+	12	2185	c.1701C>T	c.(1699-1701)TTC>TTT	p.F567F	IL18RAP_uc010fiz.2_Silent_p.F425F	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	567	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						CTCAGGGATTCACGTGGAACC	0.478		NA											35	209					0	0	0	0
MYO7B	4648	broad.mit.edu	37	2	128366312	128366312	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:128366312G>A	uc002top.2	+	22	2726	c.2673G>A	c.(2671-2673)CAG>CAA	p.Q891Q		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	891						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCGAGGGGCAGAAAAGCCAAG	0.657		NA											6	35					0	0	0	0
POLR2D	5433	broad.mit.edu	37	2	128610608	128610608	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:128610608C>G	uc002tpj.2	-	2	200	c.145G>C	c.(145-147)GAG>CAG	p.E49Q	POLR2D_uc002tpk.2_Missense_Mutation_p.E49Q	NM_004805	NP_004796	O15514	RPB4_HUMAN	DNA directed RNA polymerase II polypeptide D	49					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		TCTGCACTCTCATTCTGCTGC	0.418		NA											51	217					0	0	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541612	133541612	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:133541612C>T	uc002ttp.2	-	14	3146	c.2772G>A	c.(2770-2772)GTG>GTA	p.V924V	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	924							protein binding				0						AAGGGGATTTCACCCCTGCCT	0.622		NA											21	38					0	0	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542513	133542513	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:133542513C>G	uc002ttp.2	-	14	2245	c.1871G>C	c.(1870-1872)GGA>GCA	p.G624A	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	624							protein binding				0						TAGAGATTTTCCAAACCCCAC	0.473		NA											18	76					0	0	0	0
YSK4	80122	broad.mit.edu	37	2	135745719	135745719	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:135745719G>C	uc002tue.1	-	7	754	c.723C>G	c.(721-723)CTC>CTG	p.L241L	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.L128L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Silent_p.L258L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	241							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAAAAGATGTGAGACTTGGAA	0.473		NA											34	168					0	0	0	0
MCM6	4175	broad.mit.edu	37	2	136620310	136620310	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:136620310C>T	uc002tuw.2	-	8	1163	c.1087G>A	c.(1087-1089)GAA>AAA	p.E363K		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	363	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CGTTTTACTTCATCATTGCCT	0.408		NA											40	80					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152548584	152548584	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:152548584G>C	uc010fnx.2	-	22	2286	c.2095C>G	c.(2095-2097)CAA>GAA	p.Q699E	NEB_uc010fny.1_Missense_Mutation_p.Q253E	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	699	Nebulin 16.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACTGTTTTGAGCTGCAACT	0.373		NA											49	170					0	0	0	0
FMNL2	114793	broad.mit.edu	37	2	153415272	153415272	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:153415272G>C	uc002tye.2	+	5	745	c.378G>C	c.(376-378)CTG>CTC	p.L126L		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	126	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						GAGAATTTCTGAATGAAGAAA	0.368		NA											8	30					0	0	0	0
GPD2	2820	broad.mit.edu	37	2	157425415	157425415	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:157425415C>G	uc002tzf.3	+	10	1604	c.1244C>G	c.(1243-1245)TCT>TGT	p.S415C	GPD2_uc010zch.1_Missense_Mutation_p.S188C|GPD2_uc002tzd.3_Missense_Mutation_p.S415C|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	415					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						GATACTCAGTCTATCTCCCGA	0.413		NA											61	241					0	0	0	0
ACVR1C	130399	broad.mit.edu	37	2	158399269	158399269	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:158399269G>C	uc002tzk.3	-	6	1292	c.1049C>G	c.(1048-1050)TCA>TGA	p.S350*	ACVR1C_uc002tzl.3_Nonsense_Mutation_p.S270*|ACVR1C_uc010fof.2_Nonsense_Mutation_p.S193*|ACVR1C_uc010foe.2_Nonsense_Mutation_p.S300*	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	350	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						GTTCAGTATTGAATCATGCTT	0.418		NA											72	150					0	0	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295624	160295624	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:160295624C>G	uc002uao.2	-	7	1148	c.796G>C	c.(796-798)GAT>CAT	p.D266H	BAZ2B_uc002uap.2_Missense_Mutation_p.D264H|BAZ2B_uc002uas.1_Missense_Mutation_p.D203H|BAZ2B_uc002uau.1_Missense_Mutation_p.D264H|BAZ2B_uc002uaq.1_Missense_Mutation_p.D194H|BAZ2B_uc002uat.3_Missense_Mutation_p.D203H|BAZ2B_uc010fop.1_Missense_Mutation_p.D264H	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						tctAGATCATCTGAATCACTG	0.333		NA											71	184					0	0	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295712	160295712	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:160295712C>G	uc002uao.2	-	7	1060	c.708G>C	c.(706-708)AAG>AAC	p.K236N	BAZ2B_uc002uap.2_Missense_Mutation_p.K234N|BAZ2B_uc002uas.1_Missense_Mutation_p.K173N|BAZ2B_uc002uau.1_Missense_Mutation_p.K234N|BAZ2B_uc002uaq.1_Missense_Mutation_p.K164N|BAZ2B_uc002uat.3_Missense_Mutation_p.K173N|BAZ2B_uc010fop.1_Missense_Mutation_p.K234N	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	236	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CCATTGCTTTCTTCCTTGGTT	0.353		NA											71	162					0	0	0	0
KCNH7	90134	broad.mit.edu	37	2	163393474	163393474	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:163393474C>G	uc002uch.1	-	3	636	c.424G>C	c.(424-426)GAG>CAG	p.E142Q	KCNH7_uc002uci.2_Missense_Mutation_p.E142Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	142	Cytoplasmic (Potential).|PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.E142E(1)		ovary(3)|skin(2)	5					Ibutilide(DB00308)	TTTACCCTCTCTGGGGTGGCA	0.378		NA											63	184					0	0	0	0
FIGN	55137	broad.mit.edu	37	2	164466133	164466133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:164466133G>A	uc002uck.1	-	3	2520	c.2209C>T	c.(2209-2211)CAG>TAG	p.Q737*		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	737						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						ATGCTAGGCTGAATCTTGCAG	0.413		NA											27	113					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166848631	166848631	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:166848631G>C	uc010zcz.1	-	26	5139	c.5121C>G	c.(5119-5121)TTC>TTG	p.F1707L		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1718	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGTAATTTGGAATAGGCAGA	0.468		NA											48	239					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168106418	168106418	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:168106418G>T	uc002udx.2	+	8	8534	c.8516G>T	c.(8515-8517)AGA>ATA	p.R2839I	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2664I|XIRP2_uc010fpq.2_Missense_Mutation_p.R2617I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R185I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2664					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ATAACTGAAAGAAAACACGAA	0.383		NA											4	119					0.00909568	0.00920196	1	0
LRP2	4036	broad.mit.edu	37	2	169989122	169989122	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:169989122C>G	uc002ues.2	-	77	13903	c.13690G>C	c.(13690-13692)GAG>CAG	p.E4564Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4564	Cytoplasmic (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGGTTTGTCTCTGGAACTATC	0.418		NA											4	240					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170139405	170139405	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:170139405C>G	uc002ues.2	-	10	1362	c.1149G>C	c.(1147-1149)CAG>CAC	p.Q383H	LRP2_uc010zdf.1_Missense_Mutation_p.Q383H	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	383	EGF-like 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTGCAATACTGTCCACGCT	0.403		NA											52	197					0	0	0	0
OLA1	29789	broad.mit.edu	37	2	175006586	175006586	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:175006586C>G	uc002uih.2	-	5	702	c.516G>C	c.(514-516)GTG>GTC	p.V172V	OLA1_uc002uii.2_Silent_p.V14V|OLA1_uc010fqq.2_Silent_p.V172V|OLA1_uc002uij.2_Silent_p.V14V|OLA1_uc002uik.2_Silent_p.V142V|OLA1_uc010fqr.2_Silent_p.V172V	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1 isoform 1	172					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			ovary(1)|breast(1)	2						CTCCTCCTCTCACAGCCACCT	0.294		NA											29	135					0	0	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178098944C>G	uc002ulh.3	-	2	656	c.101G>C	c.(100-102)CGA>CCA	p.R34P	NFE2L2_uc002ulg.3_Missense_Mutation_p.R18P|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18P|NFE2L2_uc002uli.3_Missense_Mutation_p.R18P|NFE2L2_uc010fra.2_Missense_Mutation_p.R18P|NFE2L2_uc010frb.2_Missense_Mutation_p.R18P	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373		NA	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			34	70					0	0	0	0
TTC30A	92104	broad.mit.edu	37	2	178482760	178482760	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178482760C>G	uc002ulo.2	-	1	935	c.670G>C	c.(670-672)GAG>CAG	p.E224Q		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	224					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ACACCTAGCTCAGGATGCTGG	0.522		NA											30	71					0	0	0	0
RBM45	129831	broad.mit.edu	37	2	178977396	178977396	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178977396G>C	uc002ulv.2	+	1	215	c.123G>C	c.(121-123)CTG>CTC	p.L41L		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	41	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGTCGGTGCTGAGGGAGCGCT	0.627		NA									OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	91					0	0	0	0
OSBPL6	114880	broad.mit.edu	37	2	179201157	179201157	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179201157G>A	uc002ulx.2	+	9	1165	c.787G>A	c.(787-789)GAA>AAA	p.E263K	OSBPL6_uc002ulw.2_Missense_Mutation_p.E263K|OSBPL6_uc002uly.2_Missense_Mutation_p.E263K|OSBPL6_uc010zfe.1_Missense_Mutation_p.E263K|OSBPL6_uc002ulz.2_Missense_Mutation_p.E263K|OSBPL6_uc002uma.2_Missense_Mutation_p.E242K	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	263					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGGTGTGCAGAAGGTTAGTT	0.493		NA											51	121					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179463706	179463706	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179463706C>T	uc010zfg.1	-	240	49251	c.49027G>A	c.(49027-49029)GAT>AAT	p.D16343N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D10038N|TTN_uc010zfi.1_Missense_Mutation_p.D9971N|TTN_uc010zfj.1_Missense_Mutation_p.D9846N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17270							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)			GAGCCTCCATCATATTCTGGC	0.463		NA											12	32					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179487426	179487426	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179487426C>T	uc010zfg.1	-	192	37404	c.37180G>A	c.(37180-37182)GAG>AAG	p.E12394K	TTN_uc010zfh.1_Missense_Mutation_p.E6089K|TTN_uc010zfi.1_Missense_Mutation_p.E6022K|TTN_uc010zfj.1_Missense_Mutation_p.E5897K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13321							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)			AGTTCACACTCAAATCGAGCC	0.373		NA											13	12					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179616570	179616570	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179616570T>C	uc002unb.2	-	46	10781	c.10557A>G	c.(10555-10557)GAA>GAG	p.E3519E	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)			AAACAACCGGTTCACCCTCTA	0.373		NA											48	174					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179639765	179639765	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179639765C>G	uc010zfg.1	-	29	6897	c.6673G>C	c.(6673-6675)GAC>CAC	p.D2225H	TTN_uc010zfh.1_Missense_Mutation_p.D2179H|TTN_uc010zfi.1_Missense_Mutation_p.D2179H|TTN_uc010zfj.1_Missense_Mutation_p.D2179H|TTN_uc002unb.2_Missense_Mutation_p.D2225H|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2225							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)			ACCTTTCTGTCAGAGTGCATC	0.408		NA											28	99					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179650577	179650577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179650577G>A	uc010zfg.1	-	14	2592	c.2368C>T	c.(2368-2370)CAG>TAG	p.Q790*	TTN_uc010zfh.1_Nonsense_Mutation_p.Q744*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q744*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q744*|TTN_uc002unb.2_Nonsense_Mutation_p.Q790*|TTN_uc010frg.1_Nonsense_Mutation_p.Q372*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	790							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)			AGACTCACCTGTGATGATATG	0.438		NA											33	68					0	0	0	0
COL3A1	1281	broad.mit.edu	37	2	189864098	189864098	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:189864098G>A	uc002uqj.1	+	30	2227	c.2110G>A	c.(2110-2112)GAA>AAA	p.E704K		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	704	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCTGGTCCCGAAGGAGGAAA	0.483		NA											10	35					0	0	0	0
MSTN	2660	broad.mit.edu	37	2	190927053	190927053	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:190927053C>G	uc002urp.2	-	1	403	c.270G>C	c.(268-270)CTG>CTC	p.L90L		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	90					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ACTGATCAATCAGTTCCCGGA	0.438		NA											11	126					0	0	0	0
STAT4	6775	broad.mit.edu	37	2	191929550	191929550	+	Silent	SNP	G	G	A	rs138111228	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:191929550G>A	uc002usm.1	-	8	1019	c.765C>T	c.(763-765)CTC>CTT	p.L255L	STAT4_uc002usn.1_Silent_p.L255L|STAT4_uc010zgk.1_Silent_p.L100L|STAT4_uc002uso.2_Silent_p.L255L	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	255					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAAGCTGGTCGAGCCCATTGT	0.502		NA											73	262					0	0	0	0
DNAH7	56171	broad.mit.edu	37	2	196661353	196661353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:196661353G>A	uc002utj.3	-	56	10563	c.10462C>T	c.(10462-10464)CAG>TAG	p.Q3488*	DNAH7_uc002uti.3_5'Flank	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3488	AAA 6 (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						TGACAATTCTGAAGAACAACC	0.418		NA											20	71					0	0	0	0
CFLAR	8837	broad.mit.edu	37	2	202025277	202025277	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:202025277G>A	uc002uxb.3	+	9	1368	c.916G>A	c.(916-918)GAC>AAC	p.D306N	CFLAR_uc010zhk.1_Missense_Mutation_p.D210N|CFLAR_uc002uxc.3_Missense_Mutation_p.D271N|CFLAR_uc010zhl.1_Missense_Mutation_p.D210N|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.D306N|CFLAR_uc002uxf.2_Missense_Mutation_p.D306N|CFLAR_uc010fsy.2_Intron|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Missense_Mutation_p.D210N|CFLAR_uc010fsz.2_Missense_Mutation_p.D61N|CFLAR_uc002uxg.2_Missense_Mutation_p.D61N|uc002uxh.1_5'Flank	NM_003879	NP_003870	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator isoform	306	Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Caspase.|Interaction with caspase-8 subunits p18 and p10.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding				0						CCGAGACTACGACAGCTTTGT	0.527		NA											61	219					0	0	0	0
CYP20A1	57404	broad.mit.edu	37	2	204143351	204143351	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:204143351G>T	uc002uzv.3	+	7	1357	c.735G>T	c.(733-735)AGG>AGT	p.R245S	CYP20A1_uc002uzx.3_Missense_Mutation_p.R143S|CYP20A1_uc010zif.1_Missense_Mutation_p.R253S|CYP20A1_uc002uzy.3_Missense_Mutation_p.R143S|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_5'UTR	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	245						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						GAAAAGGAAGGAACTTCAGTC	0.318		NA											6	41					1.64e-10	1.72e-10	1	0
ADAM23	8745	broad.mit.edu	37	2	207413038	207413038	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:207413038C>T	uc002vbq.2	+	8	1050	c.827C>T	c.(826-828)TCT>TTT	p.S276F	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	276					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCTTTCTCTCTGAATTACAG	0.388		NA											32	86					0	0	0	0
FAM119A	151194	broad.mit.edu	37	2	208477997	208477997	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:208477997C>T	uc002vcf.2	-	4	590	c.430G>A	c.(430-432)GAT>AAT	p.D144N	FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.D144N|FAM119A_uc002vcg.3_Missense_Mutation_p.D144N	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	144						integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		TATATGATATCAGCACCAAGT	0.393		NA											56	122					0	0	0	0
CPS1	1373	broad.mit.edu	37	2	211518779	211518779	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:211518779G>C	uc002vee.3	+	29	3643	c.3511G>C	c.(3511-3513)GAA>CAA	p.E1171Q	CPS1_uc010fur.2_Missense_Mutation_p.E1177Q|CPS1_uc010fus.2_Missense_Mutation_p.E720Q	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1171	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAAATTTGTTGAAGGGGCCCG	0.438		NA											21	99					0	0	0	0
ERBB4	2066	broad.mit.edu	37	2	212530143	212530143	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:212530143T>C	uc002veg.1	-	15	1874	c.1776A>G	c.(1774-1776)AAA>AAG	p.K592K	ERBB4_uc002veh.1_Silent_p.K592K|ERBB4_uc010zji.1_Silent_p.K592K|ERBB4_uc010zjj.1_Silent_p.K592K|ERBB4_uc010fut.1_Silent_p.K592K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	592	Extracellular (Potential).|Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATCTGGACATTTTTCCACAC	0.433		NA								TSP Lung(8;0.080)			28	85					0	0	0	0
RNF25	64320	broad.mit.edu	37	2	219529908	219529908	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:219529908C>G	uc002vit.2	-	8	724	c.636G>C	c.(634-636)CTG>CTC	p.L212L	RNF25_uc010fvw.2_Silent_p.L100L	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	212					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGCTTTCAGTGAGGCAA	0.478		NA											32	71					0	0	0	0
STK36	27148	broad.mit.edu	37	2	219538430	219538430	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:219538430G>A	uc002viu.2	+	3	433	c.167G>A	c.(166-168)CGG>CAG	p.R56Q	STK36_uc002viv.2_Missense_Mutation_p.R56Q|RNF25_uc002vit.2_5'Flank|RNF25_uc010fvw.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	56	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GAAATAATGCGGGGTCTGCGG	0.498		NA											14	61					0	0	0	0
SPEG	10290	broad.mit.edu	37	2	220309772	220309772	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:220309772G>C	uc010fwg.2	+	3	704	c.704G>C	c.(703-705)CGA>CCA	p.R235P	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	235					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)		CGGGCATCTCGAGCTAATCTG	0.701		NA											4	8					0	0	0	0
FARSB	10056	broad.mit.edu	37	2	223489148	223489148	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:223489148G>A	uc002vne.1	-	12	1048	c.1013C>T	c.(1012-1014)TCA>TTA	p.S338L	FARSB_uc010zlq.1_Missense_Mutation_p.S358L|FARSB_uc002vnf.1_Missense_Mutation_p.S239L	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	338	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATGACTTCTGATTTTAAATA	0.353		NA											19	84					0	0	0	0
COL4A3	1285	broad.mit.edu	37	2	228128542	228128542	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:228128542G>C	uc002vom.1	+	21	1359	c.1197G>C	c.(1195-1197)CTG>CTC	p.L399L	COL4A3_uc002von.1_Silent_p.L399L|COL4A3_uc002voo.1_Silent_p.L399L|COL4A3_uc002vop.1_Silent_p.L399L|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	399	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCCAGGCCTGAAAGGAAGTA	0.517		NA											9	44					0	0	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635840	233635840	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:233635840A>G	uc002vto.2	-	1	276	c.233T>C	c.(232-234)CTG>CCG	p.L78P	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_Intron|KCNJ13_uc002vtp.2_Missense_Mutation_p.L78P	NM_002242	NP_002233	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel J13	78	Helical; Name=M1; (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity				0		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CATCTCAGCCAGAACATACCA	0.468		NA											20	73					0	0	0	0
INPP5D	3635	broad.mit.edu	37	2	234094512	234094512	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234094512G>C	uc010zmo.1	+	20	2452	c.2299G>C	c.(2299-2301)GAA>CAA	p.E767Q	INPP5D_uc010zmp.1_Missense_Mutation_p.E766Q	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	767					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCAGGAAGGAGAAAATGAAGA	0.478		NA											9	25					0	0	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591192	234591192	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234591192C>T	uc002vut.2	+	1	609	c.609C>T	c.(607-609)TTC>TTT	p.F203F	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Silent_p.F203F	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN	UDP glycosyltransferase 1 family, polypeptide A7	203					drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCATGACTTTCAAGGAGAGAG	0.428		NA											105	251					0	0	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669410	234669410	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234669410C>T	uc002vvb.2	+	1	492	c.477C>T	c.(475-477)ATC>ATT	p.I159I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.I159I	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	159					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCAGCCCCATCGTGGCCCAGT	0.557		NA											75	156					0	0	0	0
AGAP1	116987	broad.mit.edu	37	2	236949416	236949416	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:236949416G>A	uc002vvs.2	+	15	2417	c.1822G>A	c.(1822-1824)GAG>AAG	p.E608K	AGAP1_uc002vvt.2_Missense_Mutation_p.E555K	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	608					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GAGCCAGAGCGAGGCCATGGC	0.602		NA											15	58					0	0	0	0
ASB1	51665	broad.mit.edu	37	2	239342304	239342304	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:239342304C>T	uc002vyg.2	+	2	245	c.159C>T	c.(157-159)CTC>CTT	p.L53L		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	53	ANK 1.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TCCAGACCCTCAGGAGCCTAT	0.607		NA											24	64					0	0	0	0
CAPN10	11132	broad.mit.edu	37	2	241534074	241534074	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:241534074C>G	uc002vzk.1	+	6	1129	c.945C>G	c.(943-945)CTC>CTG	p.L315L	CAPN10_uc010zoh.1_Silent_p.L315L|CAPN10_uc002vzl.1_Silent_p.L315L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.L187L|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	315	Calpain catalytic.				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)		TTGACGAGCTCACCGTTGGCT	0.642		NA											20	115					0	0	0	0
ZNF343	79175	broad.mit.edu	37	20	2464518	2464518	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:2464518G>A	uc002wge.1	-	6	1577	c.1089C>T	c.(1087-1089)AGC>AGT	p.S363S	ZNF343_uc010gao.1_Silent_p.S363S|ZNF343_uc002wgd.1_Silent_p.S273S	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	363	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ATGACTTCTCGCTAAAGCCTC	0.502		NA											14	62					0	0	0	0
IDH3B	3420	broad.mit.edu	37	20	2640908	2640908	+	Splice_Site	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:2640908C>T	uc002wgp.2	-	8	777	c.768_splice	c.e8+1	p.Q256_splice	IDH3B_uc002wgq.2_Splice_Site_p.Q256_splice|IDH3B_uc002wgr.2_Splice_Site_p.Q104_splice	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform						isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	GGAGGCCTCACCTGCATGCAG	0.517		NA											14	48					0	0	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128246	3128246	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:3128246C>T	uc002whz.2	-	2	1782	c.1471G>A	c.(1471-1473)GAT>AAT	p.D491N	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	491					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						AGAGCGAAATCAATTAACTCT	0.468		NA											41	78					0	0	0	0
ATRN	8455	broad.mit.edu	37	20	3581669	3581669	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:3581669C>G	uc002wim.2	+	23	3731	c.3641C>G	c.(3640-3642)TCA>TGA	p.S1214*	ATRN_uc002wil.2_Nonsense_Mutation_p.S1214*	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	1214	Extracellular (Potential).				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						GCCAGTTTCTCAGGTAAAGAC	0.333		NA											7	126					0	0	0	0
LRRN4	164312	broad.mit.edu	37	20	6021786	6021786	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:6021786G>A	uc002wmo.2	-	5	2329	c.2105C>T	c.(2104-2106)TCC>TTC	p.S702F		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	702	Cytoplasmic (Potential).					integral to membrane				skin(3)	3						GAGACATGCGGACAGCACCAC	0.687		NA											9	16					0	0	0	0
JAG1	182	broad.mit.edu	37	20	10653358	10653358	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:10653358G>A	uc002wnw.2	-	2	894	c.378C>T	c.(376-378)TTC>TTT	p.F126F		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	126	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						CCGGCCAGGCGAAACTGAAAG	0.652		NA							Alagille_Syndrome				23	49					0	0	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18162426	18162426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:18162426G>C	uc002wqj.2	+	8	2366	c.1744G>C	c.(1744-1746)GAT>CAT	p.D582H	CSRP2BP_uc002wqk.2_Missense_Mutation_p.D454H|CSRP2BP_uc010zru.1_Missense_Mutation_p.D453H	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	582					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						AGGATCAGAAGATATGGCTGT	0.443		NA											57	117					0	0	0	0
ZHX3	23051	broad.mit.edu	37	20	39832032	39832032	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:39832032G>C	uc002xjs.1	-	3	1903	c.1525C>G	c.(1525-1527)CTG>GTG	p.L509V	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.L509V|ZHX3_uc002xjt.1_Missense_Mutation_p.L509V|ZHX3_uc002xju.1_Missense_Mutation_p.L509V|ZHX3_uc002xjv.1_Missense_Mutation_p.L509V|ZHX3_uc002xjw.1_Missense_Mutation_p.L509V|ZHX3_uc010ggg.1_Missense_Mutation_p.L509V	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	509	Required for nuclear localization.|Homeobox 2.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CTCCCTTTCAGAGCTGACAGC	0.527		NA											18	77					0	0	0	0
SEMG2	6407	broad.mit.edu	37	20	43850534	43850534	+	Missense_Mutation	SNP	G	G	C	rs147702753	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:43850534G>C	uc010ggz.2	+	2	318	c.261G>C	c.(259-261)TTG>TTC	p.L87F	SEMG2_uc002xnk.2_Missense_Mutation_p.L87F|SEMG2_uc002xnl.2_Missense_Mutation_p.L87F	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	87	Repeat-rich region.|3-1.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AATATGATTTGAATGCCCTAC	0.363		NA											35	90					0	0	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44512005	44512005	+	Silent	SNP	C	C	G	rs116789871	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:44512005C>G	uc010ghi.2	+	2	887	c.774C>G	c.(772-774)CTC>CTG	p.L258L	ZSWIM1_uc010zxh.1_Silent_p.L131L	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	258							zinc ion binding			skin(1)	1		Myeloproliferative disorder(115;0.028)				TCCAGAGCCTCGAGGTCACCA	0.572		NA											3	149					0	0	0	0
KCNB1	3745	broad.mit.edu	37	20	47990509	47990509	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:47990509C>T	uc002xur.1	-	2	1752	c.1588G>A	c.(1588-1590)GAA>AAA	p.E530K	KCNB1_uc002xus.1_Missense_Mutation_p.E530K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	530	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TACATGTCTTCCAACTGCTGA	0.468		NA											98	295					0	0	0	0
B4GALT5	9334	broad.mit.edu	37	20	48330154	48330154	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:48330154G>A	uc002xuu.3	-	1	268	c.74C>T	c.(73-75)TCG>TTG	p.S25L		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	25	Helical; Signal-anchor for type II membrane protein; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CAGCGAGGACGAGAGAGAAAA	0.706		NA											3	5					0	0	0	0
DPM1	8813	broad.mit.edu	37	20	49552791	49552791	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:49552791C>T	uc002xvw.1	-	8	572	c.572G>A	c.(571-573)CGA>CAA	p.R191Q	DPM1_uc002xvv.1_Missense_Mutation_p.R121Q|DPM1_uc002xvx.1_RNA	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	191				R -> P (in Ref. 6; AAC98797).	C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1						AACTTCTTTTCGGTATAATCT	0.318		NA											21	54					0	0	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594629	61594629	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:61594629C>T	uc002yea.3	+	6	817	c.633C>T	c.(631-633)CTC>CTT	p.L211L	SLC17A9_uc002ydz.3_Silent_p.L205L|SLC17A9_uc011aap.1_Silent_p.L231L	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	211					exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						CCTCAGATCTCATCCTGGCCT	0.622		NA											7	45					0	0	0	0
GMEB2	26205	broad.mit.edu	37	20	62234366	62234366	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:62234366G>T	uc002yfp.1	-	3	788	c.309C>A	c.(307-309)CTC>CTA	p.L103L	GMEB2_uc002yfo.1_Silent_p.L25L|GMEB2_uc002yfq.1_Silent_p.L103L	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	103	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCTCCAGATGAGGTTGGCTC	0.537		NA											7	212					0.00198382	0.00201756	1	0
UCKL1	54963	broad.mit.edu	37	20	62587639	62587639	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:62587639C>G	uc010gkn.2	-	1	130	c.87G>C	c.(85-87)GAG>GAC	p.E29D	UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|UCKL1AS_uc011abp.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	29					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTCGCTTTTCTCAGCCTGCC	0.741		NA											4	17					0	0	0	0
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs76467559	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:11014937C>T	uc002yis.1	-	7		c.1508_splice	c.e7+1					P56180	TPTE_HUMAN	Homo sapiens putative tyrosine phosphatase mRNA, complete cds.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328		NA											3	54					0	0	0	0
APP	351	broad.mit.edu	37	21	27284272	27284272	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:27284272C>T	uc002ylz.2	-	14	1890	c.1690G>A	c.(1690-1692)GAG>AAG	p.E564K	APP_uc011acg.1_Missense_Mutation_p.E72K|APP_uc010glk.2_Missense_Mutation_p.E540K|APP_uc002yma.2_Missense_Mutation_p.E545K|APP_uc011ach.1_Missense_Mutation_p.E508K|APP_uc002ymb.2_Missense_Mutation_p.E489K|APP_uc010glj.2_Missense_Mutation_p.E433K|APP_uc011aci.1_Missense_Mutation_p.E454K	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	564	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGAAGCAGCTCATCTAAACCA	0.284		NA											16	56					0	0	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338537	28338537	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:28338537G>A	uc002ymg.2	-	1	903	c.174C>T	c.(172-174)CCC>CCT	p.P58P		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	58					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCGGGTGGCCGGGAGGCTCGG	0.726		NA											6	39					0	0	0	0
TIAM1	7074	broad.mit.edu	37	21	32503217	32503217	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:32503217C>G	uc002yow.1	-	25	4405	c.3933G>C	c.(3931-3933)AAG>AAC	p.K1311N	TIAM1_uc011adk.1_Missense_Mutation_p.K1311N|TIAM1_uc011adl.1_Missense_Mutation_p.K1251N	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1311	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CAAGTTTCTTCTTCTGTTTGG	0.348		NA											18	66					0	0	0	0
MRAP	56246	broad.mit.edu	37	21	33671366	33671366	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:33671366G>A	uc002ypj.2	+	3	271	c.84G>A	c.(82-84)GAG>GAA	p.E28E	MRAP_uc002ypk.2_Silent_p.E28E|MRAP_uc011ado.1_Intron|MRAP_uc002ypl.2_Silent_p.E28E	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	28	Cytoplasmic (Potential).				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding				0						CCGTGGACGAGAAGAAGCTGA	0.577		NA											16	26					0	0	0	0
CLIC6	54102	broad.mit.edu	37	21	36079593	36079593	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:36079593G>C	uc010gmt.1	+	3	1444	c.1444G>C	c.(1444-1446)GAG>CAG	p.E482Q	CLIC6_uc002yuf.1_Missense_Mutation_p.E464Q	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	482						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						TTATGATGGTGAGAGTATCGG	0.423		NA											20	78					0	0	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884327	38884327	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:38884327G>C	uc002ywk.2	+	11	1860	c.1785G>C	c.(1783-1785)CAG>CAC	p.Q595H	DYRK1A_uc002ywi.2_3'UTR|DYRK1A_uc002ywj.2_Missense_Mutation_p.Q586H|DYRK1A_uc002ywl.2_3'UTR|DYRK1A_uc002ywm.2_3'UTR|DYRK1A_uc011aei.1_Missense_Mutation_p.Q356H	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	595					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						CCCCTCAACAGAATGCATTGC	0.388		NA											22	59					0	0	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672179	39672179	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:39672179G>C	uc002ywv.2	+	4	1298	c.996G>C	c.(994-996)CAG>CAC	p.Q332H	KCNJ15_uc002yww.2_Missense_Mutation_p.Q332H|KCNJ15_uc002ywx.2_Missense_Mutation_p.Q332H	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	332	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						AGTTTGAACAGATTCGGAAAA	0.433		NA											31	105					0	0	0	0
ETS2	2114	broad.mit.edu	37	21	40191474	40191474	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:40191474G>A	uc002yxg.2	+	8	1055	c.859G>A	c.(859-861)GAG>AAG	p.E287K	ETS2_uc002yxf.2_Missense_Mutation_p.E427K	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	287					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGACAGCTTCGAGAGCTCAGA	0.552		NA											16	54					0	0	0	0
BRWD1	54014	broad.mit.edu	37	21	40574319	40574319	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:40574319G>C	uc002yxk.1	-	38	4656	c.4517C>G	c.(4516-4518)TCA>TGA	p.S1506*	BRWD1_uc010goc.1_Nonsense_Mutation_p.S149*|BRWD1_uc002yxl.2_Nonsense_Mutation_p.S1506*|BRWD1_uc010god.1_Nonsense_Mutation_p.S424*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGCTGAATCTGAAGAGTCACC	0.393		NA											31	85					0	0	0	0
IGSF5	150084	broad.mit.edu	37	21	41165472	41165472	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:41165472C>G	uc002yyo.2	+	8	1163	c.1060C>G	c.(1060-1062)CTC>GTC	p.L354V		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	354	Cytoplasmic (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				CACCGCTTCTCTCCCTCCCAA	0.423		NA											31	99					0	0	0	0
MX1	4599	broad.mit.edu	37	21	42823125	42823125	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:42823125G>A	uc002yzh.2	+	17	2411	c.1464G>A	c.(1462-1464)TCG>TCA	p.S488S	MX1_uc002yzi.2_Silent_p.S488S|MX1_uc010goq.2_Silent_p.S488S	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	488					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAGATGTTTCGATAAAAAATT	0.313		NA											5	461					0	0	0	0
SIK1	150094	broad.mit.edu	37	21	44841567	44841567	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:44841567G>C	uc002zdf.2	-	5	577	c.450C>G	c.(448-450)CTC>CTG	p.L150L		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	150	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						TCTCGGTCTTGAGGTCCCGGT	0.617		NA											12	51					0	0	0	0
RRP1B	23076	broad.mit.edu	37	21	45107740	45107740	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45107740G>A	uc002zdk.2	+	13	1599	c.1485G>A	c.(1483-1485)GAG>GAA	p.E495E	RRP1B_uc002zdl.2_Silent_p.E28E	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	495					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		TGCCCCCAGAGGACATGTCTC	0.577		NA											24	98					0	0	0	0
C21orf33	8209	broad.mit.edu	37	21	45554008	45554008	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45554008G>A	uc002zec.3	+	2	252	c.166G>A	c.(166-168)GAT>AAT	p.D56N	C21orf33_uc002zed.3_Missense_Mutation_p.D56N	NM_004649	NP_004640	P30042	ES1_HUMAN	es1 protein isoform Ia precursor	56						mitochondrion				ovary(1)	1				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CGGAGTCTACGATGGGACCGA	0.672		NA											7	29					0	0	0	0
TRPM2	7226	broad.mit.edu	37	21	45826645	45826645	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45826645G>T	uc002zet.1	+	20	3172	c.2959G>T	c.(2959-2961)GAC>TAC	p.D987Y	TRPM2_uc002zeu.1_Missense_Mutation_p.D987Y|TRPM2_uc002zew.1_Missense_Mutation_p.D987Y|TRPM2_uc010gpt.1_Missense_Mutation_p.D987Y|TRPM2_uc002zex.1_Missense_Mutation_p.D773Y|TRPM2_uc002zey.1_Missense_Mutation_p.D500Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	987	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGGCTACATCGACGGTAGGAG	0.667		NA											6	12					0.00116845	0.0011888	1	0
TRPM2	7226	broad.mit.edu	37	21	45838391	45838391	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45838391C>T	uc002zet.1	+	23	3627	c.3414C>T	c.(3412-3414)TTC>TTT	p.F1138F	TRPM2_uc002zeu.1_Silent_p.F1138F|TRPM2_uc002zew.1_Silent_p.F1138F|TRPM2_uc010gpt.1_Silent_p.F1138F|TRPM2_uc002zex.1_Silent_p.F924F|TRPM2_uc002zey.1_Silent_p.F651F|uc011afe.1_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1138	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						ACCGACAGTTCCAGCAAAAGC	0.612		NA											37	140					0	0	0	0
IL17RA	23765	broad.mit.edu	37	22	17583169	17583169	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:17583169G>C	uc002zly.2	+	7	872	c.739G>C	c.(739-741)GAG>CAG	p.E247Q	IL17RA_uc010gqt.2_Missense_Mutation_p.E247Q	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	247	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGTTGCTTTGAGCACATGCA	0.547		NA											56	145					0	0	0	0
CECR6	27439	broad.mit.edu	37	22	17601079	17601079	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:17601079G>A	uc002zmb.2	-	1	1135	c.939C>T	c.(937-939)TTC>TTT	p.F313F	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	313	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCAGGTAGGCGAAGGCGAACT	0.453		NA											24	64					0	0	0	0
HSCB	150274	broad.mit.edu	37	22	29141879	29141879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:29141879G>A	uc003aea.2	+	4	492	c.451G>A	c.(451-453)GAA>AAA	p.E151K		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	151					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1						AGAGATTCCTGAAAGGACAGA	0.378		NA											32	100					0	0	0	0
DUSP18	150290	broad.mit.edu	37	22	31059444	31059444	+	Missense_Mutation	SNP	G	G	A	rs142285924	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31059444G>A	uc003aiu.2	-	2	1048	c.547C>T	c.(547-549)CGT>TGT	p.R183C	SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Missense_Mutation_p.R183C	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	183						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						ATCATCAAACGGACTTCCTTC	0.468		NA											16	79					0	0	0	0
OSBP2	23762	broad.mit.edu	37	22	31091253	31091253	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31091253C>T	uc003aiy.1	+	1	461	c.357C>T	c.(355-357)TTC>TTT	p.F119F	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Silent_p.F119F|OSBP2_uc011alb.1_Silent_p.F119F|OSBP2_uc003aiz.1_Silent_p.F119F	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	119					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CTGGGCCCTTCACTAAGGCCG	0.682		NA											22	55					0	0	0	0
PIK3IP1	113791	broad.mit.edu	37	22	31685563	31685563	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31685563C>A	uc003akm.2	-	4	620	c.430G>T	c.(430-432)GCA>TCA	p.A144S	PIK3IP1_uc003akl.2_RNA|PIK3IP1_uc011alo.1_Missense_Mutation_p.A144S|PIK3IP1_uc003akn.2_Missense_Mutation_p.A124S|PIK3IP1_uc003ako.2_Missense_Mutation_p.A144S	NM_052880	NP_443112	Q96FE7	P3IP1_HUMAN	HGFL protein isoform 1	144	Extracellular (Potential).					integral to membrane				ovary(1)	1						TGCACAGCTGCCGCCTCACTC	0.617		NA											4	6					0.000602214	0.000614699	1	0
SFI1	9814	broad.mit.edu	37	22	32014301	32014301	+	Missense_Mutation	SNP	T	T	A	rs111513493		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:32014301T>A	uc003ale.2	+	33	4019	c.3626T>A	c.(3625-3627)GTG>GAG	p.V1209E	SFI1_uc003alf.2_Missense_Mutation_p.V1178E|SFI1_uc003alg.2_Missense_Mutation_p.V1127E|SFI1_uc011alp.1_Missense_Mutation_p.V1115E|SFI1_uc011alq.1_Missense_Mutation_p.V1154E|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.V301E|SFI1_uc003alj.2_Missense_Mutation_p.V343E	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	1209					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						TGGCCCCAGGTGGAAATGCAG	0.701		NA											10	26					0	0	0	0
MCM5	4174	broad.mit.edu	37	22	35817335	35817335	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:35817335C>T	uc003anu.3	+	15	1951	c.1857C>T	c.(1855-1857)ATC>ATT	p.I619I	MCM5_uc010gwr.2_Silent_p.I428I|MCM5_uc003anv.3_Silent_p.I576I|MCM5_uc003anw.1_Silent_p.I403I	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	619					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						TTGTGCGCATCGCGGAAGCCC	0.637		NA											30	73					0	0	0	0
MYH9	4627	broad.mit.edu	37	22	36708220	36708220	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:36708220G>A	uc003apg.2	-	14	1833	c.1602C>T	c.(1600-1602)TTC>TTT	p.F534F	MYH9_uc003aph.1_Silent_p.F398F	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	534	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TGGCTTTGGGGAACCAGCACT	0.632		NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				36	111					0	0	0	0
SSTR3	6753	broad.mit.edu	37	22	37603432	37603432	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:37603432C>G	uc003ara.2	-	2	473	c.411G>C	c.(409-411)ATG>ATC	p.M137I	SSTR3_uc003arb.2_Missense_Mutation_p.M137I	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	137	Helical; Name=3; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						GGTCCACGCTCATGACAGTCA	0.667		NA											34	94					0	0	0	0
CARD10	29775	broad.mit.edu	37	22	37888526	37888526	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:37888526G>A	uc003asx.1	-	18	2670	c.2667C>T	c.(2665-2667)TCC>TCT	p.S889S	CARD10_uc003ast.1_RNA|CARD10_uc003asu.1_5'UTR|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Silent_p.S207S|CARD10_uc003asw.1_Silent_p.S603S|CARD10_uc003asy.1_Silent_p.S889S	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	889					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					CAGGCGCTGAGGATGGGCACA	0.667		NA											21	49					0	0	0	0
CSNK1E	1454	broad.mit.edu	37	22	38696025	38696026	+	Missense_Mutation	DNP	AT	AT	TG			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:38696025_38696026AT>TG	uc003avj.2	-	6	871_872	c.610_611AT>CA	c.(610-612)ATG>CAG	p.M204Q	CSNK1E_uc003avk.2_Missense_Mutation_p.M204Q|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.M204Q|CSNK1E_uc003avo.2_Missense_Mutation_p.M204Q|CSNK1E_uc003avp.1_Missense_Mutation_p.M204Q|CSNK1E_uc003avq.1_Missense_Mutation_p.M204Q	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	204	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					GTTGAAGTACATGAGCACGTAG	0.579		NA											29	89					0	0	0	0
CACNA1I	8911	broad.mit.edu	37	22	40060842	40060842	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:40060842C>G	uc003ayc.2	+	21	3765	c.3765C>G	c.(3763-3765)ATC>ATG	p.I1255M	CACNA1I_uc003ayd.2_Missense_Mutation_p.I1220M|CACNA1I_uc003aye.2_Missense_Mutation_p.I1170M|CACNA1I_uc003ayf.2_Missense_Mutation_p.I1135M	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1255	Helical; Name=S3 of repeat III; (Potential).|III.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCATCGACATCGTGGTGTCCC	0.642		NA											11	61					0	0	0	0
ST13	6767	broad.mit.edu	37	22	41226906	41226906	+	Missense_Mutation	SNP	C	C	T	rs148186652	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:41226906C>T	uc003aze.2	-	9	879	c.736G>A	c.(736-738)GAG>AAG	p.E246K	ST13_uc011aow.1_Missense_Mutation_p.E236K	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	246							protein binding, bridging				0						TCTTTGATCTCTCGCTCTTCA	0.413		NA											32	130					0	0	0	0
PACSIN2	11252	broad.mit.edu	37	22	43287098	43287098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:43287098G>T	uc010gzg.2	-	4	530	c.308C>A	c.(307-309)TCA>TAA	p.S103*	PACSIN2_uc003bdg.3_Nonsense_Mutation_p.S103*|PACSIN2_uc003bde.3_Nonsense_Mutation_p.S103*|PACSIN2_uc003bdf.3_Nonsense_Mutation_p.S103*	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	103					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				GTTCATCAGTGAGGCCTTCAC	0.582		NA											20	83					1.64e-05	1.69e-05	1	0
PLXNB2	23654	broad.mit.edu	37	22	50718104	50718104	+	Silent	SNP	G	G	C	rs149176335	by1000genomes	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:50718104G>C	uc003bkv.3	-	27	4450	c.4344C>G	c.(4342-4344)CTC>CTG	p.L1448L	PLXNB2_uc003bkt.1_Silent_p.L240L|PLXNB2_uc003bku.1_Silent_p.L433L	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1448	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTGTCGTTGAGAGTGTACT	0.617		NA											4	276					0	0	0	0
SRGAP3	9901	broad.mit.edu	37	3	9074387	9074387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:9074387G>A	uc003brf.1	-	12	2162	c.1486C>T	c.(1486-1488)CTC>TTC	p.L496F	SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	496	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TACACTGAGAGAGGCCTAGGT	0.468		NA	T	RAF1	pilocytic astrocytoma								45	40					0	0	0	0
BRPF1	7862	broad.mit.edu	37	3	9783766	9783766	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:9783766C>T	uc003bse.2	+	6	2311	c.1912C>T	c.(1912-1914)CGC>TGC	p.R638C	BRPF1_uc003bsf.2_Missense_Mutation_p.R638C|BRPF1_uc003bsg.2_Missense_Mutation_p.R638C|BRPF1_uc011ati.1_Missense_Mutation_p.R638C	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	638	Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CATCCTCCTTCGCAAAACCTT	0.522		NA											38	48					0	0	0	0
TATDN2	9797	broad.mit.edu	37	3	10291085	10291085	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:10291085G>A	uc003bvg.2	+	2	782	c.201G>A	c.(199-201)CGG>CGA	p.R67R	TATDN2_uc003bvf.2_Silent_p.R67R|TATDN2_uc011atr.1_Silent_p.R67R|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	67						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						CTTGCTCGCGGAGGTTATCCT	0.652		NA											61	70					0	0	0	0
PLCL2	23228	broad.mit.edu	37	3	17056235	17056235	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:17056235C>T	uc011awc.1	+	6	2931	c.2826C>T	c.(2824-2826)CTC>CTT	p.L942L	PLCL2_uc011awd.1_Silent_p.L824L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	950					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						TGTGTGGCCTCTCCTCTGTGG	0.488		NA											122	161					0	0	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184825	39184825	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:39184825G>C	uc003cjg.2	-	5	1705	c.1491C>G	c.(1489-1491)CTC>CTG	p.L497L	CSRNP1_uc003cjh.2_Silent_p.L497L	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	AXIN1 up-regulated 1	497					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(4)|skin(1)	5						AAGACAAGCTGAGATCCACTG	0.552		NA											28	33					0	0	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045664	47045664	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:47045664C>T	uc003cqp.2	+	37	6158	c.5979C>T	c.(5977-5979)ATC>ATT	p.I1993I	NBEAL2_uc010hjm.1_Silent_p.I1370I|NBEAL2_uc010hjn.1_Silent_p.I389I|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1993							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTTCTTTATCGATCAGGCCA	0.602		NA											209	187					0	0	0	0
USP19	10869	broad.mit.edu	37	3	49149116	49149116	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49149116G>T	uc003cwd.1	-	20	2886	c.2725C>A	c.(2725-2727)CAG>AAG	p.Q909K	USP19_uc003cwa.2_Missense_Mutation_p.Q717K|USP19_uc003cvz.3_Missense_Mutation_p.Q1012K|USP19_uc011bcg.1_Missense_Mutation_p.Q1000K|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.Q667K|USP19_uc011bch.1_Missense_Mutation_p.Q1010K	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	909	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCAGGTGGCTGAATGGGGTCT	0.672		NA											55	52					6.31e-27	6.77e-27	1	0
NICN1	84276	broad.mit.edu	37	3	49466543	49466543	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49466543C>T	uc003cwz.1	-	1	215	c.130G>A	c.(130-132)GAG>AAG	p.E44K	NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.E44K	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	nicolin 1	44						microtubule|nucleus					0				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGCTCACCTCGAAGGGAGCG	0.647		NA											24	35					0	0	0	0
MST1	4485	broad.mit.edu	37	3	49723345	49723345	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49723345G>A	uc003cxg.2	-	10	1270	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	MST1_uc011bcs.1_Silent_p.P438P	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	386	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACACCCTTGCGGGTCTTGCTG	0.731		NA											3	81					0	0	0	0
MST1R	4486	broad.mit.edu	37	3	49927430	49927430	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49927430C>G	uc003cxy.3	-	19	4138	c.3874G>C	c.(3874-3876)GAC>CAC	p.D1292H	MST1R_uc011bdc.1_Missense_Mutation_p.D171H	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1292	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCAAAAGGGTCAATGTGGCGG	0.557		NA											3	91					0	0	0	0
RBM5	10181	broad.mit.edu	37	3	50145726	50145726	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:50145726C>G	uc003cyg.2	+	14	1329	c.1181C>G	c.(1180-1182)TCA>TGA	p.S394*	RBM5_uc011bdj.1_Nonsense_Mutation_p.S338*|RBM5_uc011bdk.1_Nonsense_Mutation_p.S222*	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	394	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGATGCATCATCTGCATCA	0.373		NA											61	85					0	0	0	0
ALAS1	211	broad.mit.edu	37	3	52240616	52240616	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:52240616C>T	uc003dcy.1	+	8	1351	c.1014C>T	c.(1012-1014)AAC>AAT	p.N338N	ALAS1_uc003dcz.1_Silent_p.N338N|ALAS1_uc011bec.1_Silent_p.N355N	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	338					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATTCTGGGAACCATGCCTCCA	0.438		NA											83	111					0	0	0	0
CACNA1D	776	broad.mit.edu	37	3	53757550	53757550	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:53757550C>G	uc003dgv.3	+	13	1919	c.1756C>G	c.(1756-1758)CTT>GTT	p.L586V	CACNA1D_uc003dgu.3_Missense_Mutation_p.L606V|CACNA1D_uc003dgy.3_Missense_Mutation_p.L586V|CACNA1D_uc003dgw.3_Missense_Mutation_p.L253V	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	586	Helical; Name=S3 of repeat II; (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTCGTCTCTCTTTTCAACCG	0.478		NA											12	273					0	0	0	0
ATXN7	6314	broad.mit.edu	37	3	63982084	63982084	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:63982084G>A	uc003dlw.3	+	12	3139	c.2586G>A	c.(2584-2586)GTG>GTA	p.V862V	ATXN7_uc003dlv.2_Silent_p.V862V|ATXN7_uc010hnv.2_Silent_p.V862V|ATXN7_uc011bfn.1_Silent_p.V717V	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	862					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGCCAGCCGTGAACAATGTCC	0.502		NA											21	48					0	0	0	0
IMPG2	50939	broad.mit.edu	37	3	100976587	100976587	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:100976587G>T	uc003duq.1	-	10	1142	c.939C>A	c.(937-939)TTC>TTA	p.F313L	IMPG2_uc011bhe.1_Missense_Mutation_p.F176L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	313	Extracellular (Potential).|SEA 1.				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						CCTCACCATTGAAGGTAACTG	0.468		NA											24	181					2.66e-16	2.82e-16	1	0
BBX	56987	broad.mit.edu	37	3	107520004	107520004	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:107520004G>C	uc010hpr.2	+	17	2941	c.2614G>C	c.(2614-2616)GAC>CAC	p.D872H	BBX_uc003dwk.3_Missense_Mutation_p.D842H|BBX_uc003dwl.3_Missense_Mutation_p.M535I|BBX_uc003dwm.3_Missense_Mutation_p.D842H|BBX_uc003dwo.3_Missense_Mutation_p.M188I	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGACTGCAATGACAAATGCTC	0.507		NA											60	83					0	0	0	0
BBX	56987	broad.mit.edu	37	3	107520042	107520042	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:107520042G>C	uc010hpr.2	+	17	2979	c.2652G>C	c.(2650-2652)CGG>CGC	p.R884R	BBX_uc003dwk.3_Silent_p.R854R|BBX_uc003dwl.3_Missense_Mutation_p.G548A|BBX_uc003dwm.3_Silent_p.R854R|BBX_uc003dwo.3_Missense_Mutation_p.G201A	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGGAGACGCGGAGCAGTACTC	0.527		NA											41	46					0	0	0	0
DZIP3	9666	broad.mit.edu	37	3	108326985	108326985	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108326985G>C	uc003dxd.2	+	3	504	c.82G>C	c.(82-84)GAA>CAA	p.E28Q	DZIP3_uc003dxf.1_Missense_Mutation_p.E28Q|DZIP3_uc011bhm.1_5'UTR|DZIP3_uc003dxe.1_Missense_Mutation_p.E28Q	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	28	Potential.				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAATAAGCTAGAAAAATCATC	0.313		NA											39	154					0	0	0	0
DZIP3	9666	broad.mit.edu	37	3	108393015	108393015	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108393015C>G	uc003dxd.2	+	24	3102	c.2680C>G	c.(2680-2682)CAC>GAC	p.H894D	DZIP3_uc003dxf.1_Missense_Mutation_p.H894D|DZIP3_uc011bhm.1_Missense_Mutation_p.H345D	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	894					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CAGGGTGACTCACATGGCAGC	0.408		NA											38	167					0	0	0	0
MORC1	27136	broad.mit.edu	37	3	108746617	108746617	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108746617A>T	uc003dxl.2	-	17	1772	c.1685T>A	c.(1684-1686)CTG>CAG	p.L562Q	MORC1_uc011bhn.1_Missense_Mutation_p.L562Q	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	562					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CTGTTCTGCCAGTCTATTTTG	0.408		NA											10	286					0	0	0	0
MORC1	27136	broad.mit.edu	37	3	108812388	108812388	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108812388C>T	uc003dxl.2	-	8	671	c.584G>A	c.(583-585)GGT>GAT	p.G195D	MORC1_uc011bhn.1_Missense_Mutation_p.G195D	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	195					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CAGCAAAGTACCTGGTAGAAA	0.348		NA											41	51					0	0	0	0
CCDC52	152185	broad.mit.edu	37	3	113172409	113172409	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:113172409G>C	uc003eag.3	-	14	2337	c.2046C>G	c.(2044-2046)ATC>ATG	p.I682M	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.I578M	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	682					cell division|mitosis	centriole|spindle	protein binding				0						TATGTGCCTTGATAGCTGAAT	0.418		NA											114	155					0	0	0	0
SIDT1	54847	broad.mit.edu	37	3	113286437	113286437	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:113286437C>T	uc003eak.2	+	3	1046	c.395C>T	c.(394-396)TCA>TTA	p.S132L	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.S132L|SIDT1_uc011big.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	132	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TTATGTCCCTCAGAAGCAACC	0.473		NA											135	169					0	0	0	0
C3orf1	51300	broad.mit.edu	37	3	119236098	119236098	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119236098G>C	uc003ecn.2	+	6	856	c.643G>C	c.(643-645)GAG>CAG	p.E215Q	C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	hypothetical protein LOC51300	215						integral to membrane|mitochondrial inner membrane	protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.186)		GTACTCTGGTGAGACTGTTCA	0.468		NA											6	188					0	0	0	0
PLA1A	51365	broad.mit.edu	37	3	119325723	119325723	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119325723C>T	uc003ecu.2	+	2	215	c.176C>T	c.(175-177)TCG>TTG	p.S59L	PLA1A_uc003ecv.2_Missense_Mutation_p.S59L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	59					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TTTGTCCCTTCGAATCCTAGC	0.507		NA											68	364					0	0	0	0
GSK3B	2932	broad.mit.edu	37	3	119624670	119624670	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119624670C>T	uc003edo.2	-	7	1728	c.745G>A	c.(745-747)GAG>AAG	p.E249K	GSK3B_uc003edn.2_Missense_Mutation_p.E249K	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	249	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AGTAACAGCTCAGCCAACACA	0.353		NA											267	403					0	0	0	0
FSTL1	11167	broad.mit.edu	37	3	120118774	120118774	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:120118774C>T	uc003eds.2	-	10	1013	c.838G>A	c.(838-840)GAG>AAG	p.E280K	FSTL1_uc011bjh.1_Missense_Mutation_p.E245K	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	280	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		ATCTCCTCCTCTGTCTGGGTC	0.542		NA											11	20					0	0	0	0
PARP14	54625	broad.mit.edu	37	3	122447299	122447299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:122447299C>T	uc003efq.3	+	17	5320	c.5261C>T	c.(5260-5262)TCA>TTA	p.S1754L	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.S1471L	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1754	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		GGAAATCATTCATTAATTGTG	0.388		NA											51	200					0	0	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631079	122631079	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:122631079C>G	uc003efz.1	-	19	3140	c.2836G>C	c.(2836-2838)GAG>CAG	p.E946Q	SEMA5B_uc011bju.1_Missense_Mutation_p.E852Q|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E946Q|SEMA5B_uc003efy.1_Intron	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	946	Extracellular (Potential).|TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CAGATGTCCTCACCTGGGGAG	0.632		NA											24	22					0	0	0	0
HEG1	57493	broad.mit.edu	37	3	124732246	124732246	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:124732246G>C	uc003ehs.3	-	6	2245	c.2177C>G	c.(2176-2178)TCT>TGT	p.S726C	HEG1_uc011bke.1_Missense_Mutation_p.S826C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	726	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GGCAGATGTAGATGTCGTTAA	0.502		NA											42	176					0	0	0	0
ZNF148	7707	broad.mit.edu	37	3	124951513	124951513	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:124951513G>C	uc003ehx.3	-	9	2543	c.2057C>G	c.(2056-2058)TCA>TGA	p.S686*	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Nonsense_Mutation_p.S686*|ZNF148_uc010hsa.2_Nonsense_Mutation_p.S686*|ZNF148_uc003eia.3_Nonsense_Mutation_p.S686*|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	686					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						AAAGGGAAATGAGTGCTGTGA	0.448		NA											71	282					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130281985	130281985	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:130281985G>A	uc010htl.2	+	2	169	c.138G>A	c.(136-138)GTG>GTA	p.V46V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	46	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TCCCATTTGTGAAAATGTTCA	0.473		NA											5	343					0	0	0	0
ATP2C1	27032	broad.mit.edu	37	3	130686024	130686024	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:130686024G>C	uc003enl.2	+	15	1380	c.1158G>C	c.(1156-1158)GTG>GTC	p.V386V	ATP2C1_uc011blg.1_Silent_p.V420V|ATP2C1_uc011blh.1_Silent_p.V381V|ATP2C1_uc011bli.1_Silent_p.V420V|ATP2C1_uc003enk.2_Silent_p.V370V|ATP2C1_uc003enm.2_Silent_p.V386V|ATP2C1_uc003enn.2_Silent_p.V370V|ATP2C1_uc003eno.2_Silent_p.V386V|ATP2C1_uc003enp.2_Silent_p.V386V|ATP2C1_uc003enq.2_Silent_p.V386V|ATP2C1_uc003enr.2_Silent_p.V386V|ATP2C1_uc003ens.2_Silent_p.V386V|ATP2C1_uc003ent.2_Silent_p.V386V|ATP2C1_uc003enu.2_Silent_p.V64V	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	386	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTGGGGAAGTGATTGTTGATG	0.358		NA							Hailey-Hailey_disease				99	495					0	0	0	0
CPNE4	131034	broad.mit.edu	37	3	131404721	131404721	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:131404721C>T	uc003eok.2	-	6	1024	c.589G>A	c.(589-591)GAG>AAG	p.E197K	CPNE4_uc011blq.1_Missense_Mutation_p.E215K|CPNE4_uc003eol.2_Missense_Mutation_p.E215K|CPNE4_uc003eom.2_Missense_Mutation_p.E197K	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	197	C2 2.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ACTCTTACCTCAGTTCGGTGC	0.373		NA											15	85					0	0	0	0
ESYT3	83850	broad.mit.edu	37	3	138178802	138178802	+	Missense_Mutation	SNP	C	C	T	rs62282904		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:138178802C>T	uc003esk.2	+	6	890	c.664C>T	c.(664-666)CGG>TGG	p.R222W	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	222						integral to membrane|plasma membrane					0						GGGCACCCTGCGGGTCATCCT	0.632		NA											53	148					0	0	0	0
XRN1	54464	broad.mit.edu	37	3	142151555	142151555	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:142151555C>G	uc003eus.2	-	2	323	c.256G>C	c.(256-258)GAT>CAT	p.D86H	XRN1_uc003eut.2_Missense_Mutation_p.D86H|XRN1_uc003euu.2_Missense_Mutation_p.D86H|XRN1_uc003euw.2_Missense_Mutation_p.D86H|XRN1_uc011bnh.1_5'UTR	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	86					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						GCCACACCATCTACAGCCATA	0.348		NA											25	47					0	0	0	0
PAQR9	344838	broad.mit.edu	37	3	142681653	142681653	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:142681653G>C	uc003evg.2	-	1	526	c.526C>G	c.(526-528)CTG>GTG	p.L176V	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	176	Helical; (Potential).					integral to membrane	receptor activity				0						CCTGGCAACAGGTAGTAGTAG	0.622		NA											4	45					0	0	0	0
PLOD2	5352	broad.mit.edu	37	3	145804659	145804659	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:145804659C>T	uc003evs.1	-	10	1548	c.1042G>A	c.(1042-1044)GAT>AAT	p.D348N	PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.D293N|PLOD2_uc003evr.1_Missense_Mutation_p.D348N	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	348					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TTAGCTTTATCAAAAAATACC	0.284		NA											13	28					0	0	0	0
PLSCR2	57047	broad.mit.edu	37	3	146173093	146173093	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:146173093C>T	uc003evv.1	-	5	587	c.254G>A	c.(253-255)CGA>CAA	p.R85Q	PLSCR2_uc003evw.1_Missense_Mutation_p.R154Q	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	85	Cytoplasmic (By similarity).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity				0						TATGACTTCTCGACCCACATT	0.418		NA											47	242					0	0	0	0
IGSF10	285313	broad.mit.edu	37	3	151155740	151155740	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:151155740C>T	uc011bod.1	-	6	6609	c.6609G>A	c.(6607-6609)GTG>GTA	p.V2203V	IGSF10_uc011bob.1_Silent_p.V230V|IGSF10_uc011boc.1_Silent_p.V182V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2203	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGAGCAGTTTCACTTTGTTGA	0.418		NA											128	215					0	0	0	0
SHOX2	6474	broad.mit.edu	37	3	157820574	157820574	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:157820574C>T	uc003fbr.2	-	2	587	c.448G>A	c.(448-450)GAA>AAA	p.E150K	SHOX2_uc003fbs.2_Missense_Mutation_p.E174K|SHOX2_uc010hvw.2_Missense_Mutation_p.E150K	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	150	Homeobox.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGAGTTGTTCCAGGGTGAAA	0.572		NA											40	236					0	0	0	0
IFT80	57560	broad.mit.edu	37	3	160000298	160000298	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:160000298C>G	uc011boy.1	-	14	1917	c.1484G>C	c.(1483-1485)CGA>CCA	p.R495P	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.R358P|IFT80_uc003fdd.1_Missense_Mutation_p.R178P|IFT80_uc003fde.1_Missense_Mutation_p.R358P	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	495						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCCCAAATCGTTTCACAGA	0.269		NA											8	90					0	0	0	0
ECT2	1894	broad.mit.edu	37	3	172486838	172486838	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:172486838C>G	uc003fii.2	+	12	1378	c.1240C>G	c.(1240-1242)CCA>GCA	p.P414A	ECT2_uc010hwv.1_Missense_Mutation_p.P445A|ECT2_uc003fih.2_Missense_Mutation_p.P413A|ECT2_uc003fij.1_Missense_Mutation_p.P414A|ECT2_uc003fik.1_Missense_Mutation_p.P414A|ECT2_uc003fil.1_Missense_Mutation_p.P445A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	414					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCTCCACTCCAGTTCCTTC	0.348		NA											4	233					0	0	0	0
NLGN1	22871	broad.mit.edu	37	3	173998755	173998755	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:173998755T>C	uc003fio.1	+	7	2557	c.2134T>C	c.(2134-2136)TGC>CGC	p.C712R	NLGN1_uc003fip.1_Missense_Mutation_p.C712R	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	729	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCACAGGAGATGCAGCCCTCA	0.453		NA											83	72					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			27	148					0	0	0	0
GNB4	59345	broad.mit.edu	37	3	179123134	179123134	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179123134C>G	uc003fjv.3	-	9	1040	c.760G>C	c.(760-762)GAC>CAC	p.D254H	GNB4_uc003fju.3_Intron	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	254	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GCACGAAGGTCAAAGAGCCGG	0.418		NA											47	106					0	0	0	0
PEX5L	51555	broad.mit.edu	37	3	179533749	179533749	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179533749C>G	uc003fki.1	-	10	1113	c.983G>C	c.(982-984)GGA>GCA	p.G328A	PEX5L_uc011bqd.1_Missense_Mutation_p.G285A|PEX5L_uc011bqe.1_Missense_Mutation_p.G136A|PEX5L_uc011bqf.1_Missense_Mutation_p.G220A|PEX5L_uc003fkj.1_Missense_Mutation_p.G293A|PEX5L_uc010hxd.1_Missense_Mutation_p.G326A|PEX5L_uc011bqg.1_Missense_Mutation_p.G304A|PEX5L_uc011bqh.1_Missense_Mutation_p.G269A	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	328					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTCAAATGCTCCAGGCCAGTC	0.473		NA											24	213					0	0	0	0
PEX5L	51555	broad.mit.edu	37	3	179597738	179597738	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179597738C>G	uc003fki.1	-	5	614	c.484G>C	c.(484-486)GAG>CAG	p.E162Q	PEX5L_uc011bqd.1_Missense_Mutation_p.E119Q|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Missense_Mutation_p.E127Q|PEX5L_uc010hxd.1_Missense_Mutation_p.E160Q|PEX5L_uc011bqg.1_Missense_Mutation_p.E138Q|PEX5L_uc011bqh.1_Missense_Mutation_p.E103Q	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	162					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GATGAAGTCTCCGGGACTCTG	0.512		NA											30	177					0	0	0	0
HTR3D	200909	broad.mit.edu	37	3	183756393	183756393	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183756393C>T	uc011bqv.1	+	7	1116	c.1116C>T	c.(1114-1116)CTC>CTT	p.L372L	HTR3D_uc003fmj.2_Silent_p.L197L|HTR3D_uc011bqu.1_Silent_p.L322L|HTR3D_uc010hxp.2_Silent_p.L151L	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	372	Cytoplasmic (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCGGGTCTCACCCCCACCC	0.453		NA											5	77					0	0	0	0
HTR3C	170572	broad.mit.edu	37	3	183777329	183777329	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183777329G>A	uc003fmk.2	+	7	860	c.826G>A	c.(826-828)GAG>AAG	p.E276K		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	276	Cytoplasmic (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGCAGAGAGCGAGAATCGTGC	0.547		NA											55	317					0	0	0	0
HTR3C	170572	broad.mit.edu	37	3	183777427	183777427	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183777427C>T	uc003fmk.2	+	7	958	c.924C>T	c.(922-924)ATC>ATT	p.I308I		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	308	Helical; Name=3; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCCCTCATCAGTATGGCTC	0.587		NA											47	353					0	0	0	0
AP2M1	1173	broad.mit.edu	37	3	183896864	183896864	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183896864G>C	uc011bqx.1	+	3	451	c.294G>C	c.(292-294)GAG>GAC	p.E98D	AP2M1_uc003fmw.2_Missense_Mutation_p.E98D|AP2M1_uc003fmx.2_Missense_Mutation_p.E98D|AP2M1_uc003fmy.2_Missense_Mutation_p.E98D|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	98					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATCAGCGAGGAAAACATCA	0.522		NA											47	341					0	0	0	0
PSMD2	5708	broad.mit.edu	37	3	184026289	184026289	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:184026289G>A	uc003fnn.1	+	20	2511	c.2478G>A	c.(2476-2478)CAG>CAA	p.Q826Q	PSMD2_uc011brj.1_Silent_p.Q667Q|PSMD2_uc011brk.1_Silent_p.Q696Q	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	826					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGCCATGCAGCCCCGAATGC	0.537		NA									OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	157	264					0	0	0	0
EIF4G1	1981	broad.mit.edu	37	3	184033995	184033995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:184033995C>T	uc003fnp.2	+	4	334	c.136C>T	c.(136-138)CAG>TAG	p.Q46*	EIF4G1_uc003fno.1_Nonsense_Mutation_p.Q46*|EIF4G1_uc010hxw.1_5'UTR|EIF4G1_uc003fnt.2_Intron|EIF4G1_uc003fnq.2_Intron|EIF4G1_uc003fnr.2_Intron|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.Q46*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.Q6*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.Q46*|EIF4G1_uc010hxz.1_Intron|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.Q46*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.Q46*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.Q46*	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	46					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACGCCTTCTCAGCCCCGCCA	0.617		NA											12	114					0	0	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198141	185198141	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:185198141G>A	uc010hyf.2	+	14	2889	c.2623G>A	c.(2623-2625)GAT>AAT	p.D875N	MAP3K13_uc011brt.1_Missense_Mutation_p.D668N|MAP3K13_uc011bru.1_Missense_Mutation_p.D731N|MAP3K13_uc003fpi.2_Missense_Mutation_p.D875N|MAP3K13_uc010hyg.2_Missense_Mutation_p.D565N	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	875					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGAGTTAGCTGATAAACTTGA	0.483		NA											82	211					0	0	0	0
MAP3K13	9175	broad.mit.edu	37	3	185200197	185200197	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:185200197G>C	uc010hyf.2	+	15	3120	c.2854G>C	c.(2854-2856)GAT>CAT	p.D952H	MAP3K13_uc011brt.1_Missense_Mutation_p.D745H|MAP3K13_uc011bru.1_Missense_Mutation_p.D808H|MAP3K13_uc003fpi.2_Missense_Mutation_p.D952H|MAP3K13_uc010hyg.2_Missense_Mutation_p.D642H	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	952					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAGTGTTCTGATGCCACAGT	0.413		NA											6	582					0	0	0	0
ATP13A4	84239	broad.mit.edu	37	3	193220359	193220359	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:193220359C>T	uc003ftd.2	-	3	412	c.304G>A	c.(304-306)GGT>AGT	p.G102S	ATP13A4_uc003fte.1_Missense_Mutation_p.G102S|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	102	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGAGTGAGACCAAATGCGCTG	0.408		NA											139	88					0	0	0	0
ATP13A3	79572	broad.mit.edu	37	3	194140610	194140610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:194140610G>A	uc003fty.3	-	30	3802	c.3400C>T	c.(3400-3402)CAG>TAG	p.Q1134*	ATP13A3_uc003ftx.3_Nonsense_Mutation_p.Q13*	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	1134					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGTCTTACCTGAAGAACCTGG	0.318		NA											43	168					0	0	0	0
SENP5	205564	broad.mit.edu	37	3	196656542	196656542	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:196656542C>G	uc003fwz.3	+	9	2394	c.2145C>G	c.(2143-2145)GTC>GTG	p.V715V	SENP5_uc011bty.1_Silent_p.V669V	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	715	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		ACTGTGGAGTCTTTGTGCTCC	0.393		NA											42	116					0	0	0	0
KIAA0226	9711	broad.mit.edu	37	3	197420604	197420604	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:197420604C>T	uc003fyc.2	-	11	1951	c.1768G>A	c.(1768-1770)GAT>AAT	p.D590N	KIAA0226_uc003fyd.3_Missense_Mutation_p.D545N|KIAA0226_uc003fye.1_Missense_Mutation_p.D297N|KIAA0226_uc003fyf.2_3'UTR	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	590	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCAAATTCATCAACCTCATCA	0.428		NA											25	108					0	0	0	0
PDE6B	5158	broad.mit.edu	37	4	651154	651154	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:651154C>T	uc003gap.2	+	10	1325	c.1272C>T	c.(1270-1272)TTC>TTT	p.F424F	PDE6B_uc003gao.3_Silent_p.F424F|PDE6B_uc011buy.1_Silent_p.F145F|uc003gaq.1_5'Flank	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	424	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TGACACAGTTCCTGGGCTGGT	0.622		NA											16	26					0	0	0	0
DGKQ	1609	broad.mit.edu	37	4	955487	955487	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:955487G>C	uc003gbw.2	-	20	2525	c.2451C>G	c.(2449-2451)ATC>ATG	p.I817M	DGKQ_uc010ibn.2_Missense_Mutation_p.I804M	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	817					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGGGATGTTGATGAAGATGA	0.652		NA											16	32					0	0	0	0
DGKQ	1609	broad.mit.edu	37	4	955492	955492	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:955492A>G	uc003gbw.2	-	20	2520	c.2446T>C	c.(2446-2448)TTC>CTC	p.F816L	DGKQ_uc010ibn.2_Missense_Mutation_p.F803L	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	816					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGTTGATGAAGATGAGGCCT	0.662		NA											16	34					0	0	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6114560	6114560	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:6114560C>G	uc003giu.3	-	2	294	c.18G>C	c.(16-18)CGG>CGC	p.R6R	JAKMIP1_uc010idb.1_Silent_p.R6R|JAKMIP1_uc010idc.1_Silent_p.R6R|JAKMIP1_uc010idd.1_Silent_p.R6R|JAKMIP1_uc011bwc.1_Silent_p.R6R|JAKMIP1_uc003giv.3_Silent_p.R6R|JAKMIP1_uc010ide.2_Silent_p.R6R	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	6	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						CGCCCTTGCTCCGGCCTTTCT	0.632		NA											24	44					0	0	0	0
DRD5	1816	broad.mit.edu	37	4	9784235	9784235	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:9784235A>G	uc003gmb.3	+	1	978	c.582A>G	c.(580-582)CCA>CCG	p.P194P		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	194	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGACCTGCCAAACAACCTGG	0.607		NA											38	49					0	0	0	0
WDR19	57728	broad.mit.edu	37	4	39233560	39233560	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:39233560C>T	uc003gtv.2	+	18	2280	c.2126C>T	c.(2125-2127)TCC>TTC	p.S709F	WDR19_uc011byi.1_Missense_Mutation_p.S549F|WDR19_uc003gtw.1_Missense_Mutation_p.S306F	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	709					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ATAGTGATGTCCTTGGAACAA	0.348		NA											29	78					0	0	0	0
LRRC66	339977	broad.mit.edu	37	4	52860790	52860790	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:52860790C>T	uc003gzi.2	-	4	2411	c.2398G>A	c.(2398-2400)GAG>AAG	p.E800K		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	800						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GACAGGCCCTCAGATCTATCA	0.473		NA											18	49					0	0	0	0
RASL11B	65997	broad.mit.edu	37	4	53731941	53731941	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:53731941C>A	uc003gzt.2	+	4	896	c.716C>A	c.(715-717)TCT>TAT	p.S239Y		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	239	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)			CAAGCCCTCTCTGCCAAAGTG	0.567		NA											21	62					4.27e-12	4.5e-12	1	0
PDGFRA	5156	broad.mit.edu	37	4	55136804	55136804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:55136804C>T	uc003han.3	+	8	1457	c.1126C>T	c.(1126-1128)CGA>TGA	p.R376*	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Nonsense_Mutation_p.R270*|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	376	Ig-like C2-type 4.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAAAAGGTATCGAAGCAAATT	0.318		NA	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			26	91					0	0	0	0
SRD5A3	79644	broad.mit.edu	37	4	56225583	56225583	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:56225583C>T	uc003hau.2	+	2	387	c.292C>T	c.(292-294)CTG>TTG	p.L98L		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	98	Helical; (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TACTCAATCTCTGTTCCTGGG	0.478		NA											104	289					0	0	0	0
CEP135	9662	broad.mit.edu	37	4	56847543	56847543	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:56847543G>C	uc003hbi.2	+	13	2011	c.1777G>C	c.(1777-1779)GAG>CAG	p.E593Q	CEP135_uc003hbj.2_Missense_Mutation_p.E299Q	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	593	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAAATTAGAGGTAAGAAG	0.284		NA											50	164					0	0	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361538	70361538	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:70361538C>T	uc003hek.3	-	1	89	c.42G>A	c.(40-42)CTG>CTA	p.L14L	UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Silent_p.L14L	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	14					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						AGTAACAGCTCAGCTGTATCA	0.453		NA											83	228					0	0	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512724	70512724	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:70512724G>C	uc003hem.3	-	1	702	c.639C>G	c.(637-639)TTC>TTG	p.F213L	UGT2A1_uc011caq.1_Missense_Mutation_p.F213L|UGT2A1_uc010ihu.2_Missense_Mutation_p.F213L|UGT2A1_uc010iht.2_Missense_Mutation_p.F213L	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	213	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						GGTAGGAGATGAAATTTCTTA	0.368		NA											35	124					0	0	0	0
GC	2638	broad.mit.edu	37	4	72634073	72634073	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:72634073G>C	uc003hge.2	-	3	359	c.206C>G	c.(205-207)TCC>TGC	p.S69C	GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.S69C|GC_uc010iif.2_Missense_Mutation_p.S88C	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	69	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTCGGTCAAGGAGACAACTTC	0.522		NA											15	41					0	0	0	0
FRAS1	80144	broad.mit.edu	37	4	79321968	79321968	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:79321968C>T	uc003hlb.2	+	30	4496	c.4056C>T	c.(4054-4056)ATC>ATT	p.I1352I	FRAS1_uc003hkw.2_Silent_p.I1352I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1351	CSPG 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CCAACAGAATCTTACAGGCCG	0.458		NA											18	47					0	0	0	0
FGF5	2250	broad.mit.edu	37	4	81188026	81188026	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:81188026C>T	uc003hmd.2	+	1	285	c.48C>T	c.(46-48)CTC>CTT	p.L16L	FGF5_uc003hme.2_Silent_p.L16L	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	16					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2						ACCTGATCCTCAGCGCCTGGG	0.612		NA											26	93					0	0	0	0
HPSE	10855	broad.mit.edu	37	4	84234362	84234362	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:84234362C>G	uc003hoj.3	-	4	677	c.578G>C	c.(577-579)AGA>ACA	p.R193T	HPSE_uc010ika.2_Intron|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Intron|HPSE_uc011cct.1_Missense_Mutation_p.R193T|HPSE_uc003hok.3_Missense_Mutation_p.R193T	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	193					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ATCTGCTGTTCTTAATAACGC	0.423		NA											32	58					0	0	0	0
WDFY3	23001	broad.mit.edu	37	4	85617224	85617224	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:85617224G>C	uc003hpd.2	-	58	9208	c.8800C>G	c.(8800-8802)CTT>GTT	p.L2934V	WDFY3_uc003hpe.1_Missense_Mutation_p.L545V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2934	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCATAAAAAAGATGATGGAAG	0.413		NA											49	139					0	0	0	0
WDFY3	23001	broad.mit.edu	37	4	85617288	85617288	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:85617288G>C	uc003hpd.2	-	58	9144	c.8736C>G	c.(8734-8736)GAC>GAG	p.D2912E	WDFY3_uc003hpe.1_Missense_Mutation_p.D523E	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2912	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGAAGATTAAGTCAATCCACT	0.408		NA											51	169					0	0	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916572	86916572	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:86916572G>A	uc003hpk.2	+	9	2214	c.1765G>A	c.(1765-1767)GAG>AAG	p.E589K	ARHGAP24_uc003hpl.2_Missense_Mutation_p.E494K|ARHGAP24_uc010ikf.2_Missense_Mutation_p.E504K|ARHGAP24_uc003hpm.2_Missense_Mutation_p.E496K	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	589					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGGGAACTTTGAGGACCCTGT	0.557		NA											51	130					0	0	0	0
HERC5	51191	broad.mit.edu	37	4	89421102	89421102	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:89421102G>C	uc003hrt.2	+	19	2623	c.2470G>C	c.(2470-2472)GAA>CAA	p.E824Q	HERC5_uc011cdm.1_Missense_Mutation_p.E462Q	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	824	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TCTGGATGATGAAGGTGATAA	0.289		NA											29	103					0	0	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618627	89618627	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:89618627C>G	uc003hrx.2	-	1	397	c.279G>C	c.(277-279)AAG>AAC	p.K93N	HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	93	Potential.				nucleosome assembly	nucleus	protein binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TGGCTTCTATCTTATCGCATC	0.458		NA											68	138					0	0	0	0
ADH5	128	broad.mit.edu	37	4	100006310	100006310	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:100006310C>T	uc003hui.2	-	2	150	c.70G>A	c.(70-72)GAG>AAG	p.E24K	ADH5_uc003huk.1_Missense_Mutation_p.E24K|ADH5_uc003huj.2_5'UTR	NM_000671	NP_000662	P11766	ADHX_HUMAN	class III alcohol dehydrogenase, chi subunit	24					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	ACCTCTATCTCCTCTATGGAG	0.453		NA											10	6					0	0	0	0
CENPE	1062	broad.mit.edu	37	4	104054926	104054926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:104054926G>A	uc003hxb.1	-	41	6736	c.6646C>T	c.(6646-6648)CAA>TAA	p.Q2216*	CENPE_uc003hxc.1_Nonsense_Mutation_p.Q2095*	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2216	Kinetochore-binding domain.|Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAATCTTGTTGAAGGTGCTGT	0.289		NA											13	32					0	0	0	0
ANK2	287	broad.mit.edu	37	4	114280341	114280341	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:114280341G>C	uc003ibe.3	+	38	10667	c.10567G>C	c.(10567-10569)GAG>CAG	p.E3523Q	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.E825Q|ANK2_uc011cgb.1_Missense_Mutation_p.E3538Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3490					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)		GCCACCTGTTGAGACCGAGCA	0.468		NA											56	152					0	0	0	0
PRSS12	8492	broad.mit.edu	37	4	119256647	119256647	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:119256647G>C	uc003ica.1	-	3	848	c.801C>G	c.(799-801)GTC>GTG	p.V267V		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	267	SRCR 1.					membrane	scavenger receptor activity			skin(1)	1						AGCTACACGTGACAGCAGCTG	0.403		NA											32	134					0	0	0	0
PDE5A	8654	broad.mit.edu	37	4	120419875	120419875	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:120419875C>G	uc003idh.2	-	21	2664	c.2509G>C	c.(2509-2511)GAG>CAG	p.E837Q	uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.E795Q|PDE5A_uc003idg.2_Missense_Mutation_p.E785Q	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	837	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAACAGTCCTCTGACACGTGG	0.502		NA											50	138					0	0	0	0
KIAA1109	84162	broad.mit.edu	37	4	123167863	123167863	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:123167863C>T	uc003ieh.2	+	32	5255	c.5210C>T	c.(5209-5211)TCA>TTA	p.S1737L	KIAA1109_uc003iek.2_Missense_Mutation_p.S356L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1737					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TTACAAGCCTCAGTGGAAGAA	0.378		NA											30	124					0	0	0	0
KIAA1109	84162	broad.mit.edu	37	4	123245661	123245661	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:123245661G>A	uc003ieh.2	+	62	10919	c.10874G>A	c.(10873-10875)AGA>AAA	p.R3625K	KIAA1109_uc003iel.1_Missense_Mutation_p.R1560K|KIAA1109_uc003iem.2_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3625					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GCTTCTGGAAGACCACCTCTT	0.378		NA											18	78					0	0	0	0
FAT4	79633	broad.mit.edu	37	4	126329825	126329825	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:126329825C>T	uc003ifj.3	+	4	5796	c.5796C>T	c.(5794-5796)TTC>TTT	p.F1932F	FAT4_uc011cgp.1_Silent_p.F230F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1932	Cadherin 18.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAGTTTATTTCAATATTCTAG	0.348		NA											50	149					0	0	0	0
FAT4	79633	broad.mit.edu	37	4	126411784	126411784	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:126411784G>C	uc003ifj.3	+	17	13807	c.13807G>C	c.(13807-13809)GAA>CAA	p.E4603Q	FAT4_uc011cgp.1_Missense_Mutation_p.E2844Q|FAT4_uc003ifi.1_Missense_Mutation_p.E2080Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4603	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCACAACTCAGAAACCATCCC	0.493		NA											23	74					0	0	0	0
INTU	27152	broad.mit.edu	37	4	128626859	128626859	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:128626859C>G	uc003ifk.1	+	11	1750	c.1680C>G	c.(1678-1680)ATC>ATG	p.I560M	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	560										ovary(1)	1						GTCAGTTGATCATATGGAGAG	0.443		NA											29	319					0	0	0	0
MFSD8	256471	broad.mit.edu	37	4	128863250	128863250	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:128863250G>C	uc003ifp.2	-	6	666	c.503C>G	c.(502-504)TCC>TGC	p.S168C	MFSD8_uc011cgu.1_Missense_Mutation_p.S123C|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_Intron|MFSD8_uc011cgx.1_Missense_Mutation_p.S123C	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	168	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						GTTTGCCATGGAACTTGTTCT	0.353		NA											35	189					0	0	0	0
TTC29	83894	broad.mit.edu	37	4	147741384	147741384	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:147741384C>G	uc003ikw.3	-	10	1221	c.994G>C	c.(994-996)GAA>CAA	p.E332Q	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.E358Q|TTC29_uc010ipd.1_Missense_Mutation_p.E332Q	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	332	TPR 4.						binding				0	all_hematologic(180;0.151)					TTAATTGCTTCTGTCATCTCT	0.353		NA											8	55					0	0	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148944413	148944413	+	Splice_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:148944413G>C	uc003ilf.2	+	19	1717	c.1717_splice	c.e19-1	p.I573_splice	ARHGAP10_uc003ilg.2_Splice_Site_p.I222_splice|ARHGAP10_uc003ilh.2_Splice_Site_p.I154_splice|ARHGAP10_uc003ili.2_Missense_Mutation_p.K5N	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTGTTGGAAGATTTTTCGGA	0.483		NA											3	102					0	0	0	0
LRBA	987	broad.mit.edu	37	4	151186875	151186875	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:151186875C>A	uc010ipj.2	-	58	9065	c.8591G>T	c.(8590-8592)TGA>TTA	p.*2864L	LRBA_uc010ipi.2_Nonstop_Mutation_p.*386L|LRBA_uc003ils.3_Nonstop_Mutation_p.*759L|LRBA_uc003ilt.3_Nonstop_Mutation_p.*1512L|LRBA_uc003ilu.3_Nonstop_Mutation_p.*2852L|LRBA_uc003ilr.3_Nonstop_Mutation_p.*284L	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2864						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CTGTCACCATCAGTAGCGGGT	0.448		NA											13	25					4.38e-07	4.55e-07	1	0
LRBA	987	broad.mit.edu	37	4	151509251	151509251	+	Silent	SNP	G	G	C	rs4613549		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:151509251G>C	uc010ipj.2	-	41	6786	c.6312C>G	c.(6310-6312)CTC>CTG	p.L2104L	LRBA_uc003ilt.3_Silent_p.L752L|LRBA_uc003ilu.3_Silent_p.L2093L	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2104						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CCTCAAAATAGAGTTCGGAGG	0.473		NA											5	289					0	0	0	0
RXFP1	59350	broad.mit.edu	37	4	159568311	159568311	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:159568311G>A	uc003ipz.2	+	16	1796	c.1714G>A	c.(1714-1716)GAA>AAA	p.E572K	RXFP1_uc011cja.1_Missense_Mutation_p.E467K|RXFP1_uc010iqo.2_Missense_Mutation_p.E524K|RXFP1_uc011cjb.1_Missense_Mutation_p.E470K|RXFP1_uc010iqk.2_Missense_Mutation_p.E440K|RXFP1_uc011cjc.1_Missense_Mutation_p.E491K|RXFP1_uc011cjd.1_Missense_Mutation_p.E491K|RXFP1_uc010iql.2_Missense_Mutation_p.E416K|RXFP1_uc011cje.1_Missense_Mutation_p.E599K|RXFP1_uc010iqm.2_Missense_Mutation_p.E539K|RXFP1_uc011cjf.1_Missense_Mutation_p.E441K|RXFP1_uc010iqn.2_Missense_Mutation_p.E517K	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	572	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGAAGATACAGAAAGTATTGG	0.333		NA											30	89					0	0	0	0
HAND2	9464	broad.mit.edu	37	4	174449901	174449901	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:174449901C>T	uc003ith.1	-	1	1478	c.540G>A	c.(538-540)AAG>AAA	p.K180K	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.E146K|HAND2_uc010ire.1_Silent_p.K180K	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	180					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCTTCTTCCTCTTCTCCTCTT	0.602		NA											6	28					0	0	0	0
HAND2	9464	broad.mit.edu	37	4	174449906	174449906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:174449906C>A	uc003ith.1	-	1	1473	c.535G>T	c.(535-537)GAG>TAG	p.E179*	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.G144V|HAND2_uc010ire.1_Nonsense_Mutation_p.E179*	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	179					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCCTCTTCTCCTCTTTCACG	0.612		NA											6	27					0.00116845	0.0011888	1	0
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:228396G>C	uc003jao.3	+	6	833	c.718G>C	c.(718-720)GAG>CAG	p.E240Q	SDHA_uc003jan.2_Missense_Mutation_p.E240Q|SDHA_uc011clv.1_Missense_Mutation_p.E240Q|SDHA_uc011clw.1_Missense_Mutation_p.E192Q|SDHA_uc003jap.3_Missense_Mutation_p.E240Q|SDHA_uc003jaq.3_Missense_Mutation_p.E15Q|SDHA_uc003jar.3_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	240					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418		NA							Familial_Paragangliomas				4	134					0	0	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239639	1239639	+	Silent	SNP	C	C	T	rs137936927	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:1239639C>T	uc003jby.1	+	6	930	c.807C>T	c.(805-807)TTC>TTT	p.F269F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	269	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCTGGCCTTCGGAGGACACA	0.592		NA											6	259					0	0	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461061	5461061	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:5461061G>A	uc003jdm.3	+	13	1836	c.1614G>A	c.(1612-1614)AGG>AGA	p.R538R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	538										ovary(1)|central_nervous_system(1)	2						TTGGCAAAAGGCCATTAAATG	0.448		NA											74	267					0	0	0	0
NSUN2	54888	broad.mit.edu	37	5	6632078	6632078	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:6632078C>G	uc003jdu.2	-	3	332	c.267G>C	c.(265-267)GAG>GAC	p.E89D	NSUN2_uc011cmk.1_Intron|NSUN2_uc003jdv.2_5'UTR|SRD5A1_uc003jdw.2_5'Flank|SRD5A1_uc011cml.1_5'Flank|SRD5A1_uc011cmm.1_5'Flank	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	89						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						AATGGAGAATCTCTTTTGCGT	0.353		NA											58	244					0	0	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044561	9044561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:9044561G>T	uc003jek.2	-	22	3741	c.3029C>A	c.(3028-3030)TCA>TAA	p.S1010*		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	1010	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGGGGCAGGTGAGACGGGGTG	0.527		NA											68	228					4.61e-44	4.99e-44	1	0
PDZD2	23037	broad.mit.edu	37	5	32037440	32037440	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:32037440G>A	uc003jhl.2	+	7	1899	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	PDZD2_uc003jhm.2_Missense_Mutation_p.R504H|PDZD2_uc011cnx.1_Missense_Mutation_p.R330H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	504					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTCAAGAGTCGCCTTTCAGGT	0.547		NA											9	39					0	0	0	0
C5orf23	79614	broad.mit.edu	37	5	32789775	32789775	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:32789775C>T	uc003jhw.1	+	1	831	c.268C>T	c.(268-270)CTT>TTT	p.L90F		NM_024563	NP_078839			hypothetical protein LOC79614												0						CATGTGCCTTCTTTGCCCCAA	0.403		NA											51	195					0	0	0	0
AGXT2	64902	broad.mit.edu	37	5	35010167	35010167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:35010167C>A	uc003jjf.2	-	12	1355	c.1276G>T	c.(1276-1278)GAA>TAA	p.E426*	AGXT2_uc003jje.1_Nonsense_Mutation_p.E79*|AGXT2_uc011com.1_Nonsense_Mutation_p.E351*	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	426					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCAACAATTTCAAATTCATCC	0.428		NA											43	184					8.21e-20	8.76e-20	1	0
CAPSL	133690	broad.mit.edu	37	5	35910094	35910094	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:35910094G>A	uc003jjt.1	-	4	494	c.399C>T	c.(397-399)ATC>ATT	p.I133I	CAPSL_uc003jju.1_Silent_p.I133I	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	133	EF-hand 3.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GAAGGTCTTCGATTGTTATAA	0.383		NA											62	211					0	0	0	0
NUP155	9631	broad.mit.edu	37	5	37302930	37302930	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:37302930G>C	uc003jku.1	-	29	3516	c.3398C>G	c.(3397-3399)TCA>TGA	p.S1133*	NUP155_uc003jkt.1_Nonsense_Mutation_p.S1074*|NUP155_uc010iuz.1_Nonsense_Mutation_p.S1069*	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1133					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCAGCTATTGATGAAATGGC	0.408		NA											51	212					0	0	0	0
C9	735	broad.mit.edu	37	5	39364534	39364534	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:39364534G>C	uc003jlv.3	-	1	122	c.33C>G	c.(31-33)ATC>ATG	p.I11M		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	11					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTAAAATGCAGATTGCAACTG	0.502		NA											26	116					0	0	0	0
NNT	23530	broad.mit.edu	37	5	43659377	43659377	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:43659377C>T	uc003joe.2	+	17	2814	c.2559C>T	c.(2557-2559)CTC>CTT	p.L853L	NNT_uc003jof.2_Silent_p.L853L	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	853	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCTTCCTGCTCAACAACAATC	0.512		NA											34	113					0	0	0	0
HCN1	348980	broad.mit.edu	37	5	45262789	45262789	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:45262789A>T	uc003jok.2	-	8	1932	c.1907T>A	c.(1906-1908)ATC>AAC	p.I636N		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	636	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GATGGGAGCGATTGCCTGCAC	0.478		NA											41	139					0	0	0	0
HCN1	348980	broad.mit.edu	37	5	45396681	45396681	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:45396681G>C	uc003jok.2	-	4	1168	c.1143C>G	c.(1141-1143)GTC>GTG	p.V381V		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	381	Helical; Name=Segment S6; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						AGGTGGCCCCGACGATCATGC	0.507		NA											24	60					0	0	0	0
PARP8	79668	broad.mit.edu	37	5	50073932	50073932	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:50073932T>G	uc003jon.3	+	9	730	c.548T>G	c.(547-549)ATT>AGT	p.I183S	PARP8_uc011cpz.1_Missense_Mutation_p.I75S|PARP8_uc003joo.2_Missense_Mutation_p.I183S|PARP8_uc003jop.2_Missense_Mutation_p.I183S	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	183						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				GATGTAGATATTGATCTGCAT	0.279		NA											18	51					0	0	0	0
ITGA2	3673	broad.mit.edu	37	5	52367846	52367846	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:52367846G>A	uc003joy.2	+	18	2457	c.2314G>A	c.(2314-2316)GAA>AAA	p.E772K	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E696K|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	772	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCCTGCCCTTGAAGCCTATTC	0.468		NA											18	49					0	0	0	0
DHX29	54505	broad.mit.edu	37	5	54569133	54569133	+	Silent	SNP	T	T	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:54569133T>A	uc003jpx.2	-	17	2883	c.2763A>T	c.(2761-2763)CCA>CCT	p.P921P	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	921	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCCTGACTCCTGGAGGGGGAA	0.363		NA											27	70					0	0	0	0
IPO11	51194	broad.mit.edu	37	5	61779927	61779927	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:61779927C>G	uc003jtc.2	+	11	1302	c.1112C>G	c.(1111-1113)TCT>TGT	p.S371C	IPO11_uc011cqr.1_Missense_Mutation_p.S411C|IPO11_uc003jtb.1_Missense_Mutation_p.S371C	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	371						cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGATTAGTCTCTCATTATTTC	0.343		NA											6	159					0	0	0	0
TRIM23	373	broad.mit.edu	37	5	64910040	64910040	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:64910040G>C	uc003jty.2	-	3	337	c.251C>G	c.(250-252)TCA>TGA	p.S84*	TRIM23_uc003jtw.2_Nonsense_Mutation_p.S84*|TRIM23_uc003jtx.2_Nonsense_Mutation_p.S84*	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	84					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CCAGACACCTGAATCACCTAG	0.328		NA											47	101					0	0	0	0
CD180	4064	broad.mit.edu	37	5	66479408	66479408	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:66479408C>G	uc003juy.2	-	3	1411	c.1263G>C	c.(1261-1263)CAG>CAC	p.Q421H		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	421	LRR 14.|Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGAGTTCTAGCTGAGGACATT	0.458		NA											78	221					0	0	0	0
RGNEF	64283	broad.mit.edu	37	5	73205267	73205267	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:73205267G>C	uc011csq.1	+	33	4203	c.4192G>C	c.(4192-4194)GAG>CAG	p.E1398Q	RGNEF_uc003kcx.2_Missense_Mutation_p.E1398Q|RGNEF_uc010izf.2_Missense_Mutation_p.E1398Q|RGNEF_uc011csr.1_Missense_Mutation_p.E1085Q|RGNEF_uc003kcz.3_Missense_Mutation_p.E362Q|RGNEF_uc003kda.3_Missense_Mutation_p.E318Q	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	1398					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CAGCCACATTGAGATCCACAG	0.567		NA											7	28					0	0	0	0
POLK	51426	broad.mit.edu	37	5	74892778	74892778	+	Missense_Mutation	SNP	G	G	A	rs143539365	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:74892778G>A	uc003kdw.2	+	13	2356	c.2260G>A	c.(2260-2262)GAA>AAA	p.E754K	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.E556K|POLK_uc003kec.2_Missense_Mutation_p.E664K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.E664K	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	754					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ATTGGAAAACGAAGATGTTGG	0.368		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					13	204					0	0	0	0
PDE8B	8622	broad.mit.edu	37	5	76700610	76700610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:76700610C>T	uc003kfa.2	+	12	1321	c.1276C>T	c.(1276-1278)CGA>TGA	p.R426*	PDE8B_uc003kfb.2_Nonsense_Mutation_p.R406*|PDE8B_uc003kfc.2_Nonsense_Mutation_p.R426*|PDE8B_uc003kfd.2_Nonsense_Mutation_p.R379*|PDE8B_uc003kfe.2_Nonsense_Mutation_p.R329*	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	426					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GATATCATCTCGAGGCAGTGA	0.353		NA											18	76					0	0	0	0
CMYA5	202333	broad.mit.edu	37	5	79034791	79034791	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:79034791C>T	uc003kgc.2	+	2	10275	c.10203C>T	c.(10201-10203)ATC>ATT	p.I3401I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3401						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTAAAATCCTGGTCCCAC	0.453		NA											30	101					0	0	0	0
THBS4	7060	broad.mit.edu	37	5	79366996	79366996	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:79366996T>A	uc003kgh.2	+	14	2036	c.1713T>A	c.(1711-1713)GAT>GAA	p.D571E	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	571	TSP type-3 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATGACATGGATGGAGATGGTA	0.423		NA											62	223					0	0	0	0
RASA1	5921	broad.mit.edu	37	5	86564372	86564372	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:86564372G>T	uc003kiw.2	+	1	222	c.104G>T	c.(103-105)CGG>CTG	p.R35L	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_Missense_Mutation_p.R35L	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	35					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCAGTGTGTCGGGTGAAGATA	0.721		NA											4	2					5.94e-07	6.16e-07	1	0
GPR98	84059	broad.mit.edu	37	5	89981767	89981767	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:89981767G>C	uc003kju.2	+	29	6541	c.6445G>C	c.(6445-6447)GAT>CAT	p.D2149H	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2149	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCATTTGCAGATGTCTCTGT	0.428		NA											6	29					0	0	0	0
FAM81B	153643	broad.mit.edu	37	5	94784011	94784011	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:94784011G>C	uc003kla.1	+	9	1114	c.1068G>C	c.(1066-1068)CAG>CAC	p.Q356H	FAM81B_uc010jbe.1_Missense_Mutation_p.Q152H	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	356	Potential.									ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AACTGCTGCAGCTTTCAAGCA	0.313		NA											9	52					0	0	0	0
ERAP2	64167	broad.mit.edu	37	5	96219594	96219594	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:96219594G>A	uc003kmq.2	+	3	1384	c.674G>A	c.(673-675)CGA>CAA	p.R225Q	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.R225Q|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.R219Q|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	225	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATCAAGATACGAAGAGAGAGC	0.418		NA											20	84					0	0	0	0
MAN2A1	4124	broad.mit.edu	37	5	109181672	109181672	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:109181672C>G	uc003kou.1	+	18	3770	c.2807C>G	c.(2806-2808)TCT>TGT	p.S936C		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	936	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACACTGCTCTCTGCTCAGTCA	0.413		NA											8	299					0	0	0	0
STARD4	134429	broad.mit.edu	37	5	110836745	110836745	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:110836745C>G	uc003kph.1	-	5	436	c.352G>C	c.(352-354)GAT>CAT	p.D118H	STARD4_uc010jbw.1_Missense_Mutation_p.D20H|STARD4_uc010jbx.1_Missense_Mutation_p.D20H|STARD4_uc003kpi.1_Intron|STARD4_uc003kpj.2_Missense_Mutation_p.D118H	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain	118	START.				lipid transport		lipid binding			ovary(1)	1		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAGGAGAAATCAACAAATTCT	0.338		NA											56	224					0	0	0	0
APC	324	broad.mit.edu	37	5	112177508	112177508	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:112177508G>A	uc010jby.2	+	16	6597	c.6217G>A	c.(6217-6219)GGT>AGT	p.G2073S	APC_uc011cvt.1_Missense_Mutation_p.G2055S|APC_uc003kpz.3_Missense_Mutation_p.G2073S|APC_uc003kpy.3_Missense_Mutation_p.G2073S|APC_uc010jbz.2_Missense_Mutation_p.G1790S|APC_uc010jca.2_Missense_Mutation_p.G1373S	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2073	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGCATATTAGGTGAAGATCT	0.383		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			49	114					0	0	0	0
APC	324	broad.mit.edu	37	5	112179224	112179224	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:112179224T>C	uc010jby.2	+	16	8313	c.7933T>C	c.(7933-7935)TAT>CAT	p.Y2645H	APC_uc011cvt.1_Missense_Mutation_p.Y2627H|APC_uc003kpz.3_Missense_Mutation_p.Y2645H|APC_uc003kpy.3_Missense_Mutation_p.Y2645H|APC_uc010jbz.2_Missense_Mutation_p.Y2362H|APC_uc010jca.2_Missense_Mutation_p.Y1945H	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2645	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GACTCTAATTTATCAAATGGC	0.388		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			92	165					0	0	0	0
AQPEP	206338	broad.mit.edu	37	5	115361749	115361749	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:115361749G>A	uc003kro.2	+	20	3071	c.2907G>A	c.(2905-2907)AAG>AAA	p.K969K	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	969	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						AGACAATAAAGAATGAAAATC	0.433		NA											4	91					0	0	0	0
DTWD2	285605	broad.mit.edu	37	5	118176651	118176651	+	Silent	SNP	G	G	C	rs138333410		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:118176651G>C	uc003ksa.2	-	6	892	c.858C>G	c.(856-858)CTC>CTG	p.L286L		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	286											0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CCATTTTCCTGAGTTTGCGTT	0.348		NA											8	65					0	0	0	0
PRR16	51334	broad.mit.edu	37	5	120021840	120021840	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:120021840G>A	uc003ksq.2	+	2	514	c.351G>A	c.(349-351)CTG>CTA	p.L117L	PRR16_uc003ksp.2_Silent_p.L94L|PRR16_uc003ksr.2_Silent_p.L47L	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	117	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCACGGTCCTGAGAAAGCCAA	0.522		NA											45	91					0	0	0	0
ZNF608	57507	broad.mit.edu	37	5	123983566	123983566	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:123983566C>A	uc003ktq.1	-	4	2634	c.2511G>T	c.(2509-2511)GGG>GGT	p.G837G	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.G837G|ZNF608_uc003ktt.1_Silent_p.G837G	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	837						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTCTAGTTTCCCCAGCTTGG	0.463		NA											91	263					8.04e-26	8.62e-26	1	0
ALDH7A1	501	broad.mit.edu	37	5	125928409	125928409	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:125928409C>G	uc003ktx.2	-	3	451	c.259G>C	c.(259-261)GAC>CAC	p.D87H	ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.D114H|ALDH7A1_uc003ktz.2_Missense_Mutation_p.D114H	NM_001182	NP_001173	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	87					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TCTTCATAGTCTGCCACACTG	0.368		NA											10	41					0	0	0	0
PHAX	51808	broad.mit.edu	37	5	125939416	125939416	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:125939416G>C	uc003kua.1	+	2	273	c.251G>C	c.(250-252)CGA>CCA	p.R84P		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	84	Necessary for interaction with CBP80 (By similarity).|Nuclear localization signal (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0						AAACGCAAACGACAGAAATGT	0.418		NA											18	116					0	0	0	0
CATSPER3	347732	broad.mit.edu	37	5	134344589	134344589	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:134344589G>T	uc003lag.2	+	5	802	c.734G>T	c.(733-735)CGG>CTG	p.R245L		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	245	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTTTGAGCCGGGCATTCACC	0.532		NA											32	92					3.8e-20	4.07e-20	1	0
FAM13B	51306	broad.mit.edu	37	5	137275949	137275949	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:137275949G>C	uc003lbz.2	-	23	3247	c.2713C>G	c.(2713-2715)CTT>GTT	p.L905V	FAM13B_uc003lcb.2_Missense_Mutation_p.L781V|FAM13B_uc003lca.2_Missense_Mutation_p.L877V|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.2_3'UTR|PKD2L2_uc003lby.2_Intron|PKD2L2_uc011cyi.1_3'UTR	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	905					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TTGCTTATAAGAACTTCAAGA	0.373		NA											28	67					0	0	0	0
NDUFA2	4695	broad.mit.edu	37	5	140026901	140026901	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140026901C>T	uc003lgp.2	-	2	220	c.148G>A	c.(148-150)GAC>AAC	p.D50N	IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank	NM_002488	NP_002479	O43678	NDUA2_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	50			D -> N (in a breast cancer sample; somatic mutation).		mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.D50N(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		NADH(DB00157)	ATGGGTAGGTCGGGATTCGCC	0.662		NA											6	81					0	0	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348753	140348753	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140348753C>G	uc003lii.2	+	1	2642	c.2402C>G	c.(2401-2403)TCA>TGA	p.S801*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Nonsense_Mutation_p.S801*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	801	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGGCTCAGGGAGTGAC	0.552		NA											16	109					0	0	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474836	140474836	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140474836C>G	uc003lil.2	+	1	600	c.462C>G	c.(460-462)TTC>TTG	p.F154L	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	154	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACTACTTTCTTAATAGAAC	0.393		NA											12	58					0	0	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481673	140481673	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140481673A>G	uc003lio.2	+	1	1440	c.1440A>G	c.(1438-1440)TCA>TCG	p.S480S	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	480	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647		NA											44	128					0	0	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604130	140604130	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140604130G>A	uc003ljb.2	+	1	1053	c.1053G>A	c.(1051-1053)TCG>TCA	p.S351S	PCDHB14_uc011dal.1_Silent_p.S198S	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	351	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATATCGTCGATTACAAAGA	0.428		NA											37	82					0	0	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720878	140720878	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140720878C>T	uc003ljk.1	+	1	2525	c.2340C>T	c.(2338-2340)ATC>ATT	p.I780I	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.I780I|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	780	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGCTCATCAGCCAGGAGA	0.498		NA											47	133					0	0	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140732048	140732048	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140732048G>A	uc003ljo.1	+	1	2221	c.2221G>A	c.(2221-2223)GAG>AAG	p.E741K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.E741K|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	741	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCACAGCGAGGGGACTTT	0.562		NA											27	129					0	0	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755614	140755614	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140755614C>T	uc003ljy.1	+	1	1964	c.1964C>T	c.(1963-1965)TCC>TTC	p.S655F	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_uc011dau.1_Missense_Mutation_p.S655F	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	655	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCTCTCTCCGCCACTGTC	0.706		NA											8	40					0	0	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768392	140768392	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140768392C>A	uc003lkc.1	+	1	941	c.941C>A	c.(940-942)TCC>TAC	p.S314Y	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_uc011dav.1_Missense_Mutation_p.S314Y	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	314	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAATATTCCATAGTTTTG	0.408		NA											38	35					5.04e-16	5.36e-16	1	0
YIPF5	81555	broad.mit.edu	37	5	143544999	143544999	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:143544999C>T	uc003lnk.3	-	3	721	c.280G>A	c.(280-282)GAA>AAA	p.E94K	YIPF5_uc003lnl.3_Missense_Mutation_p.E94K|YIPF5_uc010jgl.2_Missense_Mutation_p.E40K	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	94	Cytoplasmic (Potential).|Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				ovary(1)|skin(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCTTACCTTCTAATAAAGGT	0.378		NA											18	105					0	0	0	0
TNIP1	10318	broad.mit.edu	37	5	150415257	150415257	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:150415257G>A	uc003ltf.2	-	14	1996	c.1407C>T	c.(1405-1407)TTC>TTT	p.F469F	TNIP1_uc011dcn.1_5'UTR|TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Silent_p.F469F|TNIP1_uc010jhn.2_Silent_p.F469F|TNIP1_uc011dco.1_Silent_p.F469F|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Silent_p.F469F|TNIP1_uc003ltg.2_Silent_p.F416F|TNIP1_uc003ltj.2_Silent_p.F469F|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Silent_p.F416F|TNIP1_uc010jhp.1_Silent_p.F416F|TNIP1_uc010jhr.1_Silent_p.F469F|TNIP1_uc003ltk.2_Silent_p.F469F	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	469	Potential.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCTCCTCGAAGATCTTCA	0.597		NA											4	132					0	0	0	0
SLC36A3	285641	broad.mit.edu	37	5	150664219	150664219	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:150664219C>T	uc003ltw.2	-	7	1181	c.762G>A	c.(760-762)TTG>TTA	p.L254L	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.L239L|SLC36A3_uc003ltx.2_Silent_p.L295L	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	254	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGAACAGCAAGAAGGTCT	0.493		NA											30	109					0	0	0	0
GALNT10	55568	broad.mit.edu	37	5	153755896	153755896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:153755896C>T	uc003lvh.2	+	5	760	c.628C>T	c.(628-630)CGA>TGA	p.R210*	GALNT10_uc003lvg.1_Nonsense_Mutation_p.R210*|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	210	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGGATTCTTCGAACCAAGAA	0.502		NA											60	179					0	0	0	0
SAP30L	79685	broad.mit.edu	37	5	153835558	153835558	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:153835558G>C	uc003lvk.2	+	4	1170	c.522G>C	c.(520-522)CAG>CAC	p.Q174H	SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Missense_Mutation_p.Q133H|SAP30L_uc011ddd.1_Missense_Mutation_p.Q128H	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	SAP30-like isoform 1	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GACTGGACCAGAAATCGGAGG	0.438		NA											37	163					0	0	0	0
TIMD4	91937	broad.mit.edu	37	5	156381666	156381666	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:156381666A>T	uc003lwh.2	-	2	217	c.160T>A	c.(160-162)TGG>AGG	p.W54R	TIMD4_uc010jii.2_Missense_Mutation_p.W54R	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	54	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTTCCCCCAGCACATGCTG	0.527		NA											35	85					0	0	0	0
SOX30	11063	broad.mit.edu	37	5	157078561	157078561	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:157078561C>G	uc003lxb.1	-	1	868	c.526G>C	c.(526-528)GGC>CGC	p.G176R	SOX30_uc003lxc.1_Missense_Mutation_p.G176R|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	176					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGAAGTAGCCGAGGGCCGGC	0.677		NA											55	93					0	0	0	0
ODZ2	57451	broad.mit.edu	37	5	167627019	167627019	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:167627019G>T	uc010jjd.2	+	17	3286	c.3286G>T	c.(3286-3288)GTC>TTC	p.V1096F	ODZ2_uc003lzr.3_Missense_Mutation_p.V873F|ODZ2_uc003lzt.3_Missense_Mutation_p.V469F|ODZ2_uc010jje.2_Missense_Mutation_p.V367F	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GATGGTGGCTGTCGAGGGGCA	0.537		NA											18	64					1.03e-11	1.08e-11	1	0
WWC1	23286	broad.mit.edu	37	5	167812224	167812224	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:167812224C>G	uc003lzu.2	+	3	331	c.238C>G	c.(238-240)CAG>GAG	p.Q80E	WWC1_uc003lzv.2_Missense_Mutation_p.Q80E|WWC1_uc011den.1_Missense_Mutation_p.Q80E	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	80	WW 2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGAAACCACTCAGATTGAGGA	0.507		NA											19	40					0	0	0	0
CCDC99	54908	broad.mit.edu	37	5	169020507	169020507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:169020507G>C	uc003mae.3	+	4	765	c.486G>C	c.(484-486)GAG>GAC	p.E162D	CCDC99_uc010jjj.2_Missense_Mutation_p.E91D|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_5'UTR	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	162	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTTCAGAGATGCTGGCTC	0.413		NA											26	108					0	0	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178771042	178771042	+	Missense_Mutation	SNP	C	C	T	rs150047440		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:178771042C>T	uc003mjw.2	-	2	260	c.260G>A	c.(259-261)CGC>CAC	p.R87H	ADAMTS2_uc011dgm.1_Missense_Mutation_p.R87H	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	87					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGCGGCCCTGCGGGCTCGTAC	0.697		NA											18	39					0	0	0	0
MAPK9	5601	broad.mit.edu	37	5	179696288	179696288	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:179696288G>A	uc003mls.3	-	3	515	c.244C>T	c.(244-246)CAT>TAT	p.H82Y	MAPK9_uc003mlt.3_Missense_Mutation_p.H82Y|MAPK9_uc010jlc.2_Missense_Mutation_p.H82Y|MAPK9_uc003mlv.3_Missense_Mutation_p.H82Y|MAPK9_uc011dgx.1_Missense_Mutation_p.H82Y	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	82	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATTTTTATGATTGACACAT	0.363		NA											6	124					0	0	0	0
BTNL8	79908	broad.mit.edu	37	5	180338384	180338384	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:180338384G>C	uc003mmp.2	+	3	677	c.443G>C	c.(442-444)AGA>ACA	p.R148T	BTNL8_uc003mmq.2_Missense_Mutation_p.R148T|BTNL8_uc011dhg.1_Missense_Mutation_p.R23T|BTNL8_uc010jll.2_Missense_Mutation_p.R148T|BTNL8_uc010jlm.2_Missense_Mutation_p.R32T|BTNL8_uc011dhh.1_5'UTR	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	148	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATGTTGATAGAGACATCCAG	0.537		NA											144	412					0	0	0	0
BTNL8	79908	broad.mit.edu	37	5	180377003	180377003	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:180377003C>G	uc003mmp.2	+	8	1196	c.962C>G	c.(961-963)TCT>TGT	p.S321C	BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.S196C|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.S205C|BTNL8_uc011dhh.1_Missense_Mutation_p.S137C	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	321	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCCTCACTCTGAGAAGAGA	0.517		NA											35	92					0	0	0	0
JARID2	3720	broad.mit.edu	37	6	15496939	15496939	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:15496939G>C	uc003nbj.2	+	7	1727	c.1483G>C	c.(1483-1485)GAG>CAG	p.E495Q	JARID2_uc011diu.1_Missense_Mutation_p.E359Q|JARID2_uc011div.1_Missense_Mutation_p.E323Q|JARID2_uc011diw.1_Missense_Mutation_p.E457Q	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	495					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCGCAGTCTGGAGAGGAATCG	0.662		NA											26	26					0	0	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124521	26124521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:26124521C>T	uc003ngm.2	+	1	149	c.61C>T	c.(61-63)CGC>TGC	p.R21C	HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.R21C	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	21					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CCGCTCTTCTCGCGCTGGTCT	0.612		NA											29	20					0	0	0	0
BTN2A2	10385	broad.mit.edu	37	6	26385375	26385375	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:26385375C>T	uc003nhq.2	+	3	313	c.227C>T	c.(226-228)TCC>TTC	p.S76F	BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Missense_Mutation_p.S76F|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.S76F|BTN2A2_uc003nht.2_Missense_Mutation_p.S76F	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	76	Extracellular (Potential).|Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						TCTCAGTTCTCCCCCGCAGTG	0.527		NA											31	40					0	0	0	0
ZSCAN16	80345	broad.mit.edu	37	6	28097416	28097416	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28097416C>T	uc003nkm.2	+	4	835	c.735C>T	c.(733-735)TTC>TTT	p.F245F	uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	245	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						GGAAAAGTTTCAGTCATAGCT	0.418		NA											44	52					0	0	0	0
ZNF323	64288	broad.mit.edu	37	6	28297298	28297298	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28297298C>T	uc003nla.2	-	2	563	c.163G>A	c.(163-165)GAA>AAA	p.E55K	ZNF323_uc003nld.2_Missense_Mutation_p.E55K|ZNF323_uc010jra.2_Missense_Mutation_p.E55K|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Missense_Mutation_p.E55K	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CTCAGAGCTTCTCGGGGACCA	0.522		NA											126	195					0	0	0	0
SCAND3	114821	broad.mit.edu	37	6	28541483	28541483	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28541483C>G	uc003nlo.2	-	4	2801	c.2183G>C	c.(2182-2184)AGA>ACA	p.R728T		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	728					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						agcatgaactcttttggtttt	0		NA											28	30					0	0	0	0
OR2J3	442186	broad.mit.edu	37	6	29080281	29080281	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:29080281C>G	uc011dll.1	+	1	614	c.614C>G	c.(613-615)ACA>AGA	p.T205R		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCATGATCACAAGCTCCATA	0.468		NA											60	38					0	0	0	0
HLA-B	3106	broad.mit.edu	37	6	31324214	31324214	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31324214G>C	uc003nth.2	-	3	403	c.349C>G	c.(349-351)CAC>GAC	p.H117D	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_5'UTR|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Missense_Mutation_p.H89D	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	117	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						TGGAGGGTGTGAGACCCTGGC	0.697		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				7	17					0	0	0	0
HSPA1B	3304	broad.mit.edu	37	6	31797593	31797593	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31797593C>T	uc003nxk.2	+	1	2082	c.1866C>T	c.(1864-1866)TTC>TTT	p.F622F		NM_005346	NP_005337	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	622					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			breast(1)	1						CTGGCGGCTTCGGGGCTCAGG	0.587		NA											94	89					0	0	0	0
SKIV2L	6499	broad.mit.edu	37	6	31933627	31933627	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31933627C>G	uc003nyn.1	+	18	2428	c.2039C>G	c.(2038-2040)TCC>TGC	p.S680C	SKIV2L_uc011dou.1_Missense_Mutation_p.S522C|SKIV2L_uc011dov.1_Missense_Mutation_p.S487C	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	680	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						GTGTTTGACTCCATGCGCAAA	0.587		NA											58	50					0	0	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975985	32975985	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:32975985C>G	uc003ocr.2	-	2	212	c.136G>C	c.(136-138)GGC>CGC	p.G46R	HLA-DOA_uc010juj.2_Missense_Mutation_p.G16R|HLA-DOA_uc010jui.2_Missense_Mutation_p.G46R	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	46	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						GTGAACTGGCCCGAGGCGCCG	0.547		NA											38	30					0	0	0	0
COL11A2	1302	broad.mit.edu	37	6	33135224	33135224	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33135224C>G	uc003ocx.1	-	56	4329	c.4101G>C	c.(4099-4101)CTG>CTC	p.L1367L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.L1281L|COL11A2_uc003ocz.1_Silent_p.L1260L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1367	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						GGAGCCCCCTCAGACCATCAG	0.667		NA											30	32					0	0	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245746	33245746	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33245746G>C	uc003odr.2	+	1	830	c.550G>C	c.(550-552)GAA>CAA	p.E184Q		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	184	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						CAACGTCCCTGAACTGGTATC	0.587		NA											93	82					0	0	0	0
ITPR3	3710	broad.mit.edu	37	6	33662853	33662853	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33662853C>G	uc011drk.1	+	57	8157	c.7938C>G	c.(7936-7938)CTC>CTG	p.L2646L	C6orf125_uc003oez.1_RNA	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2646	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TCAACGAGCTCAAGGAGCAGG	0.612		NA											19	31					0	0	0	0
GRM4	2914	broad.mit.edu	37	6	33995958	33995958	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33995958C>T	uc003oir.3	-	9	2798	c.2628G>A	c.(2626-2628)AAG>AAA	p.K876K	GRM4_uc011dsn.1_Silent_p.K829K|GRM4_uc010jvh.2_Silent_p.K876K|GRM4_uc010jvi.2_Silent_p.K568K|GRM4_uc003oio.2_Silent_p.K568K|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.K736K|GRM4_uc003oiq.2_Silent_p.K743K|GRM4_uc011dsm.1_Silent_p.K707K	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	876	Cytoplasmic (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GGAAGTTGCCCTTCTGCGTGA	0.637		NA											31	27					0	0	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499414	34499414	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:34499414G>A	uc003ojo.2	+	9	1281	c.1075G>A	c.(1075-1077)GAG>AAG	p.E359K	PACSIN1_uc003ojp.2_Missense_Mutation_p.E359K	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	359					endocytosis		protein kinase activity				0						CTACGCCACCGAGTGGTCAGA	0.647		NA											5	187					0	0	0	0
KIF6	221458	broad.mit.edu	37	6	39554121	39554121	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:39554121C>G	uc003oot.2	-	8	1001	c.906G>C	c.(904-906)ATG>ATC	p.M302I	KIF6_uc010jxa.1_Missense_Mutation_p.M93I|KIF6_uc011dua.1_Missense_Mutation_p.M302I|KIF6_uc010jxb.1_Missense_Mutation_p.M302I	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	302					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						GGACACTGGTCATCATGGAGT	0.413		NA											4	194					0	0	0	0
USP49	25862	broad.mit.edu	37	6	41767599	41767599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:41767599G>A	uc003ori.2	-	6	1861	c.1639C>T	c.(1639-1641)CAG>TAG	p.Q547*		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	547					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGAGAACCTGAGGTAGTCTG	0.488		NA											6	425					0	0	0	0
UBR2	23304	broad.mit.edu	37	6	42626426	42626426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:42626426G>C	uc011dur.1	+	29	3106	c.3106G>C	c.(3106-3108)GAG>CAG	p.E1036Q	UBR2_uc011dus.1_Missense_Mutation_p.E681Q|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1036	Potential.				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGAAAAGCAGAGATTGCCAG	0.388		NA											37	83					0	0	0	0
UBR2	23304	broad.mit.edu	37	6	42626464	42626464	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:42626464G>C	uc011dur.1	+	29	3144	c.3144G>C	c.(3142-3144)CAG>CAC	p.Q1048H	UBR2_uc011dus.1_Missense_Mutation_p.Q693H|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1048	Potential.				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCATGGCTCAGATGTCTGAAA	0.423		NA											61	102					0	0	0	0
CUL7	9820	broad.mit.edu	37	6	43015985	43015985	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:43015985C>T	uc003otq.2	-	9	2373	c.2070G>A	c.(2068-2070)CTG>CTA	p.L690L	CUL7_uc010jyg.2_5'Flank|CUL7_uc011dvb.1_Silent_p.L774L|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	690					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGCTGCTTCAGGATTCTGG	0.617		NA											47	187					0	0	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266316	43266316	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:43266316G>T	uc003out.2	+	1	319	c.220G>T	c.(220-222)GAT>TAT	p.D74Y	SLC22A7_uc010jyl.1_Missense_Mutation_p.D74Y|SLC22A7_uc003ous.2_Missense_Mutation_p.D74Y	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	74						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCGGGAGCCTGATGGCACGCT	0.662		NA											34	64					1.27e-14	1.34e-14	1	0
SPATS1	221409	broad.mit.edu	37	6	44329585	44329585	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:44329585G>A	uc003oxk.2	+	4	777	c.430G>A	c.(430-432)GAG>AAG	p.E144K	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Missense_Mutation_p.E29K	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	144										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCATCGTCCTGAGTGGACATT	0.473		NA											43	175					0	0	0	0
TDRD6	221400	broad.mit.edu	37	6	46657053	46657053	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:46657053G>A	uc003oyj.2	+	1	1188	c.1188G>A	c.(1186-1188)CTG>CTA	p.L396L	TDRD6_uc010jze.2_Silent_p.L390L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	396					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TCGGTGACCTGAAGACACTGA	0.478		NA											66	107					0	0	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807940	50807940	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:50807940G>C	uc003pag.2	+	6	1178	c.1012G>C	c.(1012-1014)GAG>CAG	p.E338Q		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	338					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					AGCCGTCTCTGAGTATTTGAA	0.478		NA											98	174					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51938280	51938280	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:51938280C>T	uc003pah.1	-	7	784	c.508G>A	c.(508-510)GAT>AAT	p.D170N	PKHD1_uc003pai.2_Missense_Mutation_p.D170N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	170	IPT/TIG 2.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TACTCAGCATCAAAATCAAAA	0.358		NA											83	144					0	0	0	0
MCM3	4172	broad.mit.edu	37	6	52133882	52133882	+	Splice_Site	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:52133882A>G	uc003pan.1	-	13	2078	c.1968_splice	c.e13+1	p.K656_splice	MCM3_uc011dwu.1_Splice_Site_p.K610_splice	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					CTGAATCCTCACCTTCTTAAA	0.532		NA											62	140					0	0	0	0
BMP5	653	broad.mit.edu	37	6	55638959	55638959	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:55638959G>C	uc003pcq.2	-	4	1627	c.915C>G	c.(913-915)TTC>TTG	p.F305L	BMP5_uc011dxf.1_Missense_Mutation_p.F305L	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	305					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTCGCCTTGAAGAAGGCCA	0.453		NA											126	221					0	0	0	0
COL12A1	1303	broad.mit.edu	37	6	75833986	75833986	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:75833986G>C	uc003phs.2	-	41	6875	c.6709C>G	c.(6709-6711)CTA>GTA	p.L2237V	COL12A1_uc003pht.2_Missense_Mutation_p.L1073V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2237	Fibronectin type-III 18.				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						GCAGGGCTTAGTTTTAGCCTG	0.378		NA											4	116					0	0	0	0
LCA5	167691	broad.mit.edu	37	6	80196747	80196747	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:80196747C>T	uc003pix.2	-	8	2503	c.2068G>A	c.(2068-2070)GAA>AAA	p.E690K	LCA5_uc003piy.2_Missense_Mutation_p.E690K	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	690					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCTTCAATTTCATCTTCTACA	0.303		NA											53	59					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848789	83848789	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:83848789G>C	uc003pjs.1	+	21	5288	c.5028G>C	c.(5026-5028)CAG>CAC	p.Q1676H	DOPEY1_uc011dyy.1_Missense_Mutation_p.Q1667H|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q1667H|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1676					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGTTCTGCAGAGAGTGGTTG	0.403		NA											3	124					0	0	0	0
GPR63	81491	broad.mit.edu	37	6	97246864	97246864	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:97246864G>C	uc010kcl.2	-	3	1222	c.744C>G	c.(742-744)CTC>CTG	p.L248L	GPR63_uc003pou.2_Silent_p.L248L	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	248	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGAAAGAAATGAGAGAAATCA	0.473		NA											72	81					0	0	0	0
POU3F2	5454	broad.mit.edu	37	6	99282855	99282855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:99282855G>T	uc003ppe.2	+	1	276	c.106G>T	c.(106-108)GAA>TAA	p.E36*		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	36					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGGCTACCGCGAAGCGCAGAG	0.682		NA											7	24					4.93e-13	5.21e-13	1	0
LAMA4	3910	broad.mit.edu	37	6	112508744	112508744	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:112508744C>T	uc003pvu.2	-	8	1183	c.874G>A	c.(874-876)GAG>AAG	p.E292K	LAMA4_uc003pvv.2_Missense_Mutation_p.E285K|LAMA4_uc003pvt.2_Missense_Mutation_p.E285K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	292	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGCCTTCCTCGATGGAGAGC	0.537		NA											10	35					0	0	0	0
COL10A1	1300	broad.mit.edu	37	6	116442593	116442593	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:116442593C>G	uc003pwm.2	-	3	782	c.686G>C	c.(685-687)GGA>GCA	p.G229A	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	229	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GCCTGGCTGTCCTGGAACCCC	0.607		NA											24	111					0	0	0	0
RFX6	222546	broad.mit.edu	37	6	117232167	117232167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:117232167C>T	uc003pxm.2	+	7	805	c.742C>T	c.(742-744)CAA>TAA	p.Q248*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	248					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						CCCCAGCGCTCAACACCTTGT	0.363		NA											40	169					0	0	0	0
FAM184A	79632	broad.mit.edu	37	6	119345573	119345573	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:119345573C>G	uc003pyj.2	-	2	913	c.565G>C	c.(565-567)GAC>CAC	p.D189H	FAM184A_uc003pyk.3_Missense_Mutation_p.D69H|FAM184A_uc003pyl.3_Missense_Mutation_p.D69H	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	189	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						GCTTGCAAGTCTTCCAATGCC	0.418		NA											46	198					0	0	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123126144	123126144	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:123126144G>C	uc003pzg.2	+	6	1350	c.829G>C	c.(829-831)GAT>CAT	p.D277H	SMPDL3A_uc003pzh.2_Missense_Mutation_p.D146H	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	acid sphingomyelinase-like phosphodiesterase 3A	277					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity				0				GBM - Glioblastoma multiforme(226;0.236)		GAAATTGATAGATATTTTTCA	0.348		NA											7	227					0	0	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129959708	129959708	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:129959708C>G	uc003qbr.2	-	3	472	c.383G>C	c.(382-384)GGA>GCA	p.G128A	ARHGAP18_uc011ebw.1_Missense_Mutation_p.G128A	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	128					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)		CTGTGGATCTCCAGCAGACTC	0.473		NA											48	102					0	0	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130425591	130425591	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:130425591C>G	uc003qbt.2	+	19	1927	c.1757C>G	c.(1756-1758)TCA>TGA	p.S586*	L3MBTL3_uc003qbu.2_Nonsense_Mutation_p.S561*	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	586					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGTCCCTATTCAGAAATCAAT	0.368		NA											78	158					0	0	0	0
MED23	9439	broad.mit.edu	37	6	131931197	131931197	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:131931197G>A	uc003qcs.1	-	11	1240	c.1066C>T	c.(1066-1068)CTT>TTT	p.L356F	MED23_uc003qcq.2_Missense_Mutation_p.L362F|MED23_uc011eca.1_Missense_Mutation_p.L45F|MED23_uc003qct.1_Missense_Mutation_p.L362F|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	356					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTCTGATGAAGAGAAAGCACC	0.428		NA											30	79					0	0	0	0
MAP3K5	4217	broad.mit.edu	37	6	136960771	136960771	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:136960771G>C	uc003qhc.2	-	13	2205	c.1844C>G	c.(1843-1845)TCT>TGT	p.S615C	MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.S460C	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	615					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTCAAATTTAGAAATACTGAA	0.289		NA											13	37					0	0	0	0
IFNGR1	3459	broad.mit.edu	37	6	137525504	137525504	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:137525504C>T	uc003qho.2	-	4	614	c.511G>A	c.(511-513)GTG>ATG	p.V171M	IFNGR1_uc011edm.1_Missense_Mutation_p.V143M|IFNGR1_uc011edn.1_Missense_Mutation_p.V161M	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	171	Extracellular (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACATTGTACACCCTAATGTAA	0.378		NA											49	191					0	0	0	0
UTRN	7402	broad.mit.edu	37	6	144808819	144808819	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:144808819G>C	uc003qkt.2	+	28	4050	c.3958G>C	c.(3958-3960)GAT>CAT	p.D1320H		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1320	Spectrin 9.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCGATATGAAGATCTAAGTCA	0.458		NA											34	92					0	0	0	0
GRM1	2911	broad.mit.edu	37	6	146673564	146673564	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:146673564C>T	uc010khw.1	+	5	1835	c.1365C>T	c.(1363-1365)ATC>ATT	p.I455I	GRM1_uc010khv.1_Silent_p.I455I|GRM1_uc003qll.2_Silent_p.I455I|GRM1_uc011edz.1_Silent_p.I455I|GRM1_uc011eea.1_Silent_p.I455I	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	455	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACTTCCTCATCAAGTCCTCAT	0.522		NA											70	283					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152686067	152686067	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:152686067C>G	uc010kiw.2	-	63	10662	c.10060G>C	c.(10060-10062)GAA>CAA	p.E3354Q	SYNE1_uc003qot.3_Missense_Mutation_p.E3361Q|SYNE1_uc003qou.3_Missense_Mutation_p.E3354Q|SYNE1_uc010kja.1_Missense_Mutation_p.E59Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3354	Spectrin 7.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAATGCCTTCTGGAGAAGTA	0.438		NA								HNSCC(10;0.0054)			36	123					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152686096	152686096	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:152686096C>G	uc010kiw.2	-	63	10633	c.10031G>C	c.(10030-10032)GGA>GCA	p.G3344A	SYNE1_uc003qot.3_Missense_Mutation_p.G3351A|SYNE1_uc003qou.3_Missense_Mutation_p.G3344A|SYNE1_uc010kja.1_Missense_Mutation_p.G49A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3344	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACAGATTCTCCCCTGGTCAC	0.428		NA								HNSCC(10;0.0054)			36	110					0	0	0	0
FNDC1	84624	broad.mit.edu	37	6	159654085	159654085	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:159654085C>T	uc010kjv.2	+	11	2741	c.2541C>T	c.(2539-2541)AGC>AGT	p.S847S	FNDC1_uc010kjw.1_Silent_p.S732S	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	847						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCTCCAGCTCCCCACAGT	0.607		NA											7	16					0	0	0	0
LPA	4018	broad.mit.edu	37	6	160977188	160977188	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:160977188C>T	uc003qtl.2	-	31	4962	c.4842G>A	c.(4840-4842)CGG>CGA	p.R1614R		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4122	Kringle 37.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.R1614Q(1)		ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTAGCACTGCCGGACCACAG	0.468		NA											4	161					0	0	0	0
PLG	5340	broad.mit.edu	37	6	161157959	161157959	+	Silent	SNP	G	G	A	rs146030266		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:161157959G>A	uc003qtm.3	+	14	1785	c.1722G>A	c.(1720-1722)CCG>CCA	p.P574P		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	574					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGTGGAGCCGAAGAAATGTC	0.517		NA											42	85					0	0	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470020	161470020	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:161470020C>G	uc003qtn.2	+	3	858	c.716C>G	c.(715-717)TCA>TGA	p.S239*	MAP3K4_uc010kkc.1_Nonsense_Mutation_p.S239*|MAP3K4_uc003qto.2_Nonsense_Mutation_p.S239*|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	239					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCTCAGTCTCAAAGAAAAAA	0.433		NA											21	70					0	0	0	0
C6orf118	168090	broad.mit.edu	37	6	165693562	165693562	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:165693562C>G	uc003qum.3	-	9	1430	c.1394G>C	c.(1393-1395)AGA>ACA	p.R465T		NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	465											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCTGTTTCCTCTGATTTTACA	0.323		NA											27	63					0	0	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166918077	166918077	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:166918077G>A	uc003qvb.1	-	6	702	c.483C>T	c.(481-483)GTC>GTT	p.V161V	RPS6KA2_uc011ego.1_Silent_p.V72V|RPS6KA2_uc010kkl.1_Silent_p.V72V|RPS6KA2_uc003qvc.1_Silent_p.V169V|RPS6KA2_uc003qvd.1_Silent_p.V186V	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	161	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGTAGAACTTGACATCCTCCT	0.398		NA											52	119					0	0	0	0
TCP10	6953	broad.mit.edu	37	6	167787923	167787923	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:167787923G>C	uc003qvv.1	-	7	917	c.705C>G	c.(703-705)GTC>GTG	p.V235V	TCP10_uc003qvu.2_Silent_p.V235V|TCP10_uc003qvw.2_3'UTR	NM_004610	NP_004601	Q12799	TCP10_HUMAN	t-complex 10	262						cytosol				breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AACTCCCTAAGACTGATGAGC	0.463		NA											3	44					0	0	0	0
HEATR2	54919	broad.mit.edu	37	7	794332	794332	+	Silent	SNP	G	G	A	rs151119269		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:794332G>A	uc010krz.1	+	5	1151	c.1131G>A	c.(1129-1131)GTG>GTA	p.V377V	HEATR2_uc003siz.2_Silent_p.V245V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	377	HEAT 6.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GGACCCGAGTGAAGTCGGCAC	0.672		NA											68	174					0	0	0	0
SUN1	23353	broad.mit.edu	37	7	912962	912962	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:912962C>G	uc011jvp.1	+	20	2431	c.2352C>G	c.(2350-2352)GTC>GTG	p.V784V	GET4_uc003sjj.1_Intron|SUN1_uc003sjf.2_Silent_p.V701V|SUN1_uc011jvq.1_Silent_p.V681V|SUN1_uc003sjg.2_Silent_p.V689V|SUN1_uc011jvr.1_Silent_p.V582V|SUN1_uc003sji.2_Silent_p.V622V|SUN1_uc003sjk.2_Silent_p.V423V	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	811	Perinuclear space.|SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GCGAACCTGTCAAGTGAAGAC	0.428		NA									OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	158					0	0	0	0
MICALL2	79778	broad.mit.edu	37	7	1486399	1486399	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:1486399C>G	uc003skj.3	-	5	738	c.591G>C	c.(589-591)CTG>CTC	p.L197L		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	197	LIM zinc-binding.					cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCCGCTGTACCAGGTGCACGT	0.677		NA											3	24					0	0	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340094	5340094	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5340094G>C	uc003sod.2	+	10	1412	c.1251G>C	c.(1249-1251)CTG>CTC	p.L417L	SLC29A4_uc003soc.2_Silent_p.L417L|SLC29A4_uc003soe.2_Silent_p.L403L|SLC29A4_uc010ksw.2_Intron	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	417	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCACCCACCTGCTGGCCTGCT	0.706		NA											28	68					0	0	0	0
RNF216	54476	broad.mit.edu	37	7	5662575	5662575	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5662575G>A	uc003soy.1	-	17	2707	c.2517C>T	c.(2515-2517)GTC>GTT	p.V839V	RNF216_uc010ksz.1_Silent_p.V461V|RNF216_uc010kta.1_Silent_p.V461V|RNF216_uc011jwj.1_Silent_p.V461V|RNF216_uc003sox.1_Silent_p.V896V	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	839	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGTCATAGTTGACCCGCACGT	0.642		NA											75	203					0	0	0	0
RNF216	54476	broad.mit.edu	37	7	5662592	5662592	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5662592G>C	uc003soy.1	-	17	2690	c.2500C>G	c.(2500-2502)CTG>GTG	p.L834V	RNF216_uc010ksz.1_Missense_Mutation_p.L456V|RNF216_uc010kta.1_Missense_Mutation_p.L456V|RNF216_uc011jwj.1_Missense_Mutation_p.L456V|RNF216_uc003sox.1_Missense_Mutation_p.L891V	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	834	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACGTTGGGCAGAGGGGGCACG	0.647		NA											69	186					0	0	0	0
HDAC9	9734	broad.mit.edu	37	7	18624936	18624936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:18624936G>T	uc003suh.2	+	2	96	c.55G>T	c.(55-57)GAG>TAG	p.E19*	HDAC9_uc003sue.2_Nonsense_Mutation_p.E19*|HDAC9_uc011jyd.1_Nonsense_Mutation_p.E19*|HDAC9_uc003sui.2_Nonsense_Mutation_p.E19*|HDAC9_uc003suj.2_Nonsense_Mutation_p.E19*|HDAC9_uc011jya.1_Nonsense_Mutation_p.E60*|HDAC9_uc003sua.1_Nonsense_Mutation_p.E38*|HDAC9_uc011jyb.1_Nonsense_Mutation_p.E19*|HDAC9_uc003sud.1_Nonsense_Mutation_p.E19*|HDAC9_uc011jyc.1_Nonsense_Mutation_p.E19*|HDAC9_uc003suf.1_Nonsense_Mutation_p.E47*|HDAC9_uc010kud.1_Nonsense_Mutation_p.E19*|HDAC9_uc011jye.1_5'UTR|HDAC9_uc011jyf.1_5'UTR	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	19					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTGGGCCTGGAGCCCATCTC	0.483		NA											95	245					3.18e-57	3.45e-57	1	0
CDCA7L	55536	broad.mit.edu	37	7	21947813	21947813	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:21947813C>T	uc010kuk.2	-	4	736	c.616G>A	c.(616-618)GAG>AAG	p.E206K	CDCA7L_uc003sve.3_Missense_Mutation_p.E172K|CDCA7L_uc010kul.2_Missense_Mutation_p.E160K|CDCA7L_uc003svf.3_Missense_Mutation_p.E205K|CDCA7L_uc011jyk.1_Missense_Mutation_p.E206K	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	206					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						TCCTGGCTCTCATCCCGAGAG	0.463		NA											22	49					0	0	0	0
MPP6	51678	broad.mit.edu	37	7	24703280	24703280	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:24703280G>A	uc003swx.2	+	7	1022	c.723G>A	c.(721-723)TTG>TTA	p.L241L	MPP6_uc003swy.2_Silent_p.L241L|MPP6_uc010kur.2_5'Flank	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	241	SH3.				protein complex assembly		protein binding				0						AAGCAGGATTGAAGTTTTCCA	0.338		NA											41	114					0	0	0	0
TBX20	57057	broad.mit.edu	37	7	35242187	35242187	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:35242187G>T	uc011kas.1	-	8	1210	c.1199C>A	c.(1198-1200)TCG>TAG	p.S400*		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	400						nucleus	DNA binding			central_nervous_system(1)	1						GGCAATGGCCGATGGTGTCAG	0.562		NA											16	51					9.77e-05	0.000100085	1	0
VPS41	27072	broad.mit.edu	37	7	38785180	38785180	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:38785180C>G	uc003tgy.2	-	23	1986	c.1960G>C	c.(1960-1962)GAA>CAA	p.E654Q	VPS41_uc003tgz.2_Missense_Mutation_p.E629Q|VPS41_uc010kxn.2_Missense_Mutation_p.E565Q|VPS41_uc003tgx.2_RNA	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	654	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						ACTGTCTCTTCTACAAAGTTT	0.338		NA											62	167					0	0	0	0
CDK13	8621	broad.mit.edu	37	7	40134276	40134276	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:40134276C>T	uc003thh.3	+	14	4518	c.4236C>T	c.(4234-4236)CTC>CTT	p.L1412L	CDK13_uc003thi.3_Silent_p.L1352L|CDK13_uc003thj.2_Silent_p.L463L|CDK13_uc003thk.2_Silent_p.L345L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1412					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						ACATTTACCTCAATGCTGGTC	0.473		NA											82	235					0	0	0	0
ADCY1	107	broad.mit.edu	37	7	45662289	45662289	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:45662289G>C	uc003tne.3	+	4	985	c.967G>C	c.(967-969)GAG>CAG	p.E323Q	ADCY1_uc003tnd.2_Missense_Mutation_p.E98Q	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	323	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACAGCCCAGGAGCTGGTGAA	0.507		NA											10	65					0	0	0	0
ABCA13	154664	broad.mit.edu	37	7	48314889	48314889	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:48314889G>C	uc003toq.2	+	17	5651	c.5626G>C	c.(5626-5628)GAA>CAA	p.E1876Q	ABCA13_uc010kyr.2_Missense_Mutation_p.E1379Q	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1876					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATGTTCAAATGAAAGCTCCCG	0.423		NA											33	98					0	0	0	0
ABCA13	154664	broad.mit.edu	37	7	48315502	48315502	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:48315502C>G	uc003toq.2	+	17	6264	c.6239C>G	c.(6238-6240)TCT>TGT	p.S2080C	ABCA13_uc010kyr.2_Missense_Mutation_p.S1583C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2080					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CACCTGCTTTCTGAAATGAAC	0.363		NA											15	52					0	0	0	0
COBL	23242	broad.mit.edu	37	7	51095705	51095705	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:51095705G>C	uc003tpr.3	-	10	3273	c.3088C>G	c.(3088-3090)CAG>GAG	p.Q1030E	COBL_uc003tps.2_Missense_Mutation_p.Q1087E|COBL_uc011kcl.1_Missense_Mutation_p.Q1030E|COBL_uc003tpp.3_Missense_Mutation_p.Q816E|COBL_uc003tpq.3_Missense_Mutation_p.Q971E|COBL_uc003tpo.3_Missense_Mutation_p.Q572E	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	1030										skin(3)|ovary(2)	5	Glioma(55;0.08)					CTGCAGGCCTGAGTGTCAGAT	0.622		NA											29	80					0	0	0	0
POM121L12	285877	broad.mit.edu	37	7	53103598	53103598	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:53103598C>G	uc003tpz.2	+	1	250	c.234C>G	c.(232-234)ATC>ATG	p.I78M		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	78											0						CCCACCTCATCGAGGTGCGGC	0.716		NA											4	27					0	0	0	0
RABGEF1	27342	broad.mit.edu	37	7	66248715	66248715	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:66248715G>A	uc011kee.1	+	4	606	c.442G>A	c.(442-444)GAA>AAA	p.E148K	RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_Intron|RABGEF1_uc010lag.2_Missense_Mutation_p.E134K|RABGEF1_uc003tvh.2_Missense_Mutation_p.E134K|RABGEF1_uc003tvi.2_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	312					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						AACCAGCATTGAAACGGATAG	0.393		NA											23	50					0	0	0	0
DNAJC30	84277	broad.mit.edu	37	7	73097515	73097515	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:73097515C>T	uc003tys.1	-	1	267	c.239G>A	c.(238-240)CGC>CAC	p.R80H	WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog subfamily C member 30	80	J.				protein folding		heat shock protein binding|unfolded protein binding				0						CCCGGAGTTGCGGTCCGGGTG	0.667		NA											4	133					0	0	0	0
LIMK1	3984	broad.mit.edu	37	7	73523309	73523309	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:73523309C>G	uc003uaa.1	+	10	1392	c.1227C>G	c.(1225-1227)CTC>CTG	p.L409L	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.L375L|LIMK1_uc003uac.1_Silent_p.L201L	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	409	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				ACAAGAGGCTCAACTTCATCA	0.413		NA											19	31					0	0	0	0
CACNA2D1	781	broad.mit.edu	37	7	81603800	81603800	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:81603800A>C	uc003uhr.1	-	25	2280	c.2024T>G	c.(2023-2025)ATT>AGT	p.I675S		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	687	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTTCTATCAATAAACTCGTT	0.284		NA											3	38					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82474791	82474791	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:82474791C>T	uc003uhx.2	-	13	14131	c.13842G>A	c.(13840-13842)GCG>GCA	p.A4614A	PCLO_uc003uhv.2_Silent_p.A4614A|PCLO_uc003uht.1_Silent_p.A65A|PCLO_uc003uhu.1_Silent_p.A44A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4502					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGGGGATTTCGCCTTATCCA	0.418		NA											6	19					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82545543	82545543	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:82545543G>A	uc003uhx.2	-	7	12048	c.11759C>T	c.(11758-11760)TCA>TTA	p.S3920L	PCLO_uc003uhv.2_Missense_Mutation_p.S3920L|PCLO_uc010lec.2_Missense_Mutation_p.S885L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3851	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGATAAGGTGAAACTTGCTG	0.463		NA											114	440					0	0	0	0
GRM3	2913	broad.mit.edu	37	7	86468181	86468181	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:86468181G>C	uc003uid.2	+	4	2450	c.1351G>C	c.(1351-1353)GAT>CAT	p.D451H	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.D323H|GRM3_uc010leh.2_Missense_Mutation_p.D43H	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	451	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TAAAGATGCAGATAGCATAGT	0.358		NA											5	34					0	0	0	0
GRM3	2913	broad.mit.edu	37	7	86468291	86468291	+	Silent	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:86468291A>T	uc003uid.2	+	4	2560	c.1461A>T	c.(1459-1461)GCA>GCT	p.A487A	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.A359A|GRM3_uc010leh.2_Silent_p.A79A	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	487	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCACTGGGCAGAAACCTTAT	0.468		NA											21	51					0	0	0	0
ABCB1	5243	broad.mit.edu	37	7	87195516	87195516	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:87195516C>G	uc003uiz.1	-	8	990	c.572G>C	c.(571-573)GGA>GCA	p.G191A	ABCB1_uc011khc.1_Missense_Mutation_p.G127A	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	191	Helical; (Potential).|ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAAGAACATTCCAATTTTGTC	0.363		NA											5	150					0	0	0	0
ADAM22	53616	broad.mit.edu	37	7	87564431	87564431	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:87564431C>T	uc003ujn.2	+	2	255	c.176C>T	c.(175-177)TCG>TTG	p.S59L	ADAM22_uc003uji.1_Missense_Mutation_p.S58L|ADAM22_uc003ujj.1_Missense_Mutation_p.S59L|ADAM22_uc003ujk.1_Missense_Mutation_p.S59L|ADAM22_uc003ujl.1_Missense_Mutation_p.S59L|ADAM22_uc003ujm.2_Missense_Mutation_p.S59L|ADAM22_uc003ujo.2_Missense_Mutation_p.S59L|ADAM22_uc003ujp.1_Missense_Mutation_p.S111L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	59					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTACCGCTCGGGCGGCGAA	0.667		NA											15	52					0	0	0	0
C7orf63	79846	broad.mit.edu	37	7	89906554	89906554	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:89906554G>C	uc010lep.2	+	11	1312	c.1061G>C	c.(1060-1062)GGA>GCA	p.G354A	C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.G29A|C7orf63_uc011khj.1_Missense_Mutation_p.G336A|C7orf63_uc011khk.1_5'Flank	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	354							binding			ovary(1)	1						TTGGTAAAAGGACTTAAGCTT	0.274		NA											9	70					0	0	0	0
COL1A2	1278	broad.mit.edu	37	7	94049587	94049587	+	Missense_Mutation	SNP	C	C	T	rs139199272		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94049587C>T	uc003ung.1	+	35	2593	c.2122C>T	c.(2122-2124)CGG>TGG	p.R708W	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	708			R -> Q (in Marfan syndrome).|Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	tgctggtcctCGGGGAAGCCC	0.353		NA								HNSCC(75;0.22)			45	126					0	0	0	0
PEG10	23089	broad.mit.edu	37	7	94293385	94293385	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94293385C>T	uc011kie.1	+	2	962	c.745C>T	c.(745-747)CGC>TGC	p.R249C		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	173	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGATCAGACGCCTGCGCCA	0.527		NA											61	229					0	0	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881322	94881322	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94881322C>G	uc003unp.2	+	11	2761	c.2479C>G	c.(2479-2481)CAA>GAA	p.Q827E	PPP1R9A_uc010lfj.2_Missense_Mutation_p.Q849E|PPP1R9A_uc011kif.1_Missense_Mutation_p.Q827E|PPP1R9A_uc003unq.2_Missense_Mutation_p.Q827E|PPP1R9A_uc011kig.1_Missense_Mutation_p.Q827E	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	827	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAATGGGACTCAAGTTAACAA	0.398		NA								HNSCC(28;0.073)			21	90					0	0	0	0
GIGYF1	64599	broad.mit.edu	37	7	100279772	100279772	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100279772C>T	uc003uwg.1	-	22	3857	c.2848G>A	c.(2848-2850)GAA>AAA	p.E950K		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	950										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTTGGCTTCCAGCGTGTCC	0.438		NA											24	68					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100677779	100677779	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100677779G>A	uc003uxp.1	+	3	3135	c.3082G>A	c.(3082-3084)GAA>AAA	p.E1028K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1028	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCACTGCTGAAGGTACCAG	0.517		NA											152	419					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100683350	100683350	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100683350G>A	uc003uxp.1	+	3	8706	c.8653G>A	c.(8653-8655)GAG>AAG	p.E2885K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2885	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|46.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483		NA											145	425					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100683466	100683466	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100683466T>C	uc003uxp.1	+	3	8822	c.8769T>C	c.(8767-8769)CCT>CCC	p.P2923P	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2923	Extracellular (Potential).|47.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCAACTCCTAGTGAAGTAA	0.483		NA											154	355					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100684033	100684033	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100684033C>G	uc003uxp.1	+	3	9389	c.9336C>G	c.(9334-9336)GTC>GTG	p.V3112V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3112	Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGTGCCTGTCAGCACCACAC	0.493		NA											157	397					0	0	0	0
C7orf52	375607	broad.mit.edu	37	7	100815677	100815677	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100815677C>G	uc003uxy.1	-	4	1032	c.793G>C	c.(793-795)GAG>CAG	p.E265Q	C7orf52_uc003uxz.1_Missense_Mutation_p.E265Q	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	265							N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					ACGCGCCACTCCAGGCCCTTG	0.711		NA											3	10					0	0	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102047920	102047920	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:102047920G>A	uc003uzh.2	+	5	487	c.432G>A	c.(430-432)ATG>ATA	p.M144I	PRKRIP1_uc003uzf.2_Missense_Mutation_p.M93I|PRKRIP1_uc003uzg.2_Missense_Mutation_p.M93I|PRKRIP1_uc011kkq.1_Missense_Mutation_p.M87I|PRKRIP1_uc011kkr.1_Intron|MIR548O_hsa-mir-548o|MI0006402_5'Flank	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	144	Potential.					nucleolus				ovary(1)	1						CAAAGAAGATGAAACTTGAAC	0.353		NA											19	36					0	0	0	0
SLC26A5	375611	broad.mit.edu	37	7	103014907	103014907	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:103014907G>A	uc003vbz.2	-	20	2410	c.2174C>T	c.(2173-2175)TCG>TTG	p.S725L	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.S693L|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	725	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						AGGGGGAGCCGAGGCTTCCTG	0.532		NA											26	68					0	0	0	0
RINT1	60561	broad.mit.edu	37	7	105189098	105189098	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:105189098C>G	uc003vda.1	+	7	1168	c.937C>G	c.(937-939)CTT>GTT	p.L313V	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	313	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						GCTGACTCCTCTTCAGAAGAG	0.463		NA											5	349					0	0	0	0
CDHR3	222256	broad.mit.edu	37	7	105624678	105624678	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:105624678C>T	uc003vdl.3	+	4	564	c.456C>T	c.(454-456)TTC>TTT	p.F152F	CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_Intron|CDHR3_uc003vdm.3_Silent_p.F139F|CDHR3_uc011klt.1_Silent_p.F64F	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	152	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						ACCCTGGATTCATTTACCAGG	0.438		NA											8	45					0	0	0	0
THAP5	168451	broad.mit.edu	37	7	108204874	108204874	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:108204874C>G	uc003vfm.2	-	3	1103	c.949G>C	c.(949-951)GTT>CTT	p.V317L	THAP5_uc003vfl.2_Missense_Mutation_p.V275L	NM_001130475	NP_001123947	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5 isoform 1	317					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding				0						ATTTGTAAAACTTCTGTCCCA	0.348		NA											54	191					0	0	0	0
CFTR	1080	broad.mit.edu	37	7	117243763	117243763	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:117243763G>A	uc003vjd.2	+	17	2967	c.2835G>A	c.(2833-2835)TCG>TCA	p.S945S	CFTR_uc011knq.1_Silent_p.S351S	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	945	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCACAGTGTCGAAAATTTTAC	0.398		NA							Cystic_Fibrosis				49	118					0	0	0	0
KCND2	3751	broad.mit.edu	37	7	119915729	119915729	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:119915729G>T	uc003vjj.1	+	1	2008	c.1043G>T	c.(1042-1044)GGG>GTG	p.G348V		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	348					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GCAGAGAAGGGGTCTTCGGCT	0.493		NA											36	145					9.86e-28	1.06e-27	1	0
TRIM24	8805	broad.mit.edu	37	7	138235861	138235861	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:138235861G>A	uc003vuc.2	+	8	1412	c.1197G>A	c.(1195-1197)GTG>GTA	p.V399V	TRIM24_uc003vub.2_Silent_p.V399V	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	399					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						CATCCCCAGTGACCAACAACA	0.403		NA											42	154					0	0	0	0
TBXAS1	6916	broad.mit.edu	37	7	139572057	139572057	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:139572057G>C	uc011kqv.1	+	2	280	c.116G>C	c.(115-117)AGA>ACA	p.R39T	TBXAS1_uc003vvh.2_Missense_Mutation_p.R39T|TBXAS1_uc010lne.2_5'UTR|TBXAS1_uc011kqu.1_Intron|TBXAS1_uc003vvi.2_Missense_Mutation_p.R39T|TBXAS1_uc003vvj.2_Missense_Mutation_p.R39T|TBXAS1_uc011kqw.1_Missense_Mutation_p.K9N|TBXAS1_uc011kqx.1_Missense_Mutation_p.R39T	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	38	Lumenal (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					GCATTCTCAAGACTGGAGAAG	0.443		NA											62	162					0	0	0	0
MGAM	8972	broad.mit.edu	37	7	141752582	141752582	+	Splice_Site	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:141752582A>G	uc003vwy.2	+	26	3013	c.2959_splice	c.e26-2	p.A987_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTACTTTTCAGGCATCCAAT	0.398		NA											3	173					0	0	0	0
FAM115A	9747	broad.mit.edu	37	7	143573509	143573509	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:143573509C>T	uc003wdo.1	-	2	326	c.193G>A	c.(193-195)GAG>AAG	p.E65K	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.E65K	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	65											0	Melanoma(164;0.0903)					AAGTAGTCCTCATGGGACACG	0.587		NA											16	58					0	0	0	0
TPK1	27010	broad.mit.edu	37	7	144288620	144288620	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:144288620C>T	uc003weq.2	-	7	500	c.397G>A	c.(397-399)GAC>AAC	p.D133N	TPK1_uc003weo.2_Intron|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Intron|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	133					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	ATAATCTGGTCAAAACGCCCA	0.428		NA											35	118					0	0	0	0
ZNF282	8427	broad.mit.edu	37	7	148895519	148895519	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:148895519G>A	uc003wfm.2	+	2	365	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	ZNF282_uc011kun.1_Missense_Mutation_p.R87Q|ZNF282_uc003wfn.2_Missense_Mutation_p.R27Q|ZNF282_uc003wfo.2_Missense_Mutation_p.R27Q	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	87					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CGCATGATGCGAGAGCCCCAG	0.602		NA											24	84					0	0	0	0
ZNF777	27153	broad.mit.edu	37	7	149152780	149152780	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:149152780C>G	uc003wfv.2	-	2	497	c.334G>C	c.(334-336)GAA>CAA	p.E112Q		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTTCTTGTTCAGCAGCAGCT	0.612		NA											8	225					0	0	0	0
ZNF746	155061	broad.mit.edu	37	7	149171704	149171704	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:149171704G>A	uc003wfw.2	-	7	1977	c.1706C>T	c.(1705-1707)ACC>ATC	p.T569I	ZNF746_uc010lpi.2_Missense_Mutation_p.T570I	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	569	C2H2-type 4.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCGCAGACGGTGCAGGTGAA	0.672		NA											5	20					0	0	0	0
GBX1	2636	broad.mit.edu	37	7	150845891	150845891	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:150845891G>C	uc011kvg.1	-	2	1109	c.877C>G	c.(877-879)CAG>GAG	p.Q293E		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	293	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGCGATCTGAGAGCGCTCT	0.532		NA											38	91					0	0	0	0
ABCF2	10061	broad.mit.edu	37	7	150916225	150916225	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:150916225C>T	uc003wjp.2	-	8	1053	c.942G>A	c.(940-942)GTG>GTA	p.V314V	ABCF2_uc003wjo.1_Silent_p.V314V	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	314	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGCGTCTTCACGTACTGAT	0.502		NA											71	201					0	0	0	0
NOM1	64434	broad.mit.edu	37	7	156746954	156746954	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156746954C>T	uc003wmy.2	+	3	1285	c.1270C>T	c.(1270-1272)CTC>TTC	p.L424F		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	424	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGCATGTTCTCTTAGTCAG	0.502		NA											13	61					0	0	0	0
MNX1	3110	broad.mit.edu	37	7	156802973	156802973	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156802973C>G	uc003wnd.1	-	1	375	c.72G>C	c.(70-72)CAG>CAC	p.Q24H	MNX1_uc003wmz.2_5'Flank|MNX1_uc003wna.2_Missense_Mutation_p.Q24H|MNX1_uc010lqq.1_5'Flank|MNX1_uc003wnc.1_5'Flank|MNX1_uc010lqr.1_5'Flank|uc003wne.1_5'Flank	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	24				DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).	humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGCGCGCTCTGCGCAGAGG	0.562		NA							Currarino_syndrome				3	13					0	0	0	0
UBE3C	9690	broad.mit.edu	37	7	156931979	156931979	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156931979G>A	uc010lqs.2	+	1	325	c.13G>A	c.(13-15)GAA>AAA	p.E5K	UBE3C_uc003wnf.2_Missense_Mutation_p.E5K|UBE3C_uc003wng.2_Missense_Mutation_p.E5K	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	5	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTTCAGCTTCGAAGGCGACTT	0.557		NA											4	23					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	3226815	3226815	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:3226815G>C	uc011kwk.1	-	19	3253	c.2863C>G	c.(2863-2865)CTA>GTA	p.L955V	CSMD1_uc011kwj.1_Missense_Mutation_p.L347V|CSMD1_uc003wqe.2_Missense_Mutation_p.L111V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	955	Extracellular (Potential).|CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGCAGTTTAGAGAGTTTGGA	0.398		NA											5	32					0	0	0	0
CLDN23	137075	broad.mit.edu	37	8	8560295	8560295	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:8560295C>A	uc003wsi.2	+	1	630	c.387C>A	c.(385-387)CTC>CTA	p.L129L		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	129	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		TCCTCGGCCTCATCCCGGTGT	0.701		NA											12	18					4.38e-07	4.55e-07	1	0
RP1L1	94137	broad.mit.edu	37	8	10468185	10468185	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:10468185G>C	uc003wtc.2	-	4	3652	c.3423C>G	c.(3421-3423)TTC>TTG	p.F1141L		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1141					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGGAGTCTTTGAACCTCACTT	0.592		NA											20	85					0	0	0	0
DLC1	10395	broad.mit.edu	37	8	13356866	13356866	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:13356866C>T	uc003wwm.2	-	2	1159	c.715G>A	c.(715-717)GAC>AAC	p.D239N	DLC1_uc003wwn.2_Missense_Mutation_p.D239N|DLC1_uc011kxy.1_Missense_Mutation_p.D239N	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	239					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						TTAGGGGGGTCAGGTTTCCTT	0.398		NA											84	283					0	0	0	0
FGF20	26281	broad.mit.edu	37	8	16850803	16850803	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:16850803G>T	uc003wxc.1	-	3	547	c.414C>A	c.(412-414)ATC>ATA	p.I138I	FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Missense_Mutation_p.L104I	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	138					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			lung(1)	1				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTCCCTAAAGATGCATTCGG	0.333		NA											45	215					2.78e-22	2.97e-22	1	0
NPM2	10361	broad.mit.edu	37	8	21891774	21891774	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:21891774G>A	uc003xab.2	+	6	1177	c.519G>A	c.(517-519)GCG>GCA	p.A173A	NPM2_uc003xac.2_Silent_p.A173A|NPM2_uc003xad.2_Silent_p.A173A|NPM2_uc003xae.2_Silent_p.A173A|NPM2_uc003xaf.2_Intron	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	nucleoplasmin 2	173					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AGAAGCAGGCGAGCGTGGCTA	0.493		NA											5	66					0	0	0	0
FBXO16	157574	broad.mit.edu	37	8	28321304	28321304	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:28321304C>G	uc003xgu.2	-	4	265	c.167G>C	c.(166-168)AGA>ACA	p.R56T	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.R43T|FBXO16_uc003xgw.2_Missense_Mutation_p.R43T	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	56										ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGTGAGGATTCTTCTTCTTTG	0.438		NA											20	69					0	0	0	0
STAR	6770	broad.mit.edu	37	8	38005783	38005783	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:38005783C>T	uc003xkv.1	-	3	505	c.241G>A	c.(241-243)GAG>AAG	p.E81K	STAR_uc010lwc.1_Missense_Mutation_p.E43K	NM_001007243	NP_001007244	P49675	STAR_HUMAN	steroidogenic acute regulatory protein isoform	81	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TGCATGGCCTCCTCCCCCTGC	0.567		NA											23	39					0	0	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611623	42611623	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:42611623G>A	uc003xpj.2	-	5	765	c.719C>T	c.(718-720)CCG>CTG	p.P240L	CHRNA6_uc011lcw.1_Missense_Mutation_p.P225L	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	240	Helical; (Potential).					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTAAAACATCGGCAATCTTCT	0.368		NA											28	56					0	0	0	0
POTEA	340441	broad.mit.edu	37	8	43173738	43173738	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:43173738C>T	uc003xpz.1	+	9	1203	c.1160C>T	c.(1159-1161)CCT>CTT	p.P387L	POTEA_uc003xqa.1_Missense_Mutation_p.P341L	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	387										ovary(1)	1						CAGCAATTTCCTAACACAGAG	0.393		NA											18	72					0	0	0	0
PRKDC	5591	broad.mit.edu	37	8	48776002	48776002	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:48776002G>A	uc003xqi.2	-	43	5765	c.5708C>T	c.(5707-5709)TCG>TTG	p.S1903L	PRKDC_uc003xqj.2_Missense_Mutation_p.S1903L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1903					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTAATACACGAGCCATGGAA	0.313		NA						NHEJ					44	170					0	0	0	0
RP1	6101	broad.mit.edu	37	8	55538105	55538105	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:55538105C>G	uc003xsd.1	+	4	1811	c.1663C>G	c.(1663-1665)CAG>GAG	p.Q555E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	555					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTACAAGTCAGAAGATGTT	0.338		NA											20	103					0	0	0	0
XKR4	114786	broad.mit.edu	37	8	56015534	56015534	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:56015534C>T	uc003xsf.2	+	1	518	c.486C>T	c.(484-486)TTC>TTT	p.F162F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	162	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCAAGTGTTCAGCTTCCGCT	0.652		NA											24	63					0	0	0	0
VCPIP1	80124	broad.mit.edu	37	8	67547415	67547415	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:67547415G>C	uc003xwn.2	-	3	3249	c.2990C>G	c.(2989-2991)TCA>TGA	p.S997*		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	997					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGAGGGACTTGATTCCCTACT	0.438		NA											76	280					0	0	0	0
SULF1	23213	broad.mit.edu	37	8	70550802	70550802	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:70550802G>A	uc010lza.1	+	20	3067	c.2350G>A	c.(2350-2352)GAG>AAG	p.E784K	SULF1_uc003xyd.2_Missense_Mutation_p.E784K|SULF1_uc003xye.2_Missense_Mutation_p.E784K|SULF1_uc003xyf.2_Missense_Mutation_p.E784K|SULF1_uc003xyg.2_Missense_Mutation_p.E784K|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Intron|SULF1_uc003xyj.1_5'UTR	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	784					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACAGTTAATGAGACGCATAA	0.343		NA											40	171					0	0	0	0
TRPA1	8989	broad.mit.edu	37	8	72942205	72942205	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:72942205C>G	uc003xza.2	-	24	3044	c.2869_splice	c.e24-1	p.I957_splice	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1							integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CCAAACCAATCTGAAGTATGA	0.299		NA											22	75					0	0	0	0
TRPA1	8989	broad.mit.edu	37	8	72981315	72981315	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:72981315G>A	uc003xza.2	-	3	562	c.387C>T	c.(385-387)TTC>TTT	p.F129F		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	129	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CCATCATGTTGAAGTTTCGGA	0.478		NA											22	434					0	0	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151798	87151798	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87151798G>C	uc003ydp.1	+	3	484	c.415G>C	c.(415-417)GAA>CAA	p.E139Q		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0	139					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0						CACAGAAATGGAAGCTGTCAA	0.428		NA											38	226					0	0	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242048	87242048	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87242048C>G	uc003ydq.1	-	1	557	c.459G>C	c.(457-459)GTG>GTC	p.V153V	SLC7A13_uc003ydr.1_Silent_p.V153V	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	153	Cytoplasmic (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						TCACTTCTTTCACACCACGAG	0.453		NA											28	114					0	0	0	0
CNGB3	54714	broad.mit.edu	37	8	87616352	87616352	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87616352G>C	uc003ydx.2	-	15	1796	c.1750C>G	c.(1750-1752)CTG>GTG	p.L584V	CNGB3_uc010maj.2_Missense_Mutation_p.L446V	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	584	Cytoplasmic (Potential).|cGMP (By similarity).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						CCAGCTTTCAGAGTAACCAGA	0.368		NA											24	101					0	0	0	0
NBN	4683	broad.mit.edu	37	8	90965508	90965508	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:90965508G>A	uc003yej.1	-	11	1919	c.1809C>T	c.(1807-1809)TTC>TTT	p.F603F	NBN_uc003yei.1_Silent_p.F521F|NBN_uc011lgb.1_Silent_p.F603F	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	603					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)			CTTCATCACTGAAAGTGTCAT	0.343		NA						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				67	262					0	0	0	0
TMEM55A	55529	broad.mit.edu	37	8	92032432	92032432	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:92032432G>A	uc003yes.2	-	3	541	c.315C>T	c.(313-315)CTC>CTT	p.L105L		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	105						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(11;0.033)			CCTTACAAATGAGAAGACAAT	0.343		NA											30	151					0	0	0	0
TMEM67	91147	broad.mit.edu	37	8	94767324	94767324	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:94767324C>G	uc011lgk.1	+	1	253	c.182C>G	c.(181-183)TCG>TGG	p.S61W	TMEM67_uc010mau.2_Missense_Mutation_p.S61W|TMEM67_uc010mav.2_Missense_Mutation_p.S61W|TMEM67_uc010mat.1_5'UTR|TMEM67_uc010maw.2_Missense_Mutation_p.S61W|TMEM67_uc003yga.3_5'UTR	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	61					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TCCGCCCTCTCGTGTGTTCCT	0.562		NA											57	263					0	0	0	0
ESRP1	54845	broad.mit.edu	37	8	95683700	95683700	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:95683700C>T	uc003ygq.3	+	11	1436	c.1253C>T	c.(1252-1254)TCG>TTG	p.S418L	ESRP1_uc003ygr.3_Missense_Mutation_p.S418L|ESRP1_uc003ygs.3_Missense_Mutation_p.S418L|ESRP1_uc003ygt.3_Missense_Mutation_p.S418L|ESRP1_uc003ygu.3_Missense_Mutation_p.S418L|ESRP1_uc003ygv.2_Missense_Mutation_p.S258L|ESRP1_uc003ygw.2_Missense_Mutation_p.S258L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	418					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						CGATTCTCCTCGGCCCCTCTC	0.428		NA											30	73					0	0	0	0
PTDSS1	9791	broad.mit.edu	37	8	97316403	97316403	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:97316403C>G	uc003yht.1	+	7	990	c.888C>G	c.(886-888)ATC>ATG	p.I296M	PTDSS1_uc003yhu.1_Missense_Mutation_p.I150M	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	296	Helical; (Potential).				phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCATGATCATCTGGCAGGTAT	0.378		NA											4	388					0	0	0	0
VPS13B	157680	broad.mit.edu	37	8	100654191	100654191	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:100654191G>T	uc003yiv.2	+	34	5559	c.5448G>T	c.(5446-5448)CAG>CAT	p.Q1816H	VPS13B_uc003yiw.2_Missense_Mutation_p.Q1791H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1816					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCCAGTCAGCATCGCATTG	0.413		NA											25	152					1.69e-08	1.76e-08	1	0
UBR5	51366	broad.mit.edu	37	8	103289202	103289202	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:103289202G>A	uc003ykr.1	-	45	6540	c.6507C>T	c.(6505-6507)TTC>TTT	p.F2169F	UBR5_uc003yks.1_Silent_p.F2169F	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2169					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCAAATACCTGAAAGATGTGA	0.383		NA											36	129					0	0	0	0
UBR5	51366	broad.mit.edu	37	8	103323529	103323529	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:103323529C>G	uc003ykr.1	-	20	2647	c.2614G>C	c.(2614-2616)GAG>CAG	p.E872Q	UBR5_uc003yks.1_Missense_Mutation_p.E872Q	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	872					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAAATTACCTCTACAGCCATG	0.333		NA											36	154					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110397821	110397821	+	Silent	SNP	T	T	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:110397821T>A	uc003yne.2	+	6	635	c.531T>A	c.(529-531)ATT>ATA	p.I177I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	177	Extracellular (Potential).|IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGTAATATTGCACTAAGCT	0.294		NA								HNSCC(38;0.096)			12	81					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476619	110476619	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:110476619G>C	uc003yne.2	+	49	7662	c.7558G>C	c.(7558-7560)GAT>CAT	p.D2520H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2520	PbH1 1.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATTATATATGATATTAAGGG	0.363		NA								HNSCC(38;0.096)			20	53					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113301749	113301749	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:113301749G>A	uc003ynu.2	-	57	9152	c.8993C>T	c.(8992-8994)CCT>CTT	p.P2998L	CSMD3_uc003yns.2_Missense_Mutation_p.P2200L|CSMD3_uc003ynt.2_Missense_Mutation_p.P2958L|CSMD3_uc011lhx.1_Missense_Mutation_p.P2829L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2998	Sushi 21.|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						AGGAACGCCAGGGTGTCCACA	0.393		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	47					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113421233	113421233	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:113421233C>T	uc003ynu.2	-	33	5583	c.5424G>A	c.(5422-5424)CAG>CAA	p.Q1808Q	CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Silent_p.Q1768Q|CSMD3_uc011lhx.1_Silent_p.Q1704Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1808	Extracellular (Potential).|CUB 10.					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						GGAGTGATGTCTGGAAAAATA	0.408		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			70	180					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:114290824C>T	uc003ynu.2	-	3	670	c.511G>A	c.(511-513)GAA>AAA	p.E171K	CSMD3_uc003ynt.2_Missense_Mutation_p.E131K|CSMD3_uc011lhx.1_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	171	Extracellular (Potential).|CUB 1.					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						CACTTACCTTCGTAATATACC	0.378		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	95					0	0	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184876	118184876	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:118184876G>C	uc003yoh.2	+	8	1296	c.1066G>C	c.(1066-1068)GAC>CAC	p.D356H	SLC30A8_uc010mcz.2_Missense_Mutation_p.D307H|SLC30A8_uc011lia.1_Missense_Mutation_p.D307H|SLC30A8_uc003yog.2_Missense_Mutation_p.D307H	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	356	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATCTCCAGTTGACCAGGACCC	0.507		NA											37	232					0	0	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449572	124449572	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:124449572G>C	uc003yqn.1	+	5	631	c.506G>C	c.(505-507)GGA>GCA	p.G169A	WDYHV1_uc011lij.1_Missense_Mutation_p.G109A|WDYHV1_uc003yqo.1_RNA	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	169					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)|skin(1)	2						ATTGAGACTGGAGGTGAGCCA	0.458		NA											7	69					0	0	0	0
FER1L6	654463	broad.mit.edu	37	8	125022951	125022951	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125022951C>A	uc003yqw.2	+	14	2024	c.1818C>A	c.(1816-1818)TTC>TTA	p.F606L	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	606	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGCAGACTTCCTGGTAGGTG	0.488		NA											9	407					0.000442599	0.000452143	1	0
FER1L6	654463	broad.mit.edu	37	8	125103812	125103812	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125103812G>A	uc003yqw.2	+	34	4746	c.4540G>A	c.(4540-4542)GAA>AAA	p.E1514K	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1514	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TATCTTCACTGAAGAGGACAC	0.403		NA											34	157					0	0	0	0
FER1L6	654463	broad.mit.edu	37	8	125131944	125131944	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125131944C>G	uc003yqw.2	+	41	5693	c.5487C>G	c.(5485-5487)TTC>TTG	p.F1829L	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1829	Helical; (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcattgctttcattctcatca	0.368		NA											62	270					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139190891	139190891	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:139190891C>G	uc003yuy.2	-	10	1087	c.916G>C	c.(916-918)GAT>CAT	p.D306H	FAM135B_uc003yux.2_Missense_Mutation_p.D207H|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	306										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGCCAGATCCTTGCTTATC	0.512		NA								HNSCC(54;0.14)			21	72					0	0	0	0
PTK2	5747	broad.mit.edu	37	8	141828403	141828403	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:141828403G>C	uc003yvu.2	-	10	1070	c.840C>G	c.(838-840)ATC>ATG	p.I280M	PTK2_uc003yvq.2_Translation_Start_Site|PTK2_uc003yvr.2_Missense_Mutation_p.I179M|PTK2_uc003yvs.2_Missense_Mutation_p.I280M|PTK2_uc003yvt.2_Missense_Mutation_p.I302M|PTK2_uc003yvv.2_Missense_Mutation_p.I167M|PTK2_uc011ljr.1_Missense_Mutation_p.I280M	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	280	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTAGGTAACTGATTCCTTCTT	0.438		NA											43	120					0	0	0	0
ARC	23237	broad.mit.edu	37	8	143695306	143695306	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:143695306G>C	uc003ywn.1	-	1	528	c.327C>G	c.(325-327)GTC>GTG	p.V109V		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	109					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCTCGCGCTTGACCCAGCGCT	0.682		NA											6	38					0	0	0	0
PUF60	22827	broad.mit.edu	37	8	144899226	144899226	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144899226G>C	uc003yzs.2	-	11	1298	c.1234C>G	c.(1234-1236)CTC>GTC	p.L412V	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.L352V|PUF60_uc003yzt.2_Missense_Mutation_p.L395V|PUF60_uc003yzq.2_Missense_Mutation_p.L369V|PUF60_uc003yzu.1_Missense_Mutation_p.L401V	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	412	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCTCCAGGAGACCCAGCGTT	0.622		NA											7	35					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144940991	144940991	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144940991C>T	uc003zaa.1	-	1	6444	c.6431G>A	c.(6430-6432)AGA>AAA	p.R2144K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2144						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTGTGTTCTATACATCCT	0.507		NA											74	387					0	0	0	0
ZNF250	58500	broad.mit.edu	37	8	146107829	146107829	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:146107829C>G	uc003zeq.3	-	6	871	c.754G>C	c.(754-756)GAG>CAG	p.E252Q	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E247Q|ZNF250_uc010mgg.2_Missense_Mutation_p.E247Q	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TAGGGCTTCTCACCTGTGTGA	0.483		NA											12	76					0	0	0	0
ZNF250	58500	broad.mit.edu	37	8	146108151	146108151	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:146108151C>T	uc003zeq.3	-	6	549	c.432G>A	c.(430-432)GTG>GTA	p.V144V	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.V139V|ZNF250_uc010mgg.2_Silent_p.V139V	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TCCCCAGAATCACTGTTTGCT	0.398		NA											7	417					0	0	0	0
DOCK8	81704	broad.mit.edu	37	9	376246	376246	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:376246G>A	uc003zgf.2	+	19	2258	c.2146G>A	c.(2146-2148)GAA>AAA	p.E716K	DOCK8_uc010mgu.2_Missense_Mutation_p.E18K|DOCK8_uc010mgv.2_Missense_Mutation_p.E648K|DOCK8_uc010mgw.1_Missense_Mutation_p.E18K|DOCK8_uc003zgk.2_Missense_Mutation_p.E174K|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	716					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAGTGGGCTGAAGGACATAA	0.378		NA											7	152					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:21971186G>A	uc003zpk.2	-	2	384	c.172C>T	c.(172-174)CGA>TGA	p.R58*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	58	ANK 2.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	6					0	0	0	0
DDX58	23586	broad.mit.edu	37	9	32500912	32500912	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:32500912C>A	uc003zra.2	-	2	290	c.132G>T	c.(130-132)GAG>GAT	p.E44D	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_5'UTR	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	44	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGTTGTTTTTCTCAGCCTGAA	0.438		NA											8	95					0.00307968	0.003127	1	0
NFX1	4799	broad.mit.edu	37	9	33366762	33366762	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:33366762A>T	uc003zsq.2	+	22	3236	c.3175A>T	c.(3175-3177)ACT>TCT	p.T1059S	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsr.2_Missense_Mutation_p.T1060S	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1059	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGTGGTGGTCACTGCCATCAG	0.458		NA											14	20					0	0	0	0
C9orf131	138724	broad.mit.edu	37	9	35043827	35043827	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:35043827G>C	uc003zvw.2	+	2	1230	c.1201G>C	c.(1201-1203)GAG>CAG	p.E401Q	C9orf131_uc003zvu.2_Missense_Mutation_p.E353Q|C9orf131_uc003zvv.2_Missense_Mutation_p.E328Q|C9orf131_uc003zvx.2_Missense_Mutation_p.E366Q	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	401											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACTCCAGAGAGAGAGTTCCCT	0.532		NA											4	153					0	0	0	0
PIGO	84720	broad.mit.edu	37	9	35092440	35092440	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:35092440G>C	uc003zwd.2	-	7	1840	c.1444C>G	c.(1444-1446)CTA>GTA	p.L482V	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.L45V	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	482	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCAGGAGTAGAGGGCAGAAT	0.582		NA											3	118					0	0	0	0
SHB	6461	broad.mit.edu	37	9	37974647	37974647	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:37974647C>G	uc004aax.2	-	3	1594	c.1026G>C	c.(1024-1026)TGG>TGC	p.W342C		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	342	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGACCCGGTTCCACTCCCAAG	0.657		NA											34	71					0	0	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69423576	69423576	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:69423576G>C	uc004afn.2	+	15	1984	c.1872G>C	c.(1870-1872)GTG>GTC	p.V624V	uc010mnx.1_5'Flank	NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	624	Potential.										0						GTGAAAGTGTGAAAACAGAAA	0.358		NA											25	72					0	0	0	0
PGM5	5239	broad.mit.edu	37	9	71094415	71094415	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71094415T>C	uc004agr.2	+	8	1470	c.1241T>C	c.(1240-1242)GTG>GCG	p.V414A		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	414					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						AAGCAGAGTGTGGAGGAAATT	0.522		NA											44	115					0	0	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509489	71509489	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71509489G>A	uc004agu.2	+	8	1011	c.706G>A	c.(706-708)GAA>AAA	p.E236K	PIP5K1B_uc011lrq.1_Missense_Mutation_p.E236K|PIP5K1B_uc004agv.2_RNA	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	236	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			stomach(1)	1				Lung(182;0.133)		AGACATGCACGAAGGGTTGTA	0.423		NA											44	135					0	0	0	0
PRKACG	5568	broad.mit.edu	37	9	71628520	71628520	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71628520G>A	uc004agy.2	-	1	520	c.489C>T	c.(487-489)CTC>CTT	p.L163L		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	163	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						CGCGGTGGATGAGGTCGAGCG	0.627		NA											8	23					0	0	0	0
APBA1	320	broad.mit.edu	37	9	72132030	72132030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:72132030C>T	uc004ahh.2	-	2	373	c.97G>A	c.(97-99)GAG>AAG	p.E33K		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	33					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TCTTCCACCTCGGGGTGCTCC	0.701		NA											7	3					0	0	0	0
TMEM2	23670	broad.mit.edu	37	9	74365160	74365160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:74365160G>A	uc011lsa.1	-	2	670	c.130C>T	c.(130-132)CAA>TAA	p.Q44*	TMEM2_uc010mos.2_Nonsense_Mutation_p.Q44*|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	44						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTGAAGCTTGACTCTTTGGA	0.507		NA											30	109					0	0	0	0
TMC1	117531	broad.mit.edu	37	9	75435903	75435903	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:75435903C>T	uc004aiz.1	+	20	2449	c.1909C>T	c.(1909-1911)CTG>TTG	p.L637L	TMC1_uc010moz.1_Silent_p.L595L|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.L491L|TMC1_uc010mpa.1_Silent_p.L491L	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	637	Helical; (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						TAACTTCTACCTGGGCATGCT	0.493		NA											107	249					0	0	0	0
VPS13A	23230	broad.mit.edu	37	9	79834959	79834959	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:79834959G>C	uc004akr.2	+	11	1104	c.844G>C	c.(844-846)GAG>CAG	p.E282Q	VPS13A_uc004akp.3_Missense_Mutation_p.E282Q|VPS13A_uc004akq.3_Missense_Mutation_p.E282Q|VPS13A_uc004aks.2_Missense_Mutation_p.E282Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	282					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CTTGGAAATTGAGTTACATAA	0.294		NA											37	85					0	0	0	0
TLE4	7091	broad.mit.edu	37	9	82323642	82323642	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:82323642C>G	uc004ald.2	+	14	2128	c.1279C>G	c.(1279-1281)CAG>GAG	p.Q427E	TLE4_uc004alc.2_Missense_Mutation_p.Q402E|TLE4_uc010mpr.2_Missense_Mutation_p.Q281E|TLE4_uc004ale.2_Missense_Mutation_p.Q39E|TLE4_uc011lsq.1_Missense_Mutation_p.Q370E|TLE4_uc010mps.2_Missense_Mutation_p.Q326E|TLE4_uc004alf.2_Missense_Mutation_p.Q341E	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						CATCTCCCCTCAGATGAGCGC	0.458		NA											19	41					0	0	0	0
TLE1	7088	broad.mit.edu	37	9	84205745	84205745	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:84205745C>G	uc004aly.2	-	16	2245	c.1804G>C	c.(1804-1806)GAT>CAT	p.D602H	TLE1_uc004alz.2_Missense_Mutation_p.D612H|TLE1_uc011lsr.1_Missense_Mutation_p.D587H|TLE1_uc004ama.1_Missense_Mutation_p.D601H	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	602	WD 3.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						TTGTGCAGATCCCACACAGCG	0.597		NA											46	130					0	0	0	0
FLJ46321	389763	broad.mit.edu	37	9	84605884	84605884	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:84605884G>C	uc004amn.2	+	4	546	c.499G>C	c.(499-501)GAG>CAG	p.E167Q		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	167						integral to membrane					0						TTCTGCGACTGAGTCATCGTT	0.552		NA											27	81					0	0	0	0
DAPK1	1612	broad.mit.edu	37	9	90321338	90321338	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:90321338G>A	uc004apc.2	+	26	3490	c.3352G>A	c.(3352-3354)GAT>AAT	p.D1118N	DAPK1_uc004apd.2_Missense_Mutation_p.D1118N|DAPK1_uc011ltg.1_Missense_Mutation_p.D1052N|DAPK1_uc011lth.1_Missense_Mutation_p.D855N|DAPK1_uc004apg.2_Missense_Mutation_p.D95N	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1118					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						CTCCTGGGCTGATGAGGAGGA	0.617		NA							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				10	33					0	0	0	0
C9orf47	286223	broad.mit.edu	37	9	91606129	91606129	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:91606129G>A	uc004aqd.2	+	1	352	c.219G>A	c.(217-219)CCG>CCA	p.P73P	S1PR3_uc004aqe.2_5'Flank|C9orf47_uc004aqc.1_Intron	NM_001001938	NP_001001938	Q6ZRZ4	CI047_HUMAN	hypothetical protein LOC286223 isoform 1	73						extracellular region					0						AACAGGGGCCGAAGGGCGAGC	0.468		NA											7	7					0	0	0	0
BICD2	23299	broad.mit.edu	37	9	95482755	95482755	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:95482755C>T	uc004aso.1	-	4	946	c.889G>A	c.(889-891)GAG>AAG	p.E297K	BICD2_uc004asp.1_Missense_Mutation_p.E297K	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	297					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						ACCAGGGCCTCGGCATCGTTG	0.612		NA											44	89					0	0	0	0
WNK2	65268	broad.mit.edu	37	9	96055302	96055302	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:96055302C>T	uc004ati.1	+	23	5666	c.5666C>T	c.(5665-5667)TCG>TTG	p.S1889L	WNK2_uc011lud.1_Missense_Mutation_p.S1852L|WNK2_uc004atj.2_Missense_Mutation_p.S1852L|WNK2_uc004atk.2_Missense_Mutation_p.S1489L|WNK2_uc004atl.1_Missense_Mutation_p.S446L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1889					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CGGGCCGGCTCGCTGGGCCCC	0.652		NA											19	28					0	0	0	0
ALDOB	229	broad.mit.edu	37	9	104192167	104192167	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:104192167G>A	uc004bbk.2	-	3	276	c.194C>T	c.(193-195)TCT>TTT	p.S65F		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	65					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				ACTGTCCACAGAGAAGAGGAT	0.547		NA											73	196					0	0	0	0
ABCA1	19	broad.mit.edu	37	9	107578492	107578492	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:107578492C>T	uc004bcl.2	-	25	3983	c.3670G>A	c.(3670-3672)GAG>AAG	p.E1224K		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1224					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCATCAATCTCATGAAAGAGT	0.493		NA											100	252					0	0	0	0
ZNF462	58499	broad.mit.edu	37	9	109691062	109691062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:109691062G>A	uc004bcz.2	+	3	5158	c.4869G>A	c.(4867-4869)ATG>ATA	p.M1623I	ZNF462_uc010mto.2_Missense_Mutation_p.M1471I|ZNF462_uc004bda.2_Missense_Mutation_p.M1471I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1623					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGCCCGAGATGACCACTGAAG	0.547		NA											34	131					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113168843	113168843	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:113168843C>G	uc010mtz.2	-	38	9374	c.9037G>C	c.(9037-9039)GAA>CAA	p.E3013Q	SVEP1_uc010mty.2_Missense_Mutation_p.E939Q	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3013	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GTTCCATATTCAATTACTGGT	0.488		NA											11	40					0	0	0	0
ZNF483	158399	broad.mit.edu	37	9	114304423	114304423	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:114304423C>G	uc004bff.2	+	6	1432	c.1208C>G	c.(1207-1209)TCA>TGA	p.S403*	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	403					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						ATTAGAAGATCAACTCTTTCT	0.393		NA											71	156					0	0	0	0
SUSD1	64420	broad.mit.edu	37	9	114886646	114886646	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:114886646G>A	uc004bfu.2	-	6	818	c.777C>T	c.(775-777)GGC>GGT	p.G259G	SUSD1_uc010mui.2_Silent_p.G259G|SUSD1_uc010muj.2_Silent_p.G259G	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	259	Sushi 2.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						GAGCCACACCGCCCAGCCTGG	0.517		NA											19	69					0	0	0	0
SNX30	401548	broad.mit.edu	37	9	115567235	115567235	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:115567235G>A	uc004bgj.3	+	2	484	c.336G>A	c.(334-336)AGG>AGA	p.R112R		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	112	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						TCACCTATAGGATCACCACCA	0.453		NA											4	234					0	0	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123173693	123173693	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:123173693G>C	uc004bkf.2	-	29	4538	c.4357C>G	c.(4357-4359)CAT>GAT	p.H1453D	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.H462D|CDK5RAP2_uc004bke.2_Missense_Mutation_p.H738D|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.H1453D|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.H718D|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.H718D|CDK5RAP2_uc011lya.1_Missense_Mutation_p.H718D|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.H1223D|CDK5RAP2_uc004bki.2_Missense_Mutation_p.H1220D	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1453					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CTCAAGAAATGAATTTCTGAT	0.398		NA											6	206					0	0	0	0
RC3H2	54542	broad.mit.edu	37	9	125642045	125642045	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:125642045C>G	uc010mwc.1	-	8	1442	c.1201G>C	c.(1201-1203)GAG>CAG	p.E401Q	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.E401Q|RC3H2_uc004bne.3_Missense_Mutation_p.E401Q|RC3H2_uc011lzf.1_Missense_Mutation_p.E138Q|RC3H2_uc011lzg.1_Missense_Mutation_p.E401Q	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	401						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						TGAGGGGTCTCATGGCCTTTT	0.393		NA											20	62					0	0	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128268677	128268677	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:128268677C>T	uc004bpv.2	-	8	1311	c.978G>A	c.(976-978)GAG>GAA	p.E326E	MAPKAP1_uc011lzt.1_Silent_p.E129E|MAPKAP1_uc010mwz.2_Intron|MAPKAP1_uc011lzu.1_Silent_p.E129E|MAPKAP1_uc011lzv.1_Intron|MAPKAP1_uc004bpw.2_Silent_p.E134E|MAPKAP1_uc004bpx.2_Silent_p.E134E|MAPKAP1_uc004bpy.2_Intron|MAPKAP1_uc004bpz.2_Silent_p.E326E|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.E129E	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	326					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						CGCTCTGCTTCTCCAGGCGGT	0.552		NA											35	107					0	0	0	0
ODF2	4957	broad.mit.edu	37	9	131231605	131231605	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:131231605G>A	uc011mbd.1	+	5	704	c.393G>A	c.(391-393)ATG>ATA	p.M131I	ODF2_uc011maz.1_Missense_Mutation_p.M131I|ODF2_uc011mba.1_Intron|ODF2_uc010myb.2_Missense_Mutation_p.M107I|ODF2_uc011mbb.1_Missense_Mutation_p.M65I|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Missense_Mutation_p.M84I|ODF2_uc004bvb.2_Missense_Mutation_p.M107I|ODF2_uc011mbe.1_Missense_Mutation_p.M126I|ODF2_uc004bvc.2_Missense_Mutation_p.M107I|ODF2_uc010myc.2_Intron|ODF2_uc011mbf.1_Missense_Mutation_p.M112I|ODF2_uc004bvd.3_Missense_Mutation_p.M131I|ODF2_uc004bve.2_Missense_Mutation_p.M112I	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	131					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						ATAGTCTAATGAATGCGGTTG	0.488		NA											51	205					0	0	0	0
MED27	9442	broad.mit.edu	37	9	134952852	134952852	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:134952852G>C	uc004cbe.1	-	2	347	c.325C>G	c.(325-327)CAA>GAA	p.Q109E	MED27_uc004cbf.1_Missense_Mutation_p.Q109E|MED27_uc011mco.1_Missense_Mutation_p.Q109E|MED27_uc004cbg.3_Missense_Mutation_p.Q109E	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	109					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTATATGCTTGAAGGAGTTGA	0.413		NA											10	286					0	0	0	0
TTF1	7270	broad.mit.edu	37	9	135277284	135277284	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:135277284C>G	uc004cbl.2	-	2	977	c.925G>C	c.(925-927)GAA>CAA	p.E309Q	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	309					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGCCGGGATTCCTGCATATCA	0.448		NA											5	319					0	0	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138719360	138719360	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:138719360G>A	uc004cgr.3	-	8	1116	c.1116C>T	c.(1114-1116)TTC>TTT	p.F372F	CAMSAP1_uc004cgq.3_Silent_p.F262F|CAMSAP1_uc010nbg.2_Silent_p.F94F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	372						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCTGCCTAGGAAACTGCGTT	0.597		NA											11	37					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139417620	139417620	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139417620C>G	uc004chz.2	-	4	424	c.424G>C	c.(424-426)GAC>CAC	p.D142H		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	142	Extracellular (Potential).|EGF-like 4.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGCACGGGTCAGCCTGCTGG	0.682		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			6	12					0	0	0	0
C9orf86	55684	broad.mit.edu	37	9	139720263	139720263	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139720263G>A	uc004cji.1	+	3	566	c.298G>A	c.(298-300)GAT>AAT	p.D100N	C9orf86_uc004cjm.2_Missense_Mutation_p.D100N|C9orf86_uc004cjh.2_Missense_Mutation_p.D100N|C9orf86_uc004cjj.1_Missense_Mutation_p.D100N|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.D100N|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_5'UTR	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	100	Small GTPase-like.|GTP (Potential).				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		TGAAGTCTGGGATGTAGTAGA	0.532		NA											6	338					0	0	0	0
ABCA2	20	broad.mit.edu	37	9	139909403	139909403	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139909403C>T	uc011mem.1	-	24	3989	c.3841G>A	c.(3841-3843)GAG>AAG	p.E1281K	ABCA2_uc011mel.1_Missense_Mutation_p.E1282K|ABCA2_uc004ckl.1_Missense_Mutation_p.E1212K|ABCA2_uc004ckm.1_Missense_Mutation_p.E1312K|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1281					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGGCGGCCTCGCTGGGCAGG	0.662		NA											11	23					0	0	0	0
SLC25A6	293	broad.mit.edu	37	X	1508132	1508132	+	Splice_Site	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:1508132A>G	uc004cpt.2	-	2	694	c.598_splice	c.e2+1	p.G200_splice	SLC25A6_uc004cpu.2_Splice_Site	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3						active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	agccACACGTACCCTTGGCCG	0.338		NA											9	108					0	0	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069472	6069472	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:6069472C>T	uc010ndh.2	-	2	537	c.36G>A	c.(34-36)TTG>TTA	p.L12L	NLGN4X_uc004crp.2_Silent_p.L12L|NLGN4X_uc004crq.2_Silent_p.L12L|NLGN4X_uc010ndi.2_Silent_p.L12L|NLGN4X_uc004crr.2_Silent_p.L12L|NLGN4X_uc010ndj.2_Silent_p.L12L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	12					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GGGTGAACAACAAAGGAAGCC	0.522		NA											19	26					0	0	0	0
SHROOM2	357	broad.mit.edu	37	X	9900879	9900879	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:9900879C>G	uc004csu.1	+	6	3646	c.3556C>G	c.(3556-3558)CCC>GCC	p.P1186A	SHROOM2_uc004csv.2_Missense_Mutation_p.P21A|SHROOM2_uc011mic.1_Missense_Mutation_p.P21A|SHROOM2_uc004csw.1_Missense_Mutation_p.P21A	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1186					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)				GGACAAACCTCCCCTGCTCAT	0.637		NA											18	15					0	0	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999220	27999220	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:27999220C>G	uc004dbx.1	-	1	347	c.232G>C	c.(232-234)GAC>CAC	p.D78H		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	78	Glu-rich.									ovary(3)|skin(1)	4						AGTTCGACGTCTTCACTTGAA	0.398		NA											46	62					0	0	0	0
CXorf21	80231	broad.mit.edu	37	X	30578276	30578276	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:30578276G>C	uc004dcg.1	-	3	473	c.197C>G	c.(196-198)TCT>TGT	p.S66C		NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	hypothetical protein LOC80231	66										ovary(1)	1						ATGCACTGAAGAGATAAACTT	0.458		NA											110	98					0	0	0	0
CXorf22	170063	broad.mit.edu	37	X	35974208	35974208	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:35974208C>G	uc004ddj.2	+	8	1364	c.1305C>G	c.(1303-1305)ATC>ATG	p.I435M	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	435										large_intestine(1)|lung(1)|ovary(1)	3						TTCAGTGCATCATAAAAAATC	0.378		NA											44	34					0	0	0	0
DGKK	139189	broad.mit.edu	37	X	50167295	50167295	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:50167295C>G	uc010njr.1	-	2	767	c.707G>C	c.(706-708)AGA>ACA	p.R236T		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	236	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					CAGAAAATATCTAAGCTTCCA	0.403		NA											12	26					0	0	0	0
WNK3	65267	broad.mit.edu	37	X	54324818	54324818	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:54324818G>C	uc004dtd.1	-	7	1627	c.1188C>G	c.(1186-1188)ATC>ATG	p.I396M	WNK3_uc004dtc.1_Missense_Mutation_p.I396M	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	396	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						ATAGGTCCCTGATAGACAACC	0.333		NA											46	26					0	0	0	0
ALAS2	212	broad.mit.edu	37	X	55039985	55039985	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:55039985C>G	uc004dua.3	-	10	1672	c.1534G>C	c.(1534-1536)GGT>CGT	p.G512R	ALAS2_uc004dub.3_Missense_Mutation_p.G499R|ALAS2_uc004dud.3_Missense_Mutation_p.G475R	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	512					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	AGCTCTTCACCCCGGGGGACA	0.572		NA											17	44					0	0	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69420191	69420191	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:69420191C>A	uc004dxx.1	+	4	451	c.354C>A	c.(352-354)ATC>ATA	p.I118I		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	118	Helical; (Potential).				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)	1						GTGTCTTCATCAACTTTGCCA	0.463		NA											37	39					3.66e-28	3.93e-28	1	0
OGT	8473	broad.mit.edu	37	X	70776821	70776821	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:70776821G>A	uc004eaa.1	+	10	1403	c.1186G>A	c.(1186-1188)GAT>AAT	p.D396N	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.D386N|OGT_uc004eac.2_Missense_Mutation_p.D257N|OGT_uc004ead.2_Missense_Mutation_p.D15N	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	396	TPR 11.				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TACCTTTGCTGATGCCTACTC	0.393		NA											35	24					0	0	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961334	73961334	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:73961334C>T	uc004eby.2	-	3	3675	c.3058G>A	c.(3058-3060)GAT>AAT	p.D1020N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1020					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						GTGATATCATCATCGCCATCC	0.473		NA											43	49					0	0	0	0
ABCB7	22	broad.mit.edu	37	X	74288934	74288934	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:74288934C>T	uc004eca.2	-	12	1592	c.1567G>A	c.(1567-1569)GAG>AAG	p.E523K	ABCB7_uc004ebz.2_Missense_Mutation_p.E524K|ABCB7_uc011mqn.1_Missense_Mutation_p.E497K|ABCB7_uc010nls.2_Missense_Mutation_p.E484K|ABCB7_uc010nlt.2_Missense_Mutation_p.E483K	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	523	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						TTTTGAGGCTCATAGAAGCGA	0.403		NA											70	61					0	0	0	0
ATRX	546	broad.mit.edu	37	X	76891448	76891448	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:76891448G>C	uc004ecp.3	-	16	4889	c.4657C>G	c.(4657-4659)CAT>GAT	p.H1553D	ATRX_uc004ecq.3_Missense_Mutation_p.H1515D|ATRX_uc004eco.3_Missense_Mutation_p.H1338D	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1553					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATATTTCTATGAACCTGCACT	0.323		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						27	14					0	0	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913599	77913599	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:77913599C>T	uc004edc.1	-	2	615	c.319G>A	c.(319-321)GAG>AAG	p.E107K		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	107	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(1)	1						GCTGGGGCCTCCTGGAGTTCC	0.637		NA											8	13					0	0	0	0
BRWD3	254065	broad.mit.edu	37	X	79999617	79999617	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:79999617C>T	uc004edt.2	-	8	990	c.727G>A	c.(727-729)GAT>AAT	p.D243N	BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.D72N|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	243	WD 3.									ovary(4)	4						ACTACCTTATCACAGCTGCCT	0.443		NA											52	42					0	0	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139594	101139594	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:101139594C>G	uc004eim.2	-	2	3790	c.292G>C	c.(292-294)GAA>CAA	p.E98Q	ZMAT1_uc011mrl.1_Missense_Mutation_p.E269Q|ZMAT1_uc004ein.2_Missense_Mutation_p.E98Q|ZMAT1_uc011mrm.1_Missense_Mutation_p.E98Q	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	98						nucleus	zinc ion binding			ovary(1)	1						AGTCTTTGTTCAAACATTCTA	0.413		NA											80	56					0	0	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382452	101382452	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:101382452C>T	uc004eip.2	+	3	869	c.650C>T	c.(649-651)CCA>CTA	p.P217L		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TGCAGGGCCCCACGAAGGGAC	0.473		NA											46	73					0	0	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528931	102528931	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:102528931C>G	uc004ejz.1	-	3	856	c.561G>C	c.(559-561)GTG>GTC	p.V187V		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						TCACTCCCCTCACACCCCGTT	0.408		NA											49	63					0	0	0	0
PLP1	5354	broad.mit.edu	37	X	103041593	103041593	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103041593C>G	uc010nov.2	+	4	671	c.391C>G	c.(391-393)CAA>GAA	p.Q131E	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.Q131E|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.Q76E|PLP1_uc010now.1_Missense_Mutation_p.Q135E|PLP1_uc010nox.2_Missense_Mutation_p.Q85E	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	131	Cytoplasmic (Probable).		Missing (in HLD1).		cell death|synaptic transmission	integral to membrane				ovary(1)	1						AGGCCAACATCAAGCTCATTC	0.542		NA											89	87					0	0	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267305	103267305	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103267305G>A	uc004elr.2	-	2	531	c.507C>T	c.(505-507)GCC>GCT	p.A169A		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	169					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						gttgctgtatggcatacagtg	0.189		NA											23	85					0	0	0	0
ESX1	80712	broad.mit.edu	37	X	103499187	103499187	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103499187C>G	uc004ely.2	-	2	212	c.154G>C	c.(154-156)GAG>CAG	p.E52Q		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	52					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTTCCGTACTCAGGTTTGGAC	0.587		NA											119	130					0	0	0	0
DOCK11	139818	broad.mit.edu	37	X	117773418	117773418	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:117773418C>G	uc004eqp.2	+	38	4085	c.4022C>G	c.(4021-4023)TCA>TGA	p.S1341*	DOCK11_uc004eqq.2_Nonsense_Mutation_p.S1120*	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1341					blood coagulation	cytosol	GTP binding			ovary(3)	3						GCCTGGCTGTCAAAACACTTC	0.393		NA											3	91					0	0	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220824	118220824	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:118220824C>T	uc004era.3	-	11	4369	c.4369G>A	c.(4369-4371)GAT>AAT	p.D1457N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1457										ovary(4)|skin(1)	5						TTATTACCATCACCACTCTCA	0.453		NA											31	32					0	0	0	0
BCORL1	63035	broad.mit.edu	37	X	129147430	129147430	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:129147430C>T	uc004evb.1	+	4	796	c.682C>T	c.(682-684)CCT>TCT	p.P228S	BCORL1_uc010nrd.1_Missense_Mutation_p.P130S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	228	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CCTCTCCGTCCCTGCCCCAGT	0.622		NA											5	178					0	0	0	0
IDS	3423	broad.mit.edu	37	X	148577955	148577955	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148577955C>G	uc011mxe.1	-	6	999	c.801G>C	c.(799-801)TGG>TGC	p.W267C	IDS_uc011mxf.1_Missense_Mutation_p.W177C|IDS_uc011mxg.1_Missense_Mutation_p.W56C|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.W56C|IDS_uc011mxh.1_Missense_Mutation_p.W267C|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	267						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGATGTCCATCCAGGGGTTGT	0.542		NA											6	187					0	0	0	0
IDS	3423	broad.mit.edu	37	X	148586602	148586602	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148586602G>A	uc011mxe.1	-	1	264	c.66C>T	c.(64-66)GTC>GTT	p.V22V	IDS_uc011mxf.1_5'UTR|IDS_uc011mxg.1_5'UTR|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Silent_p.V22V|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Silent_p.V22V	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	22						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATCCGAGGGCGACGCAGACGG	0.532		NA											17	24					0	0	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798247	148798247	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148798247G>C	uc004fdq.2	+	5	1203	c.1101G>C	c.(1099-1101)AAG>AAC	p.K367N	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.K338N	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	367	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGCAGGAAAAGTACCTGGTGT	0.557		NA											92	96					0	0	0	0
PLXNA3	55558	broad.mit.edu	37	X	153693806	153693806	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:153693806G>A	uc004flm.2	+	12	2457	c.2284G>A	c.(2284-2286)GAC>AAC	p.D762N		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	762	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCGAGCTGGACTTCTCCGT	0.552		NA											56	40					0	0	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15028313	15028313	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrY:15028313C>A	uc004fsu.1	+	14	1759	c.1450C>A	c.(1450-1452)CAG>AAG	p.Q484K	DDX3Y_uc004fsv.2_Missense_Mutation_p.Q484K|DDX3Y_uc010nww.1_Missense_Mutation_p.Q300K|DDX3Y_uc011nar.1_Missense_Mutation_p.Q481K	NM_001122665	NP_001116137	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 3,	484	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding				0						GGCCCTTCACCAGTTTCGCTC	0.398		NA											14	161					0.00316338	0.00321069	1	0
USH2A	7399	broad.mit.edu	37	1	216498758	216498758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:216498758delA	uc001hku.1	-	6	1419	c.1032delT	c.(1030-1032)TTTfs	p.F344fs	USH2A_uc001hkv.2_Frame_Shift_Del_p.F344fs	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	344	Laminin N-terminal.|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)		TATCATTGACAAAAGAGAGAG	0.408		NA								HNSCC(13;0.011)			48	116	---	---	---	---	NA	NA	NA	NA
DPAGT1	1798	broad.mit.edu	37	11	118971068	118971069	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118971068_118971069insA	uc001pvi.2	-	4	966_967	c.546_547insT	c.(544-549)AATGCCfs	p.N182fs	DPAGT1_uc001pvj.2_Frame_Shift_Ins_p.N75fs|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Frame_Shift_Ins_p.N10fs|DPAGT1_uc010ryz.1_Frame_Shift_Ins_p.N182fs|DPAGT1_uc001pvm.1_Frame_Shift_Ins_p.N75fs|DPAGT1_uc010rza.1_Frame_Shift_Ins_p.N75fs	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	182_183	Helical; (Potential).				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATATTGATGGCATTGGTACAGA	0.5		NA									OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	124	---	---	---	---	NA	NA	NA	NA
FUS	2521	broad.mit.edu	37	16	31193962	31193962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:31193962delC	uc002ebf.2	+	3	250	c.167delC	c.(166-168)TCTfs	p.S56fs	FUS_uc002ebe.1_Frame_Shift_Del_p.S56fs|FUS_uc002ebh.2_Frame_Shift_Del_p.S56fs|FUS_uc002ebg.2_5'UTR|FUS_uc002ebi.2_Frame_Shift_Del_p.S56fs|FUS_uc002ebj.2_5'UTR|FUS_uc010vfi.1_Frame_Shift_Del_p.S56fs	NM_004960	NP_004951	P35637	FUS_HUMAN	fusion (involved in t(12;16) in malignant	56	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AGCAGCTATTCTTCTTATGGC	0.448		NA	T	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1	liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma								7	213	---	---	---	---	NA	NA	NA	NA
TMEM132E	124842	broad.mit.edu	37	17	32962027	32962027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:32962027delG	uc002hif.2	+	8	1956	c.1628delG	c.(1627-1629)CGGfs	p.R543fs		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	543	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GACTTCATGCGGGTGGGCGAT	0.617		NA											23	80	---	---	---	---	NA	NA	NA	NA
ACSF2	80221	broad.mit.edu	37	17	48551078	48551082	+	Frame_Shift_Del	DEL	AAGGA	AAGGA	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48551078_48551082delAAGGA	uc002iqu.2	+	13	1632_1636	c.1528_1532delAAGGA	c.(1528-1533)AAGGATfs	p.K510fs	ACSF2_uc010wml.1_Frame_Shift_Del_p.K467fs|ACSF2_uc010wmm.1_Frame_Shift_Del_p.K535fs|ACSF2_uc010wmn.1_Frame_Shift_Del_p.K497fs|ACSF2_uc010wmo.1_Frame_Shift_Del_p.K350fs|ACSF2_uc010dbt.1_Frame_Shift_Del_p.K14fs	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	510_511					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGCCGCTCTAAGGATATGATCATC	0.551		NA											36	153	---	---	---	---	NA	NA	NA	NA
SIGLEC14	100049587	broad.mit.edu	37	19	52149128	52149129	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52149128_52149129insG	uc002pxf.3	-	3	726_727	c.606_607insC	c.(604-609)CCCAGGfs	p.P202fs		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14 precursor	202_203	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			ovary(1)	1		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCCTCGGGCCTGGGGGTGAGGG	0.634		NA											10	49	---	---	---	---	NA	NA	NA	NA
PLXNA1	5361	broad.mit.edu	37	3	126736358	126736358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:126736358delC	uc003ejg.2	+	17	3302	c.3298delC	c.(3298-3300)CCGfs	p.P1100fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1123	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GGGGGAGCGGCCGGATGAGCT	0.637		NA											84	167	---	---	---	---	NA	NA	NA	NA
DCHS2	54798	broad.mit.edu	37	4	155155862	155155862	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:155155862delG	uc003inw.2	-	25	8577	c.8577delC	c.(8575-8577)CCCfs	p.P2859fs		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2859					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGATGGTAGGGGATGGGAG	0.542		NA											47	189	---	---	---	---	NA	NA	NA	NA
EPPK1	83481	broad.mit.edu	37	8	144942429	144942435	+	Frame_Shift_Del	DEL	GGAAGAG	GGAAGAG	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144942429_144942435delGGAAGAG	uc003zaa.1	-	1	5000_5006	c.4987_4993delCTCTTCC	c.(4987-4995)CTCTTCCAGfs	p.L1663fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1663_1665	Plectin 28.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCATGGCCTGGAAGAGGGAGATCTGC	0.647		NA											22	161	---	---	---	---	NA	NA	NA	NA
DDX3X	1654	broad.mit.edu	37	X	41196718	41196719	+	Splice_Site	INS	-	-	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:41196718_41196719insG	uc004dfe.2	+	2	958	c.103_splice	c.e2+1	p.K35_splice	DDX3X_uc004dfd.1_Splice_Site|DDX3X_uc010nhf.1_Splice_Site_p.S35_splice|DDX3X_uc004dff.2_Splice_Site_p.K35_splice|DDX3X_uc011mkq.1_Splice_Site_p.S35_splice|DDX3X_uc011mkr.1_Splice_Site_p.K35_splice|DDX3X_uc011mks.1_Splice_Site_p.K35_splice|DDX3X_uc004dfg.2_Splice_Site|DDX3X_uc011mkt.1_Splice_Site	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3						interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TACAGCCAGCAGTAAGTACAAC	0.371		NA								HNSCC(61;0.18)			35	49	---	---	---	---	NA	NA	NA	NA
VSIG4	11326	broad.mit.edu	37	X	65242121	65242121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:65242121delC	uc004dwh.2	-	8	1311	c.1184delG	c.(1183-1185)GGCfs	p.G395fs	VSIG4_uc004dwi.2_Frame_Shift_Del_p.G301fs|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	395	Cytoplasmic (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						GACACTTTTGCCCTCAGTGGC	0.512		NA											39	28	---	---	---	---	NA	NA	NA	NA
HEPH	9843	broad.mit.edu	37	X	65479995	65479995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:65479995delG	uc011moz.1	+	19	3159	c.3099delG	c.(3097-3099)GAGfs	p.E1033fs	HEPH_uc004dwn.2_Frame_Shift_Del_p.E1033fs|HEPH_uc004dwo.2_Frame_Shift_Del_p.E763fs|HEPH_uc010nkr.2_Frame_Shift_Del_p.E841fs|HEPH_uc011mpa.1_Frame_Shift_Del_p.E1033fs	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	1030	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GGACTTTTGAGGTTGTGGAGA	0.517		NA											38	43	---	---	---	---	NA	NA	NA	NA