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
KIAA2013	90231	broad.mit.edu	37	1	11983424	11983424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:11983424C>T	uc001atk.2	-	2	1350	c.1156G>A	c.(1156-1158)GAG>AAG	p.E386K	KIAA2013_uc001atl.1_Missense_Mutation_p.E386K	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	hypothetical protein LOC90231 precursor	386	Extracellular (Potential).					integral to membrane				ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCTCGCTCCCTGTGGCTC	0.637		NA											5	75					0	0	0	0
VPS13D	55187	broad.mit.edu	37	1	12304423	12304423	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:12304423A>G	uc001atv.2	+	4	437	c.296A>G	c.(295-297)GAT>GGT	p.D99G	VPS13D_uc001atw.2_Missense_Mutation_p.D99G	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	99					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATTTCAATGATGAAAAGGAG	0.478		NA											26	61					0	0	0	0
RUNX3	864	broad.mit.edu	37	1	25245773	25245773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:25245773G>A	uc001bjq.2	-	3	913	c.502C>T	c.(502-504)CGA>TGA	p.R168*	RUNX3_uc010oen.1_Nonsense_Mutation_p.R168*|RUNX3_uc009vrj.2_Nonsense_Mutation_p.R182*|RUNX3_uc001bjr.2_Nonsense_Mutation_p.R182*	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	168	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TTGATGGCTCGGTGGTAGGTC	0.652		NA											10	62					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27088729	27088729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:27088729C>T	uc001bmv.1	+	7	2711	c.2338C>T	c.(2338-2340)CAG>TAG	p.Q780*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q780*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q780*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q397*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	780					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)		TTCCGGAGGACAGATACACAC	0.577		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								22	70					0	0	0	0
INADL	10207	broad.mit.edu	37	1	62321821	62321821	+	Silent	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:62321821T>C	uc001dab.2	+	18	2346	c.2232T>C	c.(2230-2232)TGT>TGC	p.C744C	INADL_uc009waf.1_Silent_p.C744C|INADL_uc001daa.2_Silent_p.C744C|INADL_uc001dad.3_Silent_p.C441C|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	744	PDZ 5.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						ATGAATACTGTTTGGACAACA	0.493		NA											42	76					0	0	0	0
SASS6	163786	broad.mit.edu	37	1	100550935	100550935	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:100550935C>T	uc001dsu.2	-	17	2064	c.1923G>A	c.(1921-1923)GCG>GCA	p.A641A	SASS6_uc009wdz.2_Silent_p.A474A	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	641					centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAGAGGGGAGCGCTGTGGGTT	0.408		NA											54	117					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:145302714A>G	uc001end.3	+	8	1187	c.1152A>G	c.(1150-1152)TTA>TTG	p.L384L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527		NA											6	61					0	0	0	0
FLAD1	80308	broad.mit.edu	37	1	154962992	154962992	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:154962992C>T	uc001fgf.1	+	5	1896	c.1542C>T	c.(1540-1542)ATC>ATT	p.I514I	FLAD1_uc001fgd.1_3'UTR|FLAD1_uc001fge.1_Silent_p.I417I|FLAD1_uc001fgg.1_Silent_p.I417I|FLAD1_uc001fgh.1_Intron	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	514	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCATGCGCATCAACCCACTGC	0.607		NA											7	28					0	0	0	0
TMCO1	54499	broad.mit.edu	37	1	165721337	165721337	+	Splice_Site	SNP	A	A	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:165721337A>G	uc001gdj.3	-	5	472	c.323_splice	c.e5+1	p.I108_splice	TMCO1_uc001gdl.3_Splice_Site_p.I24_splice|TMCO1_uc001gdm.3_Splice_Site_p.I24_splice|TMCO1_uc001gdk.3_Splice_Site_p.I96_splice|TMCO1_uc001gdn.3_Splice_Site	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AAGGACACTCACATGGAATTG	0.274		NA											5	62					0	0	0	0
C1orf35	79169	broad.mit.edu	37	1	228288911	228288911	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:228288911C>A	uc001hrx.2	-	8	807	c.713G>T	c.(712-714)TGT>TTT	p.C238F	C1orf35_uc009xew.2_RNA	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	hypothetical protein LOC79169	238											0		Prostate(94;0.0488)				CCTCCTCTTACAGCAGGGGGA	0.647		NA											28	25					2.49e-11	2.82e-11	1	0
OR2L13	284521	broad.mit.edu	37	1	248262831	248262831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:248262831C>T	uc001ids.2	+	3	491	c.154C>T	c.(154-156)CCT>TCT	p.P52S		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCACGTGGATCCTCGTCTCCA	0.498		NA											17	137					0	0	0	0
CDH23	64072	broad.mit.edu	37	10	73569779	73569779	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:73569779C>T	uc001jrx.3	+	59	9302	c.8925C>T	c.(8923-8925)TTC>TTT	p.F2975F	CDH23_uc001jsg.3_Silent_p.F735F|CDH23_uc001jsh.3_Silent_p.F735F|CDH23_uc001jsi.3_Silent_p.F735F|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2975	Cadherin 27.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						AGGAGGAGTTCATCCACCTGC	0.602		NA											26	102					0	0	0	0
TAF5	6877	broad.mit.edu	37	10	105139408	105139408	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:105139408T>G	uc001kwv.2	+	4	1180	c.1157T>G	c.(1156-1158)TTG>TGG	p.L386W	TAF5_uc010qqq.1_Missense_Mutation_p.L386W	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	386					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAGGTACCTTTGGATGACGAG	0.303		NA											9	49					0	0	0	0
CNGA4	1262	broad.mit.edu	37	11	6262969	6262969	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:6262969C>A	uc001mco.2	+	5	1333	c.1226C>A	c.(1225-1227)GCA>GAA	p.A409E	CNGA4_uc010raa.1_Missense_Mutation_p.A178E|CNGA4_uc001mcn.2_Missense_Mutation_p.A369E	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	409	cNMP.|Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCTCGGTGCAGGGCTCTAC	0.537		NA											39	152					2.25e-16	2.62e-16	1	0
USH1C	10083	broad.mit.edu	37	11	17548774	17548774	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:17548774C>T	uc001mnf.2	-	5	601	c.492G>A	c.(490-492)GTG>GTA	p.V164V	USH1C_uc001mne.2_Silent_p.V164V|USH1C_uc009yhb.2_Silent_p.V164V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.V128V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	164	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						ACTCACGTCTCACTTTGATGG	0.353		NA											19	65					0	0	0	0
FRMD8	83786	broad.mit.edu	37	11	65161133	65161133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:65161133G>A	uc001odu.3	+	4	535	c.343G>A	c.(343-345)GAC>AAC	p.D115N	FRMD8_uc009yqj.2_Missense_Mutation_p.D59N|FRMD8_uc010rof.1_Intron	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	115	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						CCCAGACGATGACGTGGCCAT	0.652		NA											5	24					0	0	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635459	65635459	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:65635459A>T	uc001ofy.3	-	10	1237	c.1043T>A	c.(1042-1044)ATG>AAG	p.M348K	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.M348K	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	348					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GGTGATGGTCATGTAGCGGTG	0.612		NA											5	86					0	0	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120352148	120352148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:120352148G>A	uc001pxl.1	+	39	4424	c.4417G>A	c.(4417-4419)GAA>AAA	p.E1473K	ARHGEF12_uc009zau.1_Missense_Mutation_p.E1370K	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1473					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTCACCCCCGAATTTCTGGT	0.532		NA	T	MLL	AML								22	65					0	0	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142708	48142708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:48142708C>A	uc009zkp.2	-	10	1362	c.922G>T	c.(922-924)GAG>TAG	p.E308*	RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Nonsense_Mutation_p.E308*|RAPGEF3_uc001rpz.3_Nonsense_Mutation_p.E350*|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Nonsense_Mutation_p.E362*	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	308					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTCTTTGCCTCCACATCCTGG	0.592		NA											30	93					3.99e-17	4.68e-17	1	0
GEFT	115557	broad.mit.edu	37	12	58008471	58008471	+	Splice_Site	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:58008471G>T	uc001spb.2	+	9	1277	c.817_splice	c.e9-1	p.E273_splice	GEFT_uc009zpy.2_Splice_Site_p.E312_splice|GEFT_uc001soz.1_Splice_Site_p.E147_splice|GEFT_uc001spa.2_Splice_Site_p.E167_splice|uc001spc.2_Intron|GEFT_uc001spd.2_Translation_Start_Site	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1						regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					CCTGTCCCCAGGAGCTCCGGC	0.587		NA											4	35					0.00909568	0.0097075	1	0
SART3	9733	broad.mit.edu	37	12	108917341	108917341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:108917341G>C	uc001tmz.1	-	19	3020	c.2785C>G	c.(2785-2787)CAG>GAG	p.Q929E	SART3_uc001tmy.1_Missense_Mutation_p.Q455E|SART3_uc009zux.1_Missense_Mutation_p.Q541E|SART3_uc010swx.1_Missense_Mutation_p.Q893E	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	929					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						TTCTCAGCCTGAGGAGCTGCA	0.602		NA							Porokeratosis				34	84					0	0	0	0
ATXN2	6311	broad.mit.edu	37	12	111893892	111893892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:111893892G>A	uc001tsj.2	-	23	3847	c.3685C>T	c.(3685-3687)CAT>TAT	p.H1229Y	ATXN2_uc001tsh.2_Missense_Mutation_p.H964Y|ATXN2_uc001tsi.2_Missense_Mutation_p.H922Y|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.H417Y|ATXN2_uc001tsl.1_Missense_Mutation_p.H230Y	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1229					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TGAGAAGGATGGATCGTAAAG	0.557		NA											39	247					0	0	0	0
C12orf51	283450	broad.mit.edu	37	12	112667559	112667559	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:112667559G>A	uc009zwc.2	-	34	5214	c.5196C>T	c.(5194-5196)GCC>GCT	p.A1732A	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CACACAGTGCGGCAACGGCCT	0.493		NA											40	119					0	0	0	0
SOX1	6656	broad.mit.edu	37	13	112722100	112722100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr13:112722100G>A	uc001vsb.1	+	1	188	c.128G>A	c.(127-129)GGC>GAC	p.G43D		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	43	Poly-Gly.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ggcggcgggggcgCCAAGGCC	0.552		NA											5	2					0	0	0	0
MTMR15	22909	broad.mit.edu	37	15	31197067	31197067	+	Silent	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr15:31197067T>C	uc001zff.2	+	2	492	c.201T>C	c.(199-201)AAT>AAC	p.N67N	MTMR15_uc001zfc.3_Silent_p.N67N|MTMR15_uc010azw.2_Silent_p.N67N|MTMR15_uc001zfd.3_Silent_p.N67N|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	67	UBZ-type.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		GTGCTAACAATGACTTCGTTC	0.413		NA						Direct_reversal_of_damage|Editing_and_processing_nucleases					19	51					0	0	0	0
WDR90	197335	broad.mit.edu	37	16	715685	715685	+	Missense_Mutation	SNP	G	G	A	rs150784706	by1000genomes	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:715685G>A	uc002cii.1	+	35	4372	c.4318G>A	c.(4318-4320)GAG>AAG	p.E1440K	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.E55K|WDR90_uc010uul.1_Missense_Mutation_p.E39K|WDR90_uc002cio.1_Missense_Mutation_p.E39K|WDR90_uc010bqx.1_Missense_Mutation_p.E39K|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1440	WD 17.									ovary(1)	1		Hepatocellular(780;0.0218)				CCAGGTGAACGAGGTGGTCTT	0.647		NA											5	66					0	0	0	0
PTX4	390667	broad.mit.edu	37	16	1536086	1536086	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:1536086C>T	uc010uvf.1	-	3	1276	c.1276G>A	c.(1276-1278)GAT>AAT	p.D426N		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	431	Pentaxin.					extracellular region	metal ion binding				0						AGCGCCCGATCCCAGATAGCC	0.642		NA											12	62					0	0	0	0
TRAP1	10131	broad.mit.edu	37	16	3726128	3726128	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:3726128G>A	uc002cvt.3	-	7	812	c.723C>T	c.(721-723)ATC>ATT	p.I241I	TRAP1_uc002cvs.2_Silent_p.I32I|TRAP1_uc010uxf.1_Silent_p.I188I	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	241					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				AAGCTTCGGCGATTTCAAACA	0.557		NA											18	54					0	0	0	0
CREBBP	1387	broad.mit.edu	37	16	3779591	3779591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:3779591G>T	uc002cvv.2	-	31	5661	c.5457C>A	c.(5455-5457)TGC>TGA	p.C1819*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.C1781*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1819	TAZ-type 2.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGCTGCTTGCACACCGGGC	0.607		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				31	97					1.4e-14	1.62e-14	1	0
KIAA0430	9665	broad.mit.edu	37	16	15716857	15716857	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:15716857T>C	uc002ddr.2	-	11	2587	c.2394A>G	c.(2392-2394)ATA>ATG	p.I798M	KIAA0430_uc002ddq.2_Missense_Mutation_p.I632M|KIAA0430_uc010uzv.1_Missense_Mutation_p.I794M|KIAA0430_uc010uzw.1_Missense_Mutation_p.I797M	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	797	RRM.					peroxisome	nucleotide binding|RNA binding				0						ATCTGTAGTCTATGTTGCTGA	0.498		NA											4	96					0	0	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926408	22926408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:22926408G>A	uc002dli.2	+	2	701	c.629G>A	c.(628-630)CGT>CAT	p.R210H	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	210	PAPS and substrate (By similarity).|Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CCTGTGACCCGTGCCATCTCT	0.587		NA											38	120					0	0	0	0
SRCAP	10847	broad.mit.edu	37	16	30732558	30732558	+	Missense_Mutation	SNP	C	C	G	rs149248373	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:30732558C>G	uc002dze.1	+	21	3687	c.3302C>G	c.(3301-3303)ACG>AGG	p.T1101R	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.T958R|SRCAP_uc010bzz.1_Missense_Mutation_p.T671R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1101	Pro-rich.				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)			CGGCCTCCCACGCCAACCTTG	0.602		NA											31	134					0	0	0	0
SF3B3	23450	broad.mit.edu	37	16	70602265	70602265	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:70602265G>C	uc002ezf.2	+	22	3243	c.3032G>C	c.(3031-3033)TGG>TCG	p.W1011S		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1011					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				AGTTTCATCTGGGTTCGCTAC	0.438		NA											13	67					0	0	0	0
MYO1C	4641	broad.mit.edu	37	17	1375218	1375218	+	Silent	SNP	G	G	A	rs78672478	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:1375218G>A	uc002fsp.2	-	19	2224	c.2004C>T	c.(2002-2004)TAC>TAT	p.Y668Y	MYO1C_uc002fsn.2_Silent_p.Y649Y|MYO1C_uc002fso.2_Silent_p.Y633Y|MYO1C_uc010vqj.1_Silent_p.Y633Y|MYO1C_uc010vqk.1_Silent_p.Y644Y	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	668	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAAAGCTTCGTATTTGCGGC	0.632		NA											6	121					0	0	0	0
TNFSF13	8741	broad.mit.edu	37	17	7462496	7462496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:7462496C>T	uc002ghk.2	+	1	888	c.140C>T	c.(139-141)GCT>GTT	p.A47V	SENP3_uc002ghm.2_5'Flank|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_Missense_Mutation_p.A47V|TNFSF13_uc002ghl.2_Missense_Mutation_p.A47V|TNFSF13_uc010cmk.2_Missense_Mutation_p.A47V|TNFSF13_uc010vua.1_Missense_Mutation_p.A47V	NM_003808	NP_003799	O75888	TNF13_HUMAN	tumor necrosis factor ligand superfamily, member	47					mRNA metabolic process|positive regulation of cell proliferation|positive regulation of isotype switching to IgA isotypes|signal transduction	extracellular space|nucleoplasm	cytokine activity|tumor necrosis factor receptor binding			skin(1)	1		Prostate(122;0.157)				TGTGCCATGGCTCTGCTGACC	0.652		NA											5	28					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10369674	10369674	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:10369674G>C	uc002gmn.2	-	4	375	c.264C>G	c.(262-264)ATC>ATG	p.I88M	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	88	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(10)|skin(2)|central_nervous_system(1)	13						CCATGTCCTCGATCTTGTCAT	0.438		NA											30	103					0	0	0	0
CSH2	1443	broad.mit.edu	37	17	61950577	61950577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:61950577G>A	uc002jch.2	-	2	248	c.133C>T	c.(133-135)CGC>TGC	p.R45C	CSH2_uc002jcg.2_Missense_Mutation_p.R45C|CSH2_uc002jci.2_Missense_Mutation_p.R45C|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Missense_Mutation_p.R45C	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	45					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0						TGGTGCGCGCGATGGGCTTGG	0.592		NA											20	102					0	0	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172221	68172221	+	Silent	SNP	T	T	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:68172221T>G	uc010dfg.2	+	2	1442	c.1041T>G	c.(1039-1041)ACT>ACG	p.T347T	KCNJ2_uc002jir.2_Silent_p.T347T	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	347	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					TCCACAAAACTTACGAAGTCC	0.418		NA											22	136					0	0	0	0
POTEC	388468	broad.mit.edu	37	18	14543020	14543020	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr18:14543020G>T	uc010dln.2	-	1	580	c.126C>A	c.(124-126)AAC>AAA	p.N42K	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	42										skin(3)	3						AAGTGCCCATGTTGCTCTTGC	0.587		NA											11	193					2.49e-13	2.84e-13	1	0
TJP3	27134	broad.mit.edu	37	19	3734415	3734415	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:3734415G>T	uc010xhv.1	+	7	1067	c.1067G>T	c.(1066-1068)AGC>ATC	p.S356I	TJP3_uc010xhs.1_Missense_Mutation_p.S323I|TJP3_uc010xht.1_Missense_Mutation_p.S287I|TJP3_uc010xhu.1_Missense_Mutation_p.S332I|TJP3_uc010xhw.1_Missense_Mutation_p.S342I	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	337						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)		CCCGAGGCCAGCCAGACCGAC	0.657		NA											5	29					3.6e-05	3.95e-05	1	0
CREB3L3	84699	broad.mit.edu	37	19	4171778	4171778	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:4171778G>A	uc002lzl.2	+	10	1314	c.1198G>A	c.(1198-1200)GGG>AGG	p.G400R	CREB3L3_uc002lzm.2_Missense_Mutation_p.G390R|CREB3L3_uc010xib.1_Missense_Mutation_p.G389R|CREB3L3_uc010xic.1_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	400	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAAGCCCCGGGGCAGACTG	0.667		NA											29	83					0	0	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233655	36233655	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:36233655G>A	uc002obg.2	-	8	834	c.525C>T	c.(523-525)ATC>ATT	p.I175I	TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_3'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.R171W|U2AF1L4_uc002obf.2_Silent_p.I151I|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.	Error:Variant_position_missing_in_Q8WU68_after_alignment					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGAACACCGATGGTTCCTC	0.597		NA											32	133					0	0	0	0
ITPKC	80271	broad.mit.edu	37	19	41239201	41239201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:41239201C>T	uc002oot.2	+	4	1639	c.1606C>T	c.(1606-1608)CGC>TGC	p.R536C		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	536	Substrate binding.					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CACCAAGCCCCGCTACATGCA	0.642		NA											4	15					0	0	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098804	178098804	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:178098804C>A	uc002ulh.3	-	2	796	c.241G>T	c.(241-243)GGT>TGT	p.G81C	NFE2L2_uc002ulg.3_Missense_Mutation_p.G65C|NFE2L2_uc010zfa.1_Missense_Mutation_p.G65C|NFE2L2_uc002uli.3_Missense_Mutation_p.G65C|NFE2L2_uc010fra.2_Missense_Mutation_p.G65C|NFE2L2_uc010frb.2_Missense_Mutation_p.G65C	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	81					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)			AGAAATTCACCTGTCTCTTCA	0.438		NA	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			46	68					1.43e-14	1.65e-14	1	0
TTN	7273	broad.mit.edu	37	2	179600758	179600758	+	Silent	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:179600758T>C	uc010zfg.1	-	47	10907	c.10683A>G	c.(10681-10683)ACA>ACG	p.T3561T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T222T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4488							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)			CCACAAAAGTTGTAAGGGACT	0.458		NA											25	54					0	0	0	0
SP140	11262	broad.mit.edu	37	2	231155199	231155199	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:231155199C>A	uc002vql.2	+	19	1860	c.1745C>A	c.(1744-1746)ACT>AAT	p.T582N	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.T468N|SP140_uc002vqm.2_Missense_Mutation_p.T522N|SP140_uc010fxl.2_Missense_Mutation_p.T555N	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	582	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGATGAAACTGTGGATTTT	0.428		NA											34	104					4.03e-09	4.52e-09	1	0
C20orf165	128497	broad.mit.edu	37	20	44516182	44516182	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr20:44516182G>A	uc002xqf.2	-	1	57	c.48C>T	c.(46-48)TCC>TCT	p.S16S		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	chromosome 20 open reading frame 165	16						integral to membrane					0		Myeloproliferative disorder(115;0.0122)				CACCTTGGCCGGAAGGCAGAG	0.607		NA											9	45					0	0	0	0
ZFP64	55734	broad.mit.edu	37	20	50803572	50803572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr20:50803572C>A	uc002xwl.2	-	2	434	c.85G>T	c.(85-87)GAC>TAC	p.D29Y	ZFP64_uc002xwk.2_Missense_Mutation_p.D29Y|ZFP64_uc002xwm.2_Missense_Mutation_p.D27Y|ZFP64_uc002xwn.2_Missense_Mutation_p.D29Y	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ATATGGATGTCGGGAGTCAGC	0.512		NA											8	31					5.49e-09	6.14e-09	1	0
COL6A1	1291	broad.mit.edu	37	21	47412128	47412128	+	Silent	SNP	C	C	T	rs140478280		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr21:47412128C>T	uc002zhu.1	+	17	1335	c.1233C>T	c.(1231-1233)GAC>GAT	p.D411D		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	411	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGCGGGCGACGAGGTGAGTG	0.627		NA											7	32					0	0	0	0
TMEM207	131920	broad.mit.edu	37	3	190158157	190158157	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr3:190158157C>A	uc003fsj.2	-	4	247	c.180G>T	c.(178-180)TTG>TTT	p.L60F		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	60	Helical; (Potential).					integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		GAGCTGCCACCAAAACCAGCA	0.517		NA											9	32					0.000274275	0.000296716	1	0
UGT2B7	7364	broad.mit.edu	37	4	69962247	69962247	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr4:69962247G>A	uc003heg.3	+	1	55	c.9G>A	c.(7-9)GTG>GTA	p.V3V	UGT2B7_uc010ihq.2_Silent_p.V3V	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	3					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						GGATGTCTGTGAAATGGACTT	0.408		NA											15	77					0	0	0	0
CHD1	1105	broad.mit.edu	37	5	98205532	98205532	+	Missense_Mutation	SNP	T	T	C	rs139215644	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr5:98205532T>C	uc003knf.2	-	29	4181	c.4033A>G	c.(4033-4035)ATA>GTA	p.I1345V	CHD1_uc010jbn.2_Missense_Mutation_p.I71V	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1345					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCACTTTTATAGACTTCATT	0.308		NA											3	32					0	0	0	0
SAP30L	79685	broad.mit.edu	37	5	153826344	153826344	+	Silent	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr5:153826344C>A	uc003lvk.2	+	1	828	c.180C>A	c.(178-180)CTC>CTA	p.L60L	uc003lvi.2_5'Flank|SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Silent_p.L60L|SAP30L_uc011ddd.1_Silent_p.L60L	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	SAP30-like isoform 1	60	Atypical.				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)			AGAAGAAACTCAAGCTGGACA	0.687		NA											5	12					1.24e-05	1.37e-05	1	0
KLHL31	401265	broad.mit.edu	37	6	53519325	53519325	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:53519325T>C	uc003pcb.3	-	2	887	c.746A>G	c.(745-747)AAA>AGA	p.K249R		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	249	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)					TGCAGCGTATTTTACTCTCTT	0.373		NA											26	97					0	0	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379002	114379002	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:114379002C>G	uc003pwg.3	-	2	492	c.460G>C	c.(460-462)GAA>CAA	p.E154Q	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.E154Q	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	154	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGGCTCTTTTCAATTGTGATT	0.383		NA											29	145					0	0	0	0
QKI	9444	broad.mit.edu	37	6	163956139	163956139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:163956139G>T	uc003qui.2	+	4	1079	c.528G>T	c.(526-528)AAG>AAT	p.K176N	QKI_uc003que.2_Missense_Mutation_p.K176N|QKI_uc003quf.2_Missense_Mutation_p.K176N|QKI_uc003qug.2_Missense_Mutation_p.K176N|QKI_uc003quh.2_Missense_Mutation_p.K176N|QKI_uc003quj.2_Missense_Mutation_p.K176N	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	176					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AAGAAGTGAAGAAATTATTGG	0.343		NA											24	96					1.75e-13	2.01e-13	1	0
HGF	3082	broad.mit.edu	37	7	81381502	81381502	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr7:81381502G>A	uc003uhl.2	-	5	724	c.559C>T	c.(559-561)CCC>TCC	p.P187S	HGF_uc003uhm.2_Missense_Mutation_p.P182S|HGF_uc003uhn.1_Missense_Mutation_p.P187S|HGF_uc003uho.1_Missense_Mutation_p.P182S|HGF_uc003uhp.2_Missense_Mutation_p.P187S	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	187	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						AAACACCAGGGTCCCCCTTCT	0.443		NA											8	31					0	0	0	0
ZFAT	57623	broad.mit.edu	37	8	135614165	135614165	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr8:135614165C>A	uc003yup.2	-	6	1972	c.1797G>T	c.(1795-1797)TTG>TTT	p.L599F	ZFAT_uc003yun.2_Missense_Mutation_p.L587F|ZFAT_uc003yuo.2_Missense_Mutation_p.L587F|ZFAT_uc010meh.2_Missense_Mutation_p.L587F|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.L587F|ZFAT_uc010mej.2_Missense_Mutation_p.L537F|ZFAT_uc003yur.2_Missense_Mutation_p.L587F	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TATCATTTTTCAACAAAAAAT	0.537		NA											9	37					1.13e-05	1.25e-05	1	0
SMC1A	8243	broad.mit.edu	37	X	53432540	53432540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chrX:53432540C>T	uc004dsg.2	-	11	1865	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	SMC1A_uc011moe.1_Missense_Mutation_p.R577H|SMC1A_uc011mof.1_Missense_Mutation_p.R365H	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	599	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						TGGCTCATAGCGAATCACATC	0.532		NA											32	14					0	0	0	0
WDR44	54521	broad.mit.edu	37	X	117578415	117578415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chrX:117578415G>A	uc004eqn.2	+	19	3030	c.2605G>A	c.(2605-2607)GAG>AAG	p.E869K	WDR44_uc004eqo.2_Missense_Mutation_p.E861K|WDR44_uc011mtr.1_Missense_Mutation_p.E780K|WDR44_uc010nqi.2_Missense_Mutation_p.E579K	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	869						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						AGAAGGGAACGAGAAAAGTGA	0.393		NA											42	41					0	0	0	0
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr15:65918177_65918179delCTG	uc010ujf.1	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)CTGdel	p.L591del	SLC24A1_uc010ujd.1_In_Frame_Del_p.L591del|SLC24A1_uc010uje.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujg.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujh.1_In_Frame_Del_p.L591del	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	591	Helical; (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						GTGGGAGAGCCTGCTGCTGCTGC	0.547		NA											8	121	---	---	---	---	NA	NA	NA	NA
NUFIP2	57532	broad.mit.edu	37	17	27614070	27614071	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:27614070_27614071insT	uc002hdy.3	-	2	1030_1031	c.941_942insA	c.(940-942)AAGfs	p.K314fs	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	314						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GATCATCAAACTTTTTGCTGCT	0.475		NA											38	82	---	---	---	---	NA	NA	NA	NA
FSTL5	56884	broad.mit.edu	37	4	162307374	162307374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr4:162307374delT	uc003iqh.2	-	16	2505	c.2069delA	c.(2068-2070)AATfs	p.N690fs	FSTL5_uc003iqi.2_Frame_Shift_Del_p.N689fs|FSTL5_uc010iqv.2_Frame_Shift_Del_p.N680fs|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	690						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACATCACTATTGAACCCAAT	0.488		NA											17	56	---	---	---	---	NA	NA	NA	NA
HIST1H2BL	8340	broad.mit.edu	37	6	27775637	27775638	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:27775637_27775638insTT	uc003njl.2	-	1	72_73	c.47_48insAA	c.(46-48)AAGfs	p.K16fs	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	16					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TCACCGCCTTCTTGGAGCCCTT	0.54		NA											7	141	---	---	---	---	NA	NA	NA	NA
PRKDC	5591	broad.mit.edu	37	8	48701554	48701555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr8:48701554_48701555insT	uc003xqi.2	-	77	10871_10872	c.10814_10815insA	c.(10813-10815)AACfs	p.N3605fs	PRKDC_uc003xqj.2_Frame_Shift_Ins_p.N3605fs|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3605					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)				TTTTTTCAATGTTTTTTTTATT	0.401		NA						NHEJ					15	69	---	---	---	---	NA	NA	NA	NA