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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
EXOSC10	5394	broad.mit.edu	37	1	11142751	11142751	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:11142751C>G	uc001asa.2	-	10	1324	c.1274G>C	c.(1273-1275)AGA>ACA	p.R425T	EXOSC10_uc001asb.2_Missense_Mutation_p.R425T|EXOSC10_uc009vmy.1_Missense_Mutation_p.R425T	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	425					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGACCGTATTCTCCAATCAGC	0.488	Colon(179;105 1987 14326 27364 29542)		NA											13	114					0	0	0.00499	0	0
EPHA8	2046	broad.mit.edu	37	1	22927936	22927936	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:22927936C>G	uc001bfx.1	+	16	2998	c.2873C>G	c.(2872-2874)TCT>TGT	p.S958C		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	958	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGATACTCCTCTCTGGGCATG	0.716			NA											18	48					0	0	0.007413	0	0
PAQR7	164091	broad.mit.edu	37	1	26189836	26189836	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:26189836G>A	uc001bkx.2	-	2	1162	c.495C>T	c.(493-495)GCC>GCT	p.A165A		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	165	Extracellular (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCATGCCAGGCGGGCTCGA	0.542	Esophageal Squamous(111;1206 1556 18433 19151 38418)		NA											27	79					0	0	0.00632	0	0
TARS2	80222	broad.mit.edu	37	1	150479448	150479448	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:150479448C>T	uc001euq.2	+	18	2072	c.2065C>T	c.(2065-2067)CGT>TGT	p.R689C	TARS2_uc001eur.2_Missense_Mutation_p.R607C|TARS2_uc009wlt.2_Missense_Mutation_p.R315C|TARS2_uc009wls.2_Missense_Mutation_p.R559C|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	689					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCGAGATAATCGTCGCCTTGG	0.517			NA											24	35					0	0	0.01892	0	0
NPR1	4881	broad.mit.edu	37	1	153661467	153661467	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:153661467G>A	uc001fcs.3	+	16	2877	c.2456G>A	c.(2455-2457)CGC>CAC	p.R819H	NPR1_uc010pdz.1_Missense_Mutation_p.R565H|NPR1_uc010pea.1_Missense_Mutation_p.R297H	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	819	Cytoplasmic (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGCTGTCCCGCATGGAGCAG	0.627	Pancreas(141;1349 1870 15144 15830 40702)		NA											4	159					0	0	0.009096	0	0
BCAN	63827	broad.mit.edu	37	1	156627540	156627540	+	Silent	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:156627540C>G	uc001fpp.2	+	11	2619	c.2283C>G	c.(2281-2283)GGC>GGG	p.G761G		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	761	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCGGATGGCGTCCCCCTGG	0.488			NA									OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	30					0	0	0.001168	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890245	159890245	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:159890245C>G	uc001fum.1	-	1	105	c.55G>C	c.(55-57)GAG>CAG	p.E19Q	CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.E19Q|TAGLN2_uc001fuo.1_Missense_Mutation_p.E19Q|TAGLN2_uc010piy.1_Missense_Mutation_p.E19Q	NM_003564	NP_003555	P37802	TAGL2_HUMAN	transgelin 2	19					muscle organ development	nuclear membrane|plasma membrane	protein binding				0	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATTGTTTCTCAATCTTCTGC	0.597			NA											15	46					0	0	0.003163	0	0
TNN	63923	broad.mit.edu	37	1	175086186	175086186	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:175086186C>T	uc001gkl.1	+	10	2344	c.2231C>T	c.(2230-2232)TCT>TTT	p.S744F		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	744	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTACACCTCTGCCAAGGAC	0.632			NA											27	104					0	0	0.004656	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415113	210415113	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:210415113C>G	uc001hhy.2	+	4	681	c.502C>G	c.(502-504)CAA>GAA	p.Q168E	SERTAD4_uc009xcw.2_Missense_Mutation_p.Q168E	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	168							protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GTTTATGGCTCAAGACTGCCC	0.463			NA											4	204					0	0	0.009096	0	0
LBR	3930	broad.mit.edu	37	1	225609951	225609951	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:225609951C>T	uc001hoy.2	-	3	337	c.194G>A	c.(193-195)GGT>GAT	p.G65D	LBR_uc001hoz.2_Missense_Mutation_p.G65D|LBR_uc001hpa.1_Missense_Mutation_p.G65D	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	65	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AGTTGAGCCACCTTTCCTTTG	0.517			NA											12	38					0	0	0.013537	0	0
URB2	9816	broad.mit.edu	37	1	229790095	229790095	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr1:229790095C>T	uc001hts.1	+	9	4473	c.4337C>T	c.(4336-4338)TCC>TTC	p.S1446F	URB2_uc009xfd.1_Missense_Mutation_p.S1446F	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1446						nucleolus				central_nervous_system(2)|ovary(1)	3						GCTGTGTTTTCCCCATTTATG	0.483			NA											34	60					0	0	0.019004	0	0
FAM107B	83641	broad.mit.edu	37	10	14816578	14816578	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:14816578C>T	uc001ina.1	-	1	319	c.85G>A	c.(85-87)GCC>ACC	p.A29T	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						CCAAAACAGGCGAGCAGAGCT	0.532			NA											5	83					0	0	0.001168	0	0
YME1L1	10730	broad.mit.edu	37	10	27437885	27437885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:27437885G>A	uc001iti.2	-	2	300	c.118C>T	c.(118-120)CAA>TAA	p.Q40*	YME1L1_uc001itj.2_Nonsense_Mutation_p.Q40*|YME1L1_uc010qdl.1_Nonsense_Mutation_p.Q40*|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Nonsense_Mutation_p.Q40*	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	40					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						TGCTGGTTTTGAGAAACTGAC	0.398			NA											50	143					0	0	0.01441	0	0
RBP3	5949	broad.mit.edu	37	10	48388984	48388984	+	Missense_Mutation	SNP	A	A	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:48388984A>C	uc001jez.2	-	1	2008	c.1894T>G	c.(1894-1896)TTC>GTC	p.F632V		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	632	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CTTTGGTGGAACTCCAGCACT	0.672			NA											13	27					0	0	0.020292	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81056385	81056385	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:81056385C>T	uc001kaf.2	+	13	1960	c.1388C>T	c.(1387-1389)ACG>ATG	p.T463M	ZMIZ1_uc001kag.2_Missense_Mutation_p.T339M|ZMIZ1_uc001kah.1_3'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	463	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCGCCCCCCACGGTCAACATG	0.667			NA											8	61					0	0	0.004482	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93389731	93389731	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:93389731C>G	uc001kho.2	-	2	1039	c.907G>C	c.(907-909)GAG>CAG	p.E303Q		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	303							protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)				CTCTGCCACTCTGGGAAGAGC	0.507			NA											3	105					0	0	0.009096	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089819	102089819	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:102089819C>A	uc001kqx.1	-	1	425	c.42G>T	c.(40-42)AAG>AAT	p.K14N	PKD2L1_uc009xwm.1_5'UTR	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	14	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CACTCCCCAGCTTTTGCAGCT	0.652			NA											9	67					0.000673444	0.000703542	0.008291	1	0
DUSP5	1847	broad.mit.edu	37	10	112270036	112270036	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:112270036C>G	uc001kzd.2	+	4	1262	c.1007C>G	c.(1006-1008)TCT>TGT	p.S336C		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	336	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GCAGCAGGCTCTTCACTGATA	0.607			NA											17	49					0	0	0.00499	0	0
FAM196A	642938	broad.mit.edu	37	10	128974492	128974492	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr10:128974492C>T	uc001lju.1	-	1	209	c.168G>A	c.(166-168)CAG>CAA	p.Q56Q	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.Q56Q|FAM196A_uc001ljv.1_Silent_p.Q56Q|FAM196A_uc009yap.1_Silent_p.Q56Q	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	56										ovary(2)	2						TCTGCTCATTCTGTGCCTCGC	0.587			NA											46	108					0	0	0.01441	0	0
OR51E2	81285	broad.mit.edu	37	11	4703674	4703674	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:4703674C>T	uc001lzk.2	-	2	512	c.268G>A	c.(268-270)GAG>AAG	p.E90K		NM_030774	NP_110401	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(3)|ovary(2)	5		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGCTAATCTCTCGGGAATCA	0.493			NA											19	48					0	0	0.006122	0	0
OR52E8	390079	broad.mit.edu	37	11	5878253	5878254	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:5878253_5878254AG>GA	uc010qzr.1	-	1	679_680	c.679_680CT>TC	c.(679-681)CTG>TCG	p.L227S	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGCATACAGGATCCTGACA	0.455			NA											5	46					0	0	0.004672	0	0
KCNC1	3746	broad.mit.edu	37	11	17794091	17794091	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:17794091C>G	uc001mnk.3	+	2	1505	c.1450C>G	c.(1450-1452)CAG>GAG	p.Q484E	KCNC1_uc009yhc.1_Missense_Mutation_p.Q484E	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	484	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CCACAGTACTCAGAGTGACAC	0.458			NA											28	80					0	0	0.009535	0	0
OR8K1	390157	broad.mit.edu	37	11	56114262	56114262	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:56114262C>T	uc010rjg.1	+	1	748	c.748C>T	c.(748-750)CAT>TAT	p.H250Y		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					CTGTAGCTCTCATCTGACAGT	0.408			NA								HNSCC(65;0.19)			14	55					0	0	0.020292	0	0
OR5B3	441608	broad.mit.edu	37	11	58170261	58170261	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:58170261C>T	uc010rkf.1	-	1	622	c.622G>A	c.(622-624)GCT>ACT	p.A208T		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAGGAGAGCTATAAAGATA	0.393			NA											14	40					0	0	0.016723	0	0
MARK2	2011	broad.mit.edu	37	11	63665725	63665725	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:63665725A>G	uc001nxw.2	+	4	889	c.310A>G	c.(310-312)ATG>GTG	p.M104V	MARK2_uc001nxx.2_Missense_Mutation_p.M104V|MARK2_uc001nxy.2_Missense_Mutation_p.M104V|MARK2_uc001nxv.3_Missense_Mutation_p.M104V|MARK2_uc001nxz.3_Missense_Mutation_p.M71V|MARK2_uc009yoy.2_Missense_Mutation_p.M71V	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	104	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						AGTAAGAATAATGAAGGTTTT	0.463			NA											35	138					0	0	0.00623	0	0
MARK2	2011	broad.mit.edu	37	11	63668051	63668051	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:63668051G>A	uc001nxw.2	+	9	1368	c.789G>A	c.(787-789)CTG>CTA	p.L263L	MARK2_uc001nxx.2_Silent_p.L263L|MARK2_uc001nxy.2_Silent_p.L263L|MARK2_uc001nxv.3_Silent_p.L263L|MARK2_uc001nxz.3_Silent_p.L230L|MARK2_uc009yoy.2_Silent_p.L230L	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	263	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						AACGGGTACTGAGGGGAAAAT	0.463			NA											85	164					0	0	0.01441	0	0
NUMA1	4926	broad.mit.edu	37	11	71725332	71725332	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:71725332C>T	uc001orl.1	-	15	3389	c.3217G>A	c.(3217-3219)GAG>AAG	p.E1073K	NUMA1_uc009ysw.1_Missense_Mutation_p.E636K|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.E1073K|NUMA1_uc001orn.2_Missense_Mutation_p.E636K|NUMA1_uc009ysx.1_Missense_Mutation_p.E1073K|NUMA1_uc001oro.1_Missense_Mutation_p.E1073K	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1073	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TGGGCTGCCTCCAGACCACGA	0.562			NA	T	RARA	APL								34	141					0	0	0.012213	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680827	106680827	+	Silent	SNP	A	A	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:106680827A>C	uc001pjg.1	-	5	1974	c.1584T>G	c.(1582-1584)GTT>GTG	p.V528V	GUCY1A2_uc010rvo.1_Silent_p.V549V|GUCY1A2_uc009yxn.1_Silent_p.V528V	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	528	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTGTGAAGCCAACAATGTCTG	0.448			NA											3	64					0	0	0.009096	0	0
ATM	472	broad.mit.edu	37	11	108235833	108235833	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr11:108235833G>C	uc001pkb.1	+	62	9260	c.8875G>C	c.(8875-8877)GAC>CAC	p.D2959H	ATM_uc009yxr.1_Missense_Mutation_p.D2959H|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.D1611H	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2959	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCCACTCTTTGACTGGACCAT	0.373			NA	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			10	38					0	0	0.008291	0	0
CD163L1	283316	broad.mit.edu	37	12	7586192	7586192	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:7586192C>T	uc001qsy.2	-	3	249	c.223G>A	c.(223-225)GAT>AAT	p.D75N	CD163L1_uc010sge.1_Missense_Mutation_p.D75N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	75	SRCR 1.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TTCCACCCATCATCACACACA	0.512			NA											30	93					0	0	0.019004	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:13028751G>C	uc010sho.1	+	1	341	c.319G>C	c.(319-321)GGC>CGC	p.G107R		NR_003932				SubName: Full=Ribosomal protein L13a variant; Flags: Fragment;												0						GGTGTTTGACGGCATCCCACC	0.612			NA											3	32					0	0	0.004672	0	0
ALG10	84920	broad.mit.edu	37	12	34179527	34179527	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:34179527G>C	uc001rlm.2	+	3	1418	c.1099G>C	c.(1099-1101)GAA>CAA	p.E367Q		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	367	Extracellular (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAAAGATATGAAACTGTAAA	0.289			NA											24	63					0	0	0.01892	0	0
MLL2	8085	broad.mit.edu	37	12	49425896	49425896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:49425896G>A	uc001rta.3	-	39	12592	c.12592C>T	c.(12592-12594)CGA>TGA	p.R4198*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4198	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCTGTGCTCGAAGCTGACCC	0.587			NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			20	63					0	0	0.010504	0	0
C1QL4	338761	broad.mit.edu	37	12	49730237	49730237	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:49730237G>A	uc001rtz.1	-	1	735	c.24C>T	c.(22-24)GCC>GCT	p.A8A		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	8						collagen					0						GCAGCGGGATGGCCACCAGCA	0.721			NA											10	14					0	0	0.008291	0	0
RACGAP1	29127	broad.mit.edu	37	12	50388048	50388048	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:50388048C>G	uc001rvt.2	-	14	1515	c.1205G>C	c.(1204-1206)AGA>ACA	p.R402T	RACGAP1_uc009zlm.1_Missense_Mutation_p.R402T|RACGAP1_uc001rvs.2_Missense_Mutation_p.R402T|RACGAP1_uc001rvu.2_Missense_Mutation_p.R402T	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	402	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						AGTTTTCACTCTGAGGAATTT	0.413			NA											3	125					0	0	0.004672	0	0
SP1	6667	broad.mit.edu	37	12	53776245	53776245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:53776245C>T	uc001scw.2	+	3	611	c.514C>T	c.(514-516)CAG>TAG	p.Q172*	SP1_uc010sog.1_Nonsense_Mutation_p.Q165*	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	172	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCCTAATATTCAGTATCAAGT	0.517			NA											31	85					0	0	0.009535	0	0
TMPO	7112	broad.mit.edu	37	12	98938265	98938265	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:98938265G>A	uc001tfj.2	+	6	1066	c.829G>A	c.(829-831)GAG>AAG	p.E277K	TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_RNA	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	277	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2						AGTAATTTCAGAGAGTACTCC	0.303			NA											8	22					0	0	0.00308	0	0
RPH3A	22895	broad.mit.edu	37	12	113303345	113303345	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:113303345G>C	uc010syl.1	+	6	719	c.357G>C	c.(355-357)AAG>AAC	p.K119N	RPH3A_uc001ttz.2_Missense_Mutation_p.K119N|RPH3A_uc001tty.2_Missense_Mutation_p.K115N|RPH3A_uc009zwe.1_Missense_Mutation_p.K115N|RPH3A_uc010sym.1_Missense_Mutation_p.K70N|RPH3A_uc001tua.2_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	119	RabBD.|FYVE-type.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGGACTGTAAGAAGGTATCAT	0.562			NA											15	51					0	0	0.003163	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834220	125834220	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr12:125834220C>T	uc001uhe.1	+	2	283	c.275C>T	c.(274-276)TCA>TTA	p.S92L		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	92	Extracellular (Potential).					integral to membrane				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)		GGCCCATTTTCAGTGGAGAAG	0.498			NA											32	136					0	0	0.013726	0	0
FREM2	341640	broad.mit.edu	37	13	39454606	39454606	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr13:39454606G>C	uc001uwv.2	+	24	9501	c.9192G>C	c.(9190-9192)GAG>GAC	p.E3064D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	3064	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCATGGGAGATTGGTGCTG	0.557			NA											8	77					0	0	0.008291	0	0
KLF5	688	broad.mit.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr13:73649905G>C	uc001vje.2	+	4	1579	c.1255G>C	c.(1255-1257)GAG>CAG	p.E419Q	KLF5_uc001vjd.2_Missense_Mutation_p.E328Q	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	419	C2H2-type 2.				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592			NA											16	54					0	0	0.016522	0	0
COCH	1690	broad.mit.edu	37	14	31355424	31355424	+	Silent	SNP	A	A	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:31355424A>C	uc001wqr.2	+	11	1463	c.1383A>C	c.(1381-1383)ATA>ATC	p.I461I	COCH_uc001wqp.2_Silent_p.I461I|COCH_uc001wqq.3_Silent_p.I461I|uc001wqs.2_RNA|COCH_uc001wqt.1_Silent_p.I312I	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	461	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTGGCCCTATAAGGGAGAGCC	0.478			NA											28	62					0	0	0.005443	0	0
HECTD1	25831	broad.mit.edu	37	14	31589063	31589063	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:31589063C>G	uc001wrc.1	-	29	5737	c.5248G>C	c.(5248-5250)GAG>CAG	p.E1750Q	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.E1218Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1750					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTTCGTACTCTTCTTCTTCC	0.368			NA											15	57					0	0	0.00499	0	0
CNIH	10175	broad.mit.edu	37	14	54894543	54894543	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:54894543C>A	uc001xat.1	-	5	527	c.424G>T	c.(424-426)GTG>TTG	p.V142L	CNIH_uc001xav.1_Missense_Mutation_p.V94L	NM_005776	NP_005767	O95406	CNIH_HUMAN	cornichon-like	142	Helical; (Potential).				immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane					0				GBM - Glioblastoma multiforme(112;0.00341)		TAAGAGCTCACCAAAACATAG	0.343			NA											14	72					5.3912e-06	5.76089e-06	0.006122	1	0
SYNE2	23224	broad.mit.edu	37	14	64522939	64522939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:64522939C>G	uc001xgm.2	+	49	10252	c.10022C>G	c.(10021-10023)TCA>TGA	p.S3341*	SYNE2_uc001xgl.2_Nonsense_Mutation_p.S3341*|SYNE2_uc010apw.1_Nonsense_Mutation_p.S47*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3341	Cytoplasmic (Potential).|Potential.				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)		TCTAAGAACTCAGCAATGAAG	0.403			NA											10	24					0	0	0.010729	0	0
SPTLC2	9517	broad.mit.edu	37	14	78021723	78021723	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:78021723C>G	uc001xub.2	-	8	1284	c.1096G>C	c.(1096-1098)GAT>CAT	p.D366H		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	366						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCCTCGGGATCCAGGCCAAAG	0.512			NA											3	173					0	0	0.004672	0	0
PACS2	23241	broad.mit.edu	37	14	105851322	105851322	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr14:105851322G>T	uc001yqt.2	+	18	2161	c.1986G>T	c.(1984-1986)AAG>AAT	p.K662N	PACS2_uc001yqs.2_Missense_Mutation_p.K587N|PACS2_uc001yqv.2_Missense_Mutation_p.K666N|PACS2_uc001yqu.2_Missense_Mutation_p.K666N	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	662					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACAAGCAGAAGAGGTAACGCG	0.662			NA											3	4					6.4e-05	6.7236e-05	0.004672	1	0
BAHD1	22893	broad.mit.edu	37	15	40751633	40751633	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr15:40751633C>T	uc001zlu.2	+	2	1041	c.970C>T	c.(970-972)CTG>TTG	p.L324L	BAHD1_uc001zlt.2_Silent_p.L324L|BAHD1_uc010bbp.1_Silent_p.L324L|BAHD1_uc001zlv.2_Silent_p.L324L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	324	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACAGGCGGCTCTGAAGCCGGA	0.667			NA											30	55					0	0	0.007291	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44751319	44751319	+	Nonsense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr15:44751319C>G	uc001ztr.2	+	2	523	c.107C>G	c.(106-108)TCA>TGA	p.S36*	CTDSPL2_uc001zts.2_Nonsense_Mutation_p.S36*|CTDSPL2_uc001ztt.2_Nonsense_Mutation_p.S36*|CTDSPL2_uc010bdv.2_Nonsense_Mutation_p.S36*	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	36							phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AGCCTGCCTTCAGGAGGAGAA	0.393			NA											30	75					0	0	0.015359	0	0
RFX7	64864	broad.mit.edu	37	15	56385610	56385610	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr15:56385610G>A	uc010bfn.2	-	9	4316	c.4316C>T	c.(4315-4317)TCT>TTT	p.S1439F	RFX7_uc010ugk.1_Intron|RFX7_uc002adn.1_Intron	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	1342					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						TGAAGTCATAGAATTCATGGA	0.368			NA											5	36					0	0	0.014758	0	0
RASGRF1	5923	broad.mit.edu	37	15	79323749	79323750	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr15:79323749_79323750GC>CT	uc002beq.2	-	8	1629_1630	c.1254_1255GC>AG	c.(1252-1257)GAGCTG>GAAGTG	p.L419V	RASGRF1_uc002bep.2_Missense_Mutation_p.L419V|RASGRF1_uc010blm.1_Missense_Mutation_p.L341V|RASGRF1_uc002ber.3_Missense_Mutation_p.L419V	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	419	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						CACCTGGACAGCTCCTCCAGTT	0.619			NA											6	10					0	0	0.004672	0	0
PTX4	390667	broad.mit.edu	37	16	1537675	1537675	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:1537675C>T	uc010uvf.1	-	2	423	c.423G>A	c.(421-423)CAG>CAA	p.Q141Q		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	146						extracellular region	metal ion binding				0						GGGCGTCCCTCTGGGCCTTGT	0.726			NA											9	40					0	0	0.006214	0	0
KIAA0430	9665	broad.mit.edu	37	16	15706555	15706555	+	Silent	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:15706555C>G	uc002ddr.2	-	17	3526	c.3333G>C	c.(3331-3333)CTG>CTC	p.L1111L	KIAA0430_uc002ddq.2_Silent_p.L945L|KIAA0430_uc010uzv.1_Silent_p.L1107L|KIAA0430_uc010uzw.1_Silent_p.L1110L	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1110						peroxisome	nucleotide binding|RNA binding				0						GCTGGCTTTTCAGCAAGTCAA	0.468			NA											53	157					0	0	0.01441	0	0
DNAH3	55567	broad.mit.edu	37	16	20952856	20952856	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:20952856C>T	uc010vbe.1	-	59	11521	c.11521G>A	c.(11521-11523)GAG>AAG	p.E3841K	DNAH3_uc010vbd.1_Missense_Mutation_p.E1276K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3841					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)		GCCAACTCCTCAACCACTTCC	0.458			NA											42	119					0	0	0.010771	0	0
NFAT5	10725	broad.mit.edu	37	16	69726596	69726596	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:69726596G>C	uc002exm.1	+	12	4022	c.2814G>C	c.(2812-2814)ATG>ATC	p.M938I	NFAT5_uc002exi.2_Missense_Mutation_p.M862I|NFAT5_uc002exj.1_Missense_Mutation_p.M862I|NFAT5_uc002exk.1_Missense_Mutation_p.M862I|NFAT5_uc002exl.1_Missense_Mutation_p.M956I|NFAT5_uc002exn.1_Missense_Mutation_p.M955I|NFAT5_uc002exo.1_5'Flank	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	938					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTTCTCACATGATGAGTGCAT	0.448			NA											3	85					0	0	0.004672	0	0
CHST5	23563	broad.mit.edu	37	16	75563963	75563963	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:75563963G>A	uc002fei.2	-	3	1715	c.320C>T	c.(319-321)GCG>GTG	p.A107V	CHST5_uc002fej.1_Missense_Mutation_p.A113V	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	107	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CAGCGTTGCCGCGCTGCCCTG	0.612			NA											14	56					0	0	0.003163	0	0
CDH13	1012	broad.mit.edu	37	16	83816885	83816885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:83816885C>T	uc002fgx.2	+	13	2062	c.1942C>T	c.(1942-1944)CAA>TAA	p.Q648*	CDH13_uc010vns.1_Nonsense_Mutation_p.Q695*|CDH13_uc010vnt.1_Nonsense_Mutation_p.Q394*|CDH13_uc010vnu.1_Nonsense_Mutation_p.Q609*	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	648	Cadherin 5.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAGCCTTCTTCAAAATCTGAA	0.453			NA											5	23					0	0	0.001168	0	0
RAI1	10743	broad.mit.edu	37	17	17697979	17697979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:17697979C>T	uc002grm.2	+	3	2186	c.1717C>T	c.(1717-1719)CAG>TAG	p.Q573*	RAI1_uc002grn.1_Nonsense_Mutation_p.Q573*	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	573						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CGACTCCTTCCAGAGCCTACA	0.622			NA											25	124					0	0	0.00632	0	0
EPN2	22905	broad.mit.edu	37	17	19186886	19186886	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:19186886G>C	uc002gvd.3	+	3	902	c.454G>C	c.(454-456)GAG>CAG	p.E152Q	EPN2_uc002gvc.2_Missense_Mutation_p.E152Q|EPN2_uc010vyn.1_Missense_Mutation_p.E152Q|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.E152Q|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.E152Q|EPN2_uc010vyp.1_Missense_Mutation_p.E152Q|EPN2_uc010vyq.1_Missense_Mutation_p.E152Q|EPN2_uc002gvh.1_Missense_Mutation_p.E152Q	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	152					endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAAAACCAAAGAGCGCATGGC	0.602			NA											23	56					0	0	0.01892	0	0
ATAD5	79915	broad.mit.edu	37	17	29219790	29219790	+	Nonsense_Mutation	SNP	T	T	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:29219790T>G	uc002hfs.1	+	20	4770	c.4424T>G	c.(4423-4425)TTA>TGA	p.L1475*		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1475					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGAAGACTTATTTTCATTT	0.323			NA											25	86					0	0	0.021523	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477876	42477876	+	Silent	SNP	C	C	T	rs149798216		TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:42477876C>T	uc002igw.1	-	8	1633	c.1569G>A	c.(1567-1569)GGG>GGA	p.G523G	GPATCH8_uc002igv.1_Silent_p.G445G|GPATCH8_uc010wiz.1_Silent_p.G445G	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	523						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGCTTTCTTTCCCTGCTGGGG	0.458			NA									OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	54					0	0	0.007413	0	0
TEX2	55852	broad.mit.edu	37	17	62271034	62271034	+	Silent	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:62271034G>C	uc002jec.2	-	4	2234	c.2061C>G	c.(2059-2061)CTC>CTG	p.L687L	TEX2_uc002jed.2_Silent_p.L687L|TEX2_uc002jee.2_Silent_p.L687L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	687					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAAAGAGATAGAGTATCTGAT	0.493			NA											29	104					0	0	0.00632	0	0
CLUL1	27098	broad.mit.edu	37	18	633421	633421	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:633421C>T	uc002kkp.2	+	6	1125	c.980C>T	c.(979-981)GCT>GTT	p.A327V	CLUL1_uc010wys.1_Missense_Mutation_p.A379V|CLUL1_uc002kkq.2_Missense_Mutation_p.A327V	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	327					cell death	extracellular region				ovary(2)	2						AAATGTCAGGCTCACCTATCT	0.303			NA											3	37					0	0	0.014758	0	0
ASXL3	80816	broad.mit.edu	37	18	31322928	31322928	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:31322928C>G	uc010dmg.1	+	12	3171	c.3116C>G	c.(3115-3117)ACT>AGT	p.T1039S	ASXL3_uc002kxq.2_Missense_Mutation_p.T746S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1039					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CGAGCATCCACTAGCACATCT	0.527			NA											8	20					0	0	0.008291	0	0
MAPRE2	10982	broad.mit.edu	37	18	32712020	32712020	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:32712020G>C	uc002kyg.2	+	6	955	c.775G>C	c.(775-777)GAA>CAA	p.E259Q	MAPRE2_uc010xcb.1_Missense_Mutation_p.E216Q|MAPRE2_uc010xcc.1_Missense_Mutation_p.E247Q|MAPRE2_uc002kyh.2_Missense_Mutation_p.E206Q|MAPRE2_uc010xcd.1_Missense_Mutation_p.E216Q	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	259	DCTN1-binding.|APC-binding.|EB1 C-terminal.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1						ACTTGCCCTTGAAGGCGTGGA	0.433			NA											7	33					0	0	0.006214	0	0
SETBP1	26040	broad.mit.edu	37	18	42530706	42530706	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:42530706G>A	uc010dni.2	+	4	1697	c.1401G>A	c.(1399-1401)TTG>TTA	p.L467L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	467						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCTAAGTTGAGTAAAATGA	0.478			NA							Schinzel-Giedion_syndrome				25	79					0	0	0.004656	0	0
ALPK2	115701	broad.mit.edu	37	18	56171257	56171257	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:56171257C>G	uc002lhj.3	-	11	6367	c.6153G>C	c.(6151-6153)TTG>TTC	p.L2051F		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2051	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						ATTCTCTTCTCAAGAAGTTTA	0.478			NA											36	142					0	0	0.015359	0	0
ALPK2	115701	broad.mit.edu	37	18	56171311	56171311	+	Silent	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr18:56171311C>G	uc002lhj.3	-	11	6313	c.6099G>C	c.(6097-6099)CTG>CTC	p.L2033L		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2033	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						ATTCTCCAATCAGCTCCTCCT	0.448			NA											41	155					0	0	0.01441	0	0
CHAF1A	10036	broad.mit.edu	37	19	4418063	4418063	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:4418063G>C	uc002mal.2	+	4	1107	c.1007G>C	c.(1006-1008)AGA>ACA	p.R336T		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	336	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAGCTCAGACTGCAAAGA	0.363			NA						Chromatin_Structure					16	60					0	0	0.003163	0	0
EMR1	2015	broad.mit.edu	37	19	6937389	6937389	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:6937389C>T	uc002mfw.2	+	19	2555	c.2517C>T	c.(2515-2517)TTC>TTT	p.F839F	EMR1_uc010dvc.2_Silent_p.F774F|EMR1_uc010dvb.2_Silent_p.F820F|EMR1_uc010xji.1_Silent_p.F698F|EMR1_uc010xjj.1_Silent_p.F662F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	839	Helical; Name=7; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					AGGGGGCCTTCATCTTCCTCA	0.418			NA											18	95					0	0	0.007413	0	0
ATG4D	84971	broad.mit.edu	37	19	10663624	10663624	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:10663624C>G	uc002mov.2	+	10	1426	c.1306C>G	c.(1306-1308)CAG>GAG	p.Q436E	ATG4D_uc010xlh.1_Missense_Mutation_p.Q373E|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.Q103E	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	436					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGCCATGCTCAGGACCACAG	0.672			NA											14	90					0	0	0.004007	0	0
ZNF382	84911	broad.mit.edu	37	19	37100898	37100898	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:37100898C>G	uc002oek.2	+	3	195	c.82C>G	c.(82-84)CAG>GAG	p.Q28E	ZNF382_uc010efa.2_Intron|ZNF382_uc010efb.2_Missense_Mutation_p.Q27E|ZNF382_uc002oel.2_Missense_Mutation_p.Q28E	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	28	Mediates interaction with TRIM28 (By similarity).|KRAB.|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGACCCTGCTCAGAAGGCGCT	0.478			NA											23	74					0	0	0.012319	0	0
SAE1	10055	broad.mit.edu	37	19	47700569	47700569	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:47700569G>C	uc002pgc.2	+	7	869	c.813G>C	c.(811-813)CAG>CAC	p.Q271H	SAE1_uc002pgd.2_Intron|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.Q97H|SAE1_uc002pge.2_Missense_Mutation_p.Q207H	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	271					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TGTTGCTCCAGATACGAAATG	0.423			NA											17	108					0	0	0.007413	0	0
PIH1D1	55011	broad.mit.edu	37	19	49950696	49950696	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:49950696G>T	uc002pns.2	-	6	794	c.510C>A	c.(508-510)TTC>TTA	p.F170L		NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	170					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TGGAGCCCATGAATGGCCGGT	0.637			NA											13	67					1.5842e-08	1.74262e-08	0.016723	1	0
KCNF1	3754	broad.mit.edu	37	2	11053443	11053443	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:11053443C>T	uc002rax.2	+	1	1381	c.891C>T	c.(889-891)ATC>ATT	p.I297I		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	297	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCATGCGCATCGCGCGCATCT	0.647			NA											4	18					0	0	0.009096	0	0
GCKR	2646	broad.mit.edu	37	2	27720225	27720225	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:27720225G>A	uc002rky.2	+	2	241	c.175G>A	c.(175-177)GAG>AAG	p.E59K	FNDC4_uc002rkx.2_5'Flank|GCKR_uc010ezd.2_Missense_Mutation_p.E59K|GCKR_uc010ylu.1_5'UTR	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	59					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					ATGTGATGCTGAGATCTTCCA	0.537			NA											4	63					0	0	0.009096	0	0
CCDC88A	55704	broad.mit.edu	37	2	55522976	55522976	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:55522976C>T	uc002ryv.2	-	31	6147	c.5305G>A	c.(5305-5307)GCG>ACG	p.A1769T	CCDC88A_uc010yoz.1_Missense_Mutation_p.A1742T|CCDC88A_uc010ypa.1_Intron|CCDC88A_uc002ryt.2_Missense_Mutation_p.A60T|CCDC88A_uc010fbw.2_Missense_Mutation_p.A271T|CCDC88A_uc002ryu.2_Missense_Mutation_p.A1024T|CCDC88A_uc002rys.2_Missense_Mutation_p.A727T|CCDC88A_uc002ryw.2_Missense_Mutation_p.A1053T|CCDC88A_uc010fby.1_Missense_Mutation_p.A621T	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1770					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GGTTTTCCCGCAGAACTAATG	0.403			NA											20	50					0	0	0.007413	0	0
ALMS1	7840	broad.mit.edu	37	2	73651739	73651739	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:73651739G>A	uc002sje.1	+	6	1060	c.949G>A	c.(949-951)GAA>AAA	p.E317K	ALMS1_uc002sjf.1_Missense_Mutation_p.E274K	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	316					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						TTTACCTTCTGAACAAGGGAA	0.413			NA											13	33					0	0	0.013537	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541059	133541059	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:133541059C>G	uc002ttp.2	-	14	3699	c.3325G>C	c.(3325-3327)GAG>CAG	p.E1109Q	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1109	Ser-rich.						protein binding				0						GATGGTGACTCATTTACCCCT	0.488			NA											69	232					0	0	0.01441	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289747	160289747	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:160289747G>T	uc002uao.2	-	9	1773	c.1421C>A	c.(1420-1422)ACA>AAA	p.T474K	BAZ2B_uc002uap.2_Missense_Mutation_p.T472K|BAZ2B_uc002uas.1_Missense_Mutation_p.T411K|BAZ2B_uc002uaq.1_Missense_Mutation_p.T402K|BAZ2B_uc002uar.1_Missense_Mutation_p.T47K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						GTTTTCTAATGTTTGTTTTGG	0.383			NA											66	187					5.89852e-23	6.72575e-23	0.01441	1	0
IFIH1	64135	broad.mit.edu	37	2	163133265	163133265	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:163133265C>T	uc002uce.2	-	11	2458	c.2236G>A	c.(2236-2238)GAA>AAA	p.E746K		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	746	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						ACTCCTACTTCAGCAAATTTT	0.403			NA											22	109					0	0	0.012319	0	0
SCN7A	6332	broad.mit.edu	37	2	167263076	167263076	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:167263076G>A	uc002udu.1	-	25	4190	c.4063C>T	c.(4063-4065)CAC>TAC	p.H1355Y		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1355	Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						CGCAGCATGTGAATGATCCGT	0.448			NA											31	91					0	0	0.009535	0	0
KBTBD10	10324	broad.mit.edu	37	2	170371130	170371130	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:170371130C>T	uc002ueu.1	+	2	1234	c.1157C>T	c.(1156-1158)TCA>TTA	p.S386L	KBTBD10_uc010zdh.1_Missense_Mutation_p.S324L	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	386	Kelch 1.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						CCTCTGCCTTCAGCCAGGTGT	0.433			NA											16	69					0	0	0.004007	0	0
DNAH7	56171	broad.mit.edu	37	2	196892737	196892737	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:196892737C>A	uc002utj.3	-	6	534	c.433G>T	c.(433-435)GAT>TAT	p.D145Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	145	Stem (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						GTGCTTCCATCAGGGACAGCT	0.373			NA											27	114					1.2476e-16	1.40543e-16	0.00632	1	0
TNS1	7145	broad.mit.edu	37	2	218749773	218749773	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:218749773C>T	uc002vgt.2	-	14	1254	c.856G>A	c.(856-858)GAT>AAT	p.D286N	TNS1_uc002vgr.2_Missense_Mutation_p.D286N|TNS1_uc002vgs.2_Missense_Mutation_p.D286N|TNS1_uc010zjv.1_Missense_Mutation_p.D286N|TNS1_uc010fvj.1_Missense_Mutation_p.D354N|TNS1_uc010fvk.1_Missense_Mutation_p.D411N|TNS1_uc002vgu.3_Missense_Mutation_p.D317N|TNS1_uc010fvi.1_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	286	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAAGCATCATCAAGGTCCTCC	0.577			NA											20	76					0	0	0.008871	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886460	228886460	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:228886460C>G	uc002vpq.2	-	6	711	c.664G>C	c.(664-666)GAG>CAG	p.E222Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.E222Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.E222Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	222						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTTCCTCCTCCAAGTGCTCA	0.448			NA											15	54					0	0	0.020292	0	0
SP140	11262	broad.mit.edu	37	2	231150522	231150522	+	Silent	SNP	T	T	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr2:231150522T>C	uc002vql.2	+	17	1735	c.1620T>C	c.(1618-1620)AAT>AAC	p.N540N	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.N426N|SP140_uc002vqm.2_Silent_p.N480N|SP140_uc010fxl.2_Silent_p.N513N	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	540					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)		CGAACGTGAATCTGAAAGACC	0.453			NA											41	104					0	0	0.009718	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675457	3675457	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr20:3675457C>G	uc002wja.2	-	11	2797	c.2797G>C	c.(2797-2799)GAT>CAT	p.D933H	SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.D933H	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	933	Ig-like C2-type 9.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GGCTGGCCATCCCGATACCAA	0.617			NA											15	44					0	0	0.020292	0	0
PHF20	51230	broad.mit.edu	37	20	34451291	34451291	+	Silent	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr20:34451291A>G	uc002xek.1	+	6	888	c.777A>G	c.(775-777)AAA>AAG	p.K259K	PHF20_uc002xei.1_Silent_p.K259K|PHF20_uc010gfo.1_Silent_p.K259K|PHF20_uc002xej.1_Silent_p.K143K|PHF20_uc002xel.1_Silent_p.K121K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	259	A.T hook.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					CCAAAAGAAAACGAGGCAGAC	0.448			NA											28	121					0	0	0.008361	0	0
B4GALT5	9334	broad.mit.edu	37	20	48330165	48330165	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr20:48330165G>A	uc002xuu.3	-	1	257	c.63C>T	c.(61-63)TTC>TTT	p.F21F		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	21	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)			AGAGAGAAAAGAAGAAGAGCG	0.716			NA											3	8					0	0	0.004672	0	0
STX16	8675	broad.mit.edu	37	20	57227056	57227056	+	Translation_Start_Site	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr20:57227056G>A	uc002xzi.2	+	1	729	c.-6G>A	c.(-8--4)GGGTG>GGATG		STX16_uc010zzq.1_Intron|STX16_uc002xzk.2_Translation_Start_Site|STX16_uc002xzm.2_Translation_Start_Site|STX16_uc002xzj.2_Translation_Start_Site|STX16_uc002xzl.2_Translation_Start_Site	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a						intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTCGCAAAGGGTGAGACATGG	0.547			NA											15	62					0	0	0.007413	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61300394	61300394	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr20:61300394G>A	uc002ydb.1	+	11	2194	c.1989G>A	c.(1987-1989)ATG>ATA	p.M663I	SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.M65I	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	663	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			ATTCGGCCATGAGCCGCTACA	0.627	Pancreas(168;741 2006 10379 40139 45334)		NA									OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	50					0	0	0.006214	0	0
NRIP1	8204	broad.mit.edu	37	21	16339865	16339865	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr21:16339865C>G	uc002yjx.2	-	4	1247	c.649G>C	c.(649-651)GAG>CAG	p.E217Q		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	217	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGAGGAGACTCTGCAAACCTA	0.393			NA											7	126					0	0	0.001984	0	0
CRYZL1	9946	broad.mit.edu	37	21	34975721	34975721	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr21:34975721C>T	uc011adw.1	-	7	634	c.454G>A	c.(454-456)GAT>AAT	p.D152N	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.D176N|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	152					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						CTTGCTCCATCCATTATCAGC	0.413			NA											25	93					0	0	0.005443	0	0
UMODL1	89766	broad.mit.edu	37	21	43519164	43519164	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr21:43519164A>G	uc002zaf.1	+	7	1060	c.1060A>G	c.(1060-1062)AGG>GGG	p.R354G	UMODL1_uc002zad.1_Missense_Mutation_p.R282G|UMODL1_uc002zae.1_Missense_Mutation_p.R282G|UMODL1_uc002zag.1_Missense_Mutation_p.R354G|UMODL1_uc010gow.1_Missense_Mutation_p.R146G|UMODL1_uc002zai.1_Missense_Mutation_p.R5G|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.R5G|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.R99G	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	354	Extracellular (Potential).|Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						GGAGTTGCTCAGGAGCGCCAG	0.577	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)		NA											20	70					0	0	0.014323	0	0
SMCR7L	54471	broad.mit.edu	37	22	39909758	39909758	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr22:39909758C>T	uc003axx.2	+	6	1320	c.822C>T	c.(820-822)ATC>ATT	p.I274I	SMCR7L_uc003axw.2_Silent_p.I274I|SMCR7L_uc010gxz.1_Silent_p.I96I|SMCR7L_uc003axy.2_Silent_p.I96I	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	274						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					CTGGCTCCATCAATTGGCCAG	0.567			NA									OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	52					0	0	0.003163	0	0
ACR	49	broad.mit.edu	37	22	51183283	51183283	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr22:51183283C>T	uc003bnh.3	+	5	926	c.914C>T	c.(913-915)CCC>CTC	p.P305L		NM_001097	NP_001088	P10323	ACRO_HUMAN	acrosin precursor	305					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCACCTCCCACCACTCGA	0.597			NA											3	7					0	0	0.004672	0	0
SCN10A	6336	broad.mit.edu	37	3	38738878	38738878	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:38738878C>A	uc003ciq.2	-	27	5833	c.5833G>T	c.(5833-5835)GAA>TAA	p.E1945*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1945					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGGTGGCTTCATCTTCATTT	0.478			NA											26	73					4.26978e-12	4.78113e-12	0.01892	1	0
SETD2	29072	broad.mit.edu	37	3	47079269	47079269	+	Splice_Site	SNP	T	T	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:47079269T>A	uc003cqs.2	-	18	7292	c.7239_splice	c.e18-1	p.R2413_splice	SETD2_uc003cqv.2_Splice_Site_p.R2480_splice|SETD2_uc003cqr.2_Splice_Site_p.L12_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGTCTGCCTAGAAAGAGAC	0.448			NA	N|F|S|Mis		clear cell renal carcinoma								17	37					0	0	0.006122	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299881	112299881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:112299881C>A	uc003dze.2	+	6	1162	c.917C>A	c.(916-918)TCA>TAA	p.S306*		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	306	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						AGTGCATTTTCAGTAGCCCTT	0.438			NA											18	58					8.00594e-06	8.50631e-06	0.007413	1	0
DTX3L	151636	broad.mit.edu	37	3	122288101	122288101	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:122288101G>C	uc003efk.2	+	3	1254	c.1165G>C	c.(1165-1167)GAA>CAA	p.E389Q	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	389					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		TAAACTTTTAGAAACTGAATT	0.353			NA											3	107					0	0	0.014758	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735843	126735843	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:126735843G>A	uc003ejg.2	+	16	3174	c.3170G>A	c.(3169-3171)CGA>CAA	p.R1057Q		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1080	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)		CGTGAACCCCGAATCCGGGCC	0.647			NA											15	41					0	0	0.00499	0	0
TPRA1	131601	broad.mit.edu	37	3	127294624	127294624	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:127294624T>C	uc003ejl.2	-	7	929	c.638A>G	c.(637-639)AAG>AGG	p.K213R	TPRA1_uc003ejm.2_Intron|TPRA1_uc003ejo.2_Missense_Mutation_p.K213R|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejn.2_Missense_Mutation_p.K213R	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	213					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						CAGCGGGGTCTTGGGAAGGAT	0.647			NA											3	71					0	0	0.004672	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513851	143513851	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr3:143513851G>A	uc003evn.2	-	4	707	c.525C>T	c.(523-525)ATC>ATT	p.I175I	SLC9A9_uc011bnk.1_Silent_p.I49I	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	175	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						ACCCTATGACGATGCAGGAGA	0.448			NA											25	63					0	0	0.005443	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	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	Colon(199;1504 1750 3362 26421 31210 32040)	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)			13	45					0	0	0.020292	0	0
CCKAR	886	broad.mit.edu	37	4	26483452	26483452	+	Silent	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr4:26483452G>T	uc003gse.1	-	5	1248	c.1095C>A	c.(1093-1095)GTC>GTA	p.V365V		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	365	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	TGATGGGGTTGACGCAGGAGG	0.642			NA											19	89					5.03518e-11	5.60464e-11	0.007413	1	0
HELQ	113510	broad.mit.edu	37	4	84374727	84374727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr4:84374727C>T	uc003hom.2	-	2	848	c.669G>A	c.(667-669)TGG>TGA	p.W223*	HELQ_uc010ikb.2_Nonsense_Mutation_p.W223*|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Nonsense_Mutation_p.W117*|HELQ_uc003hoo.1_Nonsense_Mutation_p.W186*|HELQ_uc003hop.1_Nonsense_Mutation_p.W117*|HELQ_uc003hoq.1_Nonsense_Mutation_p.W223*|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	223							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AGGATGACTTCCAATCCCTTT	0.393			NA						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					14	89					0	0	0.004007	0	0
ANP32C	23520	broad.mit.edu	37	4	165118814	165118814	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr4:165118814G>C	uc011cjk.1	-	1	50	c.50C>G	c.(49-51)TCT>TGT	p.S17C	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	17											0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TTTCACATCAGAGGGCGCCCT	0.502			NA											39	126					0	0	0.006999	0	0
STOX2	56977	broad.mit.edu	37	4	184931234	184931234	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr4:184931234G>A	uc003ivz.1	+	3	2678	c.1243G>A	c.(1243-1245)GAA>AAA	p.E415K	STOX2_uc003iwa.1_Missense_Mutation_p.E104K	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	415					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTCATCATTGAACACAAAGG	0.343			NA											5	15					0	0	0.014758	0	0
CTNND2	1501	broad.mit.edu	37	5	11364847	11364847	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:11364847G>C	uc003jfa.1	-	8	1478	c.1333C>G	c.(1333-1335)CTG>GTG	p.L445V	CTNND2_uc010itt.2_Missense_Mutation_p.L354V|CTNND2_uc011cmy.1_Missense_Mutation_p.L108V|CTNND2_uc011cmz.1_Missense_Mutation_p.L12V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.L12V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	445					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GCTGGCGGCAGAGGGTCCCCC	0.637			NA											7	38					0	0	0.004482	0	0
CDH12	1010	broad.mit.edu	37	5	21817092	21817092	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:21817092C>T	uc010iuc.2	-	6	1422	c.964G>A	c.(964-966)GAT>AAT	p.D322N	CDH12_uc011cno.1_Missense_Mutation_p.D282N|CDH12_uc003jgk.2_Missense_Mutation_p.D322N	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	322	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GTATCCTCATCTGTGACGATG	0.323			NA								HNSCC(59;0.17)			20	112					0	0	0.016522	0	0
CDH12	1010	broad.mit.edu	37	5	21817190	21817190	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:21817190C>T	uc010iuc.2	-	6	1324	c.866G>A	c.(865-867)GGA>GAA	p.G289E	CDH12_uc011cno.1_Missense_Mutation_p.G249E|CDH12_uc003jgk.2_Missense_Mutation_p.G289E	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	289	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TCTTATTCTTCCAATAGCTGA	0.378			NA								HNSCC(59;0.17)			11	53					0	0	0.010729	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382477	41382477	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:41382477A>G	uc003jmm.1	-	2	365	c.263T>C	c.(262-264)CTA>CCA	p.L88P		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	88	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						TCCAGCTCCTAGCTGGCCAGT	0.443			NA											16	56					0	0	0.006122	0	0
PGGT1B	5229	broad.mit.edu	37	5	114573691	114573691	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:114573691G>A	uc003kqw.3	-	4	364	c.343C>T	c.(343-345)CAT>TAT	p.H115Y	PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Missense_Mutation_p.H115Y	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	115					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	TCATAAGGATGAGCTGTTCCA	0.343			NA											16	53					0	0	0.004007	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182415	140182415	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:140182415C>G	uc003lhf.2	+	1	1633	c.1633C>G	c.(1633-1635)CTG>GTG	p.L545V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.L545V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	545	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCGCCTCTGGGCAGCAA	0.682			NA											46	136					0	0	0.01441	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481005	140481005	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:140481005A>G	uc003lio.2	+	1	772	c.772A>G	c.(772-774)AAC>GAC	p.N258D	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	258	Extracellular (Potential).|Cadherin 3.				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)			TACCCCCGTTAACTCTGTCAT	0.418			NA											31	85					0	0	0.013726	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580847	140580847	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:140580847C>T	uc003liy.2	+	1	1500	c.1500C>T	c.(1498-1500)CTC>CTT	p.L500L	PCDHB11_uc011daj.1_Silent_p.L135L	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	500	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCCCTCGCCTCCCTGG	0.647			NA											76	215					0	0	0.01441	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789016	140789016	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:140789016C>A	uc003lkj.1	+	1	1247	c.1247C>A	c.(1246-1248)CCA>CAA	p.P416Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.P416Q	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	416	Extracellular (Potential).|Cadherin 4.				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)			GAGCAGACACCAGAATACAAT	0.463			NA											14	51					9.31168e-06	9.83776e-06	0.016723	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149221931	149221931	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr5:149221931G>C	uc003lrc.2	+	10	2849	c.2807G>C	c.(2806-2808)AGA>ACA	p.R936T	PPARGC1B_uc003lrb.1_Missense_Mutation_p.R936T|PPARGC1B_uc003lrd.2_Missense_Mutation_p.R897T|PPARGC1B_uc003lrf.2_Missense_Mutation_p.R915T|PPARGC1B_uc003lre.1_Missense_Mutation_p.R915T	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	936	RRM.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTGCTGACAAGAAATAGGAGG	0.507			NA											13	52					0	0	0.016723	0	0
ATXN1	6310	broad.mit.edu	37	6	16327909	16327909	+	Missense_Mutation	SNP	A	A	C	rs59310777	by1000genomes	TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:16327909A>C	uc003nbt.2	-	8	1604	c.633T>G	c.(631-633)CAT>CAG	p.H211Q	ATXN1_uc010jpi.2_Missense_Mutation_p.H211Q|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgatgctgatgct	0.383			NA											3	20					0	0	0.004672	0	0
BAT3	7917	broad.mit.edu	37	6	31609167	31609167	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:31609167G>A	uc003nvg.3	-	18	2816	c.2502C>T	c.(2500-2502)ATC>ATT	p.I834I	BAT3_uc003nvf.3_Silent_p.I828I|BAT3_uc003nvh.3_Silent_p.I828I|BAT3_uc003nvi.3_Silent_p.I828I|BAT3_uc011dnw.1_Silent_p.I828I|BAT3_uc011dnx.1_Silent_p.I702I	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	834					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						TTGTCCGGATGATGTCCACAC	0.522			NA											43	168					0	0	0.013114	0	0
MSH5	4439	broad.mit.edu	37	6	31711739	31711739	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:31711739C>T	uc003nwv.1	+	6	553	c.474C>T	c.(472-474)GCC>GCT	p.A158A	MSH5_uc003nwt.1_Silent_p.A158A|MSH5_uc003nwu.1_Silent_p.A158A|MSH5_uc003nww.1_Silent_p.A158A|MSH5_uc003nwx.1_Silent_p.A158A|MSH5_uc011dof.1_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	158					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						TCCCAGACGCCATGACTGCCA	0.468			NA						Direct_reversal_of_damage|MMR					45	624					0	0	0.013114	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779455	31779455	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:31779455C>T	uc003nxh.2	-	2	478	c.295G>A	c.(295-297)GAA>AAA	p.E99K	HSPA1L_uc010jte.2_Missense_Mutation_p.E99K	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	99					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						TTGCCTCCTTCATTAATCACT	0.413			NA											25	179					0	0	0.004656	0	0
GLP1R	2740	broad.mit.edu	37	6	39025255	39025255	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:39025255C>T	uc003ooj.3	+	3	243	c.183C>T	c.(181-183)TTC>TTT	p.F61F	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	61	Extracellular (Potential).				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CAGACTTGTTCTGCAACCGGA	0.617			NA											7	39					0	0	0.004482	0	0
ZNF318	24149	broad.mit.edu	37	6	43323114	43323114	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:43323114G>A	uc003oux.2	-	4	2036	c.1958C>T	c.(1957-1959)TCA>TTA	p.S653L	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	653					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCGGTCAGCTGAGAAGCGGTG	0.537			NA											27	88					0	0	0.007291	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121752	117121752	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:117121752G>T	uc003pxj.1	-	4	1565	c.1543C>A	c.(1543-1545)CTT>ATT	p.L515I	GPRC6A_uc003pxk.1_Missense_Mutation_p.L340I|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	515	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTACCTTAAGATTCCTGAAC	0.299			NA											25	43					9.57634e-11	1.05963e-10	0.01892	1	0
GPRC6A	222545	broad.mit.edu	37	6	117121789	117121789	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:117121789G>A	uc003pxj.1	-	4	1528	c.1506C>T	c.(1504-1506)ATC>ATT	p.I502I	GPRC6A_uc003pxk.1_Silent_p.I327I|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	502	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATCTGGGATGATGAAGACAT	0.363			NA											33	51					0	0	0.019004	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127639	117127639	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:117127639C>A	uc003pxj.1	-	3	1251	c.1229G>T	c.(1228-1230)GGA>GTA	p.G410V	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.G410V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	410	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGAATGAGTCCTGGCTCAGC	0.463			NA											14	28					3.27435e-08	3.55991e-08	0.020292	1	0
IFNGR1	3459	broad.mit.edu	37	6	137524823	137524823	+	Splice_Site	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:137524823C>G	uc003qho.2	-	5	650	c.547_splice	c.e5-1	p.I183_splice	IFNGR1_uc011edm.1_Splice_Site_p.I155_splice|IFNGR1_uc011edn.1_Nonstop_Mutation_p.*187Y	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor						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)	TATACTGGATCTAGATGAAAA	0.343			NA											9	22					0	0	0.004482	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081564	143081564	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:143081564G>C	uc003qjd.2	-	9	6604	c.5861C>G	c.(5860-5862)CCC>CGC	p.P1954R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1954					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AACCCCGTGGGGTACGGCGCC	0.478	Esophageal Squamous(107;843 1510 13293 16805 42198)		NA											15	40					0	0	0.00499	0	0
SNX9	51429	broad.mit.edu	37	6	158330983	158330983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:158330983G>A	uc003qqv.1	+	9	1048	c.875G>A	c.(874-876)TGG>TAG	p.W292*		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	292	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CACTTTGACTGGTTATATGAG	0.408			NA											22	42					0	0	0.012319	0	0
LPA	4018	broad.mit.edu	37	6	161032594	161032594	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:161032594G>A	uc003qtl.2	-	17	2723	c.2603C>T	c.(2602-2604)GCT>GTT	p.A868V		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3376	Kringle 30.				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			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)	AAAGACATACGCATTTGGGTA	0.468			NA											115	265					0	0	0.01441	0	0
SNX8	29886	broad.mit.edu	37	7	2296529	2296529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:2296529G>A	uc003slw.2	-	10	1307	c.1264C>T	c.(1264-1266)CAG>TAG	p.Q422*		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	422					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCTTGGATCTGAGAGTTGACG	0.647			NA											6	29					0	0	0.00308	0	0
USP42	84132	broad.mit.edu	37	7	6189606	6189606	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:6189606G>A	uc011jwo.1	+	13	1902	c.1779G>A	c.(1777-1779)ATG>ATA	p.M593I	USP42_uc010kth.1_Missense_Mutation_p.M526I|USP42_uc011jwp.1_Missense_Mutation_p.M593I|USP42_uc011jwq.1_Missense_Mutation_p.M400I|USP42_uc011jwr.1_Missense_Mutation_p.M438I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	593					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGCCCGTGATGAATGGCAAAT	0.537			NA											6	28					0	0	0.001168	0	0
TYW1B	441250	broad.mit.edu	37	7	72159743	72159743	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:72159743G>A	uc011kej.1	-	14	1599	c.1440C>T	c.(1438-1440)ATC>ATT	p.I480I	TYW1B_uc011keh.1_Silent_p.I318I|TYW1B_uc011kei.1_Silent_p.I106I	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B isoform	480					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity				0						GTGGGCGGTCGATTTTCTTCA	0.388			NA											14	35					0	0	0.003163	0	0
MUC17	140453	broad.mit.edu	37	7	100687057	100687057	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:100687057G>C	uc003uxp.1	+	3	12413	c.12360G>C	c.(12358-12360)AAG>AAC	p.K4120N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4120	Extracellular (Potential).					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)					CTACAATTAAGAGCAACCCCA	0.418			NA											4	106					0	0	0.009096	0	0
FLNC	2318	broad.mit.edu	37	7	128488927	128488927	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:128488927G>C	uc003vnz.3	+	28	5027	c.4818G>C	c.(4816-4818)ATG>ATC	p.M1606I	FLNC_uc003voa.3_Missense_Mutation_p.M1606I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1606	Filamin 14.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TGCCGGACATGAGTGGCCGGT	0.602			NA											28	70					0	0	0.005443	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:140453136A>T	uc003vwc.3	-	15	1860	c.1799T>A	c.(1798-1800)GTG>GAG	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	Colon(40;35 892 2973 5743 27438)	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				15	48					0	0	0.003163	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475488	157475488	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr7:157475488G>C	uc003wno.2	-	13	2051	c.1930C>G	c.(1930-1932)CAG>GAG	p.Q644E	PTPRN2_uc003wnp.2_Missense_Mutation_p.Q627E|PTPRN2_uc003wnq.2_Missense_Mutation_p.Q615E|PTPRN2_uc003wnr.2_Missense_Mutation_p.Q606E|PTPRN2_uc011kwa.1_Missense_Mutation_p.Q667E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	644	Cytoplasmic (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGCCTGTGCTGAGAGCTATGG	0.592			NA											31	102					0	0	0.015359	0	0
MTMR7	9108	broad.mit.edu	37	8	17169138	17169138	+	Nonsense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:17169138G>C	uc003wxm.2	-	9	1222	c.983C>G	c.(982-984)TCA>TGA	p.S328*	MTMR7_uc003wxn.2_Nonsense_Mutation_p.S107*|MTMR7_uc011kya.1_5'UTR|MTMR7_uc011kyb.1_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	328	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		CCCTTCCTCTGACACTGCCTA	0.522			NA											102	384					0	0	0.01441	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68150629	68150629	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:68150629G>A	uc003xxo.1	-	22	3628	c.3238C>T	c.(3238-3240)CTT>TTT	p.L1080F	ARFGEF1_uc003xxl.1_Missense_Mutation_p.L534F|ARFGEF1_uc003xxn.1_Missense_Mutation_p.L63F	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1080					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTCCAGTAAGAGATCCTTCT	0.408			NA											17	55					0	0	0.006122	0	0
CA3	761	broad.mit.edu	37	8	86352077	86352077	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:86352077G>C	uc003ydj.2	+	2	254	c.171G>C	c.(169-171)AAG>AAC	p.K57N	CA13_uc003ydf.1_RNA|CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	57					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						GCTCTGCCAAGACCATCCTGA	0.458			NA											13	52					0	0	0.016723	0	0
PTDSS1	9791	broad.mit.edu	37	8	97311998	97311998	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:97311998A>G	uc003yht.1	+	6	779	c.677A>G	c.(676-678)AAT>AGT	p.N226S	PTDSS1_uc003yhu.1_Missense_Mutation_p.N80S	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	226	Helical; (Potential).				phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTGTTGTGCAATGGCGGTGGC	0.493			NA											38	162					0	0	0.017118	0	0
HAS2	3037	broad.mit.edu	37	8	122626891	122626891	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:122626891G>A	uc003yph.2	-	4	1655	c.1117C>T	c.(1117-1119)CAC>TAC	p.H373Y		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	373	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATCCACAAGTGATGTTTGTGA	0.433			NA											4	139					0	0	0.009096	0	0
FER1L6	654463	broad.mit.edu	37	8	124968250	124968250	+	Silent	SNP	G	G	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr8:124968250G>A	uc003yqw.2	+	2	218	c.12G>A	c.(10-12)CTG>CTA	p.L4L		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	4	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)			TGTTTGGGCTGAAGGTGAAGA	0.443			NA											3	24					0	0	0.001168	0	0
TNC	3371	broad.mit.edu	37	9	117808761	117808761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr9:117808761C>A	uc004bjj.3	-	17	5415	c.5053G>T	c.(5053-5055)GAA>TAA	p.E1685*	TNC_uc010mvf.2_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1685	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						ATTTCGTATTCAGTAGCCTCT	0.443			NA											72	146					1.93348e-29	2.21816e-29	0.01441	1	0
DENND1A	57706	broad.mit.edu	37	9	126214606	126214606	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr9:126214606C>T	uc004bnz.1	-	17	1481	c.1248G>A	c.(1246-1248)CTG>CTA	p.L416L	DENND1A_uc011lzl.1_Silent_p.L191L|DENND1A_uc004bny.1_Silent_p.L155L|DENND1A_uc011lzm.1_Silent_p.L384L|DENND1A_uc004boa.1_Silent_p.L416L|DENND1A_uc004bob.1_Silent_p.L386L|DENND1A_uc004boc.2_Silent_p.L384L	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	416						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						TTACAGTATTCAGAATTGCTC	0.418			NA											13	47					0	0	0.016723	0	0
SPTAN1	6709	broad.mit.edu	37	9	131344062	131344062	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr9:131344062C>T	uc004bvl.3	+	12	1576	c.1463C>T	c.(1462-1464)GCG>GTG	p.A488V	SPTAN1_uc011mbg.1_Missense_Mutation_p.A488V|SPTAN1_uc011mbh.1_Missense_Mutation_p.A500V|SPTAN1_uc004bvm.3_Missense_Mutation_p.A488V|SPTAN1_uc004bvn.3_Missense_Mutation_p.A488V	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	488	Spectrin 6.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TTTGGCAAGGCGTTCCTGTTG	0.413	NSCLC(120;833 1744 2558 35612 37579)		NA											44	184					0	0	0.01441	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280592	105280592	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:105280592A>T	uc004eme.1	-	1	474	c.458T>A	c.(457-459)CTC>CAC	p.L153H	SERPINA7_uc010npd.2_Missense_Mutation_p.L153H|SERPINA7_uc010npe.1_Missense_Mutation_p.L153H	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	153					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGTCTCATAGAGGGTCTTGAC	0.428			NA											56	176					0	0	0.01441	0	0
CUL4B	8450	broad.mit.edu	37	X	119678408	119678408	+	Silent	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:119678408C>T	uc004esw.2	-	8	1502	c.1065G>A	c.(1063-1065)GAG>GAA	p.E355E	CUL4B_uc010nqq.2_Silent_p.E54E|CUL4B_uc004esv.2_Silent_p.E337E	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	355					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TCCTTTCCCTCTCAATCAAGA	0.363			NA											21	70					0	0	0.012319	0	0
USP26	83844	broad.mit.edu	37	X	132159788	132159788	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:132159788C>T	uc010nrm.1	-	6	2931	c.2461G>A	c.(2461-2463)GAT>AAT	p.D821N	USP26_uc011mvf.1_Missense_Mutation_p.D821N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	821					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					TAGGTATGATCTCCCTTATCA	0.383	NSCLC(104;342 1621 36940 47097 52632)		NA											23	98					0	0	0.014323	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798344	148798344	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:148798344C>A	uc004fdq.2	+	5	1300	c.1198C>A	c.(1198-1200)CTT>ATT	p.L400I	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.L371I	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	400	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATGAAAGTTCTTGAGTACAT	0.537			NA											49	168					1.86633e-21	2.11518e-21	0.01441	1	0
MAGEA11	4110	broad.mit.edu	37	X	148798377	148798377	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:148798377C>T	uc004fdq.2	+	5	1333	c.1231C>T	c.(1231-1233)CCC>TCC	p.P411S	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.P382S	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	411	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGGAGGGATCCCACTTCTTA	0.547			NA											39	129					0	0	0.005524	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935914	151935914	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chrX:151935914C>G	uc004fgp.2	-	3	462	c.253G>C	c.(253-255)GAG>CAG	p.E85Q		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	85											0	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTCCTCATAGGATTGG	0.597			NA											26	74					0	0	0.008361	0	0
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr16:3119304_3119305insG	uc002cto.2	+	6	864_865	c.653_654insG	c.(652-654)GACfs	p.D218fs	IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1						CCACGGGGGGACAAGGAGGAGC	0.574			NA											7	235	---	---	---	---	NA	NA	NA	NA	NA
CBX4	8535	broad.mit.edu	37	17	77808163	77808164	+	Frame_Shift_Ins	INS	-	-	T			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr17:77808163_77808164insT	uc002jxe.2	-	5	1440_1441	c.1277_1278insA	c.(1276-1278)AAGfs	p.K426fs		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	426	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAGTCAGCCGCTTCTTGCAGGG	0.658			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
KLC3	147700	broad.mit.edu	37	19	45849956	45849956	+	Frame_Shift_Del	DEL	C	C	-			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr19:45849956delC	uc002pbf.1	+	3	528	c.413delC	c.(412-414)GCCfs	p.A138fs	KLC3_uc002pbe.2_Frame_Shift_Del_p.A138fs|KLC3_uc010ejy.1_Frame_Shift_Del_p.A138fs|KLC3_uc002pbg.1_Frame_Shift_Del_p.A152fs	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	138	Potential.					cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAGTCCGTGGCCCAGCTGGAG	0.731			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
SFRS18	25957	broad.mit.edu	37	6	99849436	99849437	+	Frame_Shift_Ins	INS	-	-	A			TCGA-80-5607-01A-31D-1945-08	TCGA-80-5607-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5dc36fad-2325-4794-9e3a-2394ba3f0932	6117e1f9-4015-49f5-aff3-6022fbd0bb3e	g.chr6:99849436_99849437insA	uc003ppo.3	-	12	1625_1626	c.1397_1398insT	c.(1396-1398)TTAfs	p.L466fs	SFRS18_uc003ppl.2_Frame_Shift_Ins_p.L12fs|SFRS18_uc003ppp.3_Frame_Shift_Ins_p.L466fs|SFRS18_uc011eag.1_Frame_Shift_Ins_p.L466fs	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	466						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		CTAGTAGTGATAAACTATTTTG	0.332			NA											16	46	---	---	---	---	NA	NA	NA	NA	NA
