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
HPCA	3208	broad.mit.edu	37	1	33354743	33354743	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:33354743T>A	uc001bwh.2	+	2	284	c.244T>A	c.(244-246)TTT>ATT	p.F82I		NM_002143	NP_002134	P84074	HPCA_HUMAN	hippocalcin	82	EF-hand 2.|1 (Potential).						actin binding|calcium ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CACCATAGACTTTCGGGAGTT	0.567			NA											27	49					0	0	0.007291	0	0
SMAP2	64744	broad.mit.edu	37	1	40882768	40882769	+	Splice_Site	DNP	GG	GG	TT			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:40882768_40882769GG>TT	uc001cfj.2	+	9	1229	c.1164_splice	c.e9+1	p.Q388_splice	SMAP2_uc001cfk.2_Splice_Site_p.Q358_splice|SMAP2_uc010oji.1_Splice_Site_p.Q305_splice|SMAP2_uc010ojj.1_Splice_Site_p.Q204_splice	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			ACCTTACTCAGGTAAGCTACCC	0.505			NA											3	19					0	0	0.004672	0	0
C1orf168	199920	broad.mit.edu	37	1	57252852	57252852	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:57252852C>A	uc001cym.3	-	4	1355	c.949G>T	c.(949-951)GAG>TAG	p.E317*	C1orf168_uc009vzu.1_RNA	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	317										ovary(3)|skin(2)	5						ACTTACCTCTCTGGAGACAGG	0.488			NA											8	99					1.58986e-06	2.06874e-06	0.008291	1	0
KCNH1	3756	broad.mit.edu	37	1	211280615	211280615	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:211280615G>T	uc001hib.2	-	2	354	c.184C>A	c.(184-186)CAA>AAA	p.Q62K	KCNH1_uc001hic.2_Missense_Mutation_p.Q62K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	62	Cytoplasmic (Potential).|PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTGCTTTTTTGCATCACTTCT	0.408			NA											22	114					2.98393e-07	3.97858e-07	0.00278	1	0
KCTD3	51133	broad.mit.edu	37	1	215792243	215792243	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:215792243G>T	uc001hks.2	+	16	1872	c.1578G>T	c.(1576-1578)CAG>CAT	p.Q526H	KCTD3_uc001hkt.2_Missense_Mutation_p.Q526H|KCTD3_uc010pub.1_Missense_Mutation_p.Q424H|KCTD3_uc009xdn.2_Missense_Mutation_p.Q250H	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	526						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTGAGATCCAGGCTGTTGACT	0.413			NA											13	52					0.000151284	0.000181541	0.001855	1	0
OR2W3	343171	broad.mit.edu	37	1	248059653	248059653	+	Silent	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:248059653C>A	uc001idp.1	+	3	1034	c.765C>A	c.(763-765)ATC>ATA	p.I255I	OR2W3_uc010pzb.1_Silent_p.I255I	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGGAAACATCATCTACATGT	0.527			NA											6	105					8.12818e-05	9.86341e-05	0.001984	1	0
OR2L1P	26247	broad.mit.edu	37	1	248154224	248154224	+	Missense_Mutation	SNP	C	C	T	rs4925586	by1000genomes	TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:248154224C>T	uc001idv.1	+	1	656	c.412C>T	c.(412-414)CGG>TGG	p.R138W	OR2L13_uc001ids.2_Intron	NR_002145				RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53;												0						TTCCTATGGCCGGATTCTCCT	0.498			NA											23	42					0	0	0.00278	0	0
RBP3	5949	broad.mit.edu	37	10	48385969	48385969	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr10:48385969G>T	uc001jez.2	-	2	3237	c.3123C>A	c.(3121-3123)AAC>AAA	p.N1041K		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1041	4 X approximate tandem repeats.|4.				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)	AGTAGCCAATGTTGTCCTCAA	0.507			NA											5	106					3.59834e-05	4.51884e-05	0.001168	1	0
OR4C15	81309	broad.mit.edu	37	11	55322400	55322400	+	Silent	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr11:55322400C>T	uc010rig.1	+	1	618	c.618C>T	c.(616-618)CTC>CTT	p.L206L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CAGGGGGCCTCTTGCATTCCA	0.468			NA								HNSCC(20;0.049)			6	70					0	0	0.001168	0	0
RSF1	51773	broad.mit.edu	37	11	77378462	77378462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr11:77378462G>A	uc001oyn.2	-	16	3946	c.3826C>T	c.(3826-3828)CGA>TGA	p.R1276*	RSF1_uc001oym.2_Nonsense_Mutation_p.R1024*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1276					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTGTGCTTCGGCCCCGCTTT	0.488			NA											5	76					0	0	0.001168	0	0
ALG9	79796	broad.mit.edu	37	11	111708285	111708285	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr11:111708285G>A	uc001pmb.2	-	13	1456	c.1357C>T	c.(1357-1359)CCA>TCA	p.P453S	ALG9_uc001ply.2_Missense_Mutation_p.P282S|ALG9_uc001plz.2_Missense_Mutation_p.P289S|ALG9_uc010rwm.1_Missense_Mutation_p.P460S|ALG9_uc010rwn.1_Missense_Mutation_p.P407S|ALG9_uc010rwo.1_Missense_Mutation_p.P281S|ALG9_uc009yyh.1_Missense_Mutation_p.P348S	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN	asparagine-linked glycosylation 9 protein	453	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			large_intestine(1)|ovary(1)	2		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TGGATGGTTGGGTCTGTAGCA	0.473			NA											19	30					0	0	0.008871	0	0
C12orf39	80763	broad.mit.edu	37	12	21679861	21679861	+	Silent	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr12:21679861G>T	uc001rfa.1	+	2	199	c.48G>T	c.(46-48)CTG>CTT	p.L16L	C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	spexin precursor	16						extracellular region|nucleus|transport vesicle					0						CTCTTTTCCTGGTGTTTGTTT	0.448			NA											7	69					2.17888e-05	2.76846e-05	0.006214	1	0
TMTC1	83857	broad.mit.edu	37	12	29786142	29786142	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr12:29786142C>A	uc001rjb.2	-	6	1216	c.742G>T	c.(742-744)GCC>TCC	p.A248S	TMTC1_uc001riz.2_Missense_Mutation_p.A5S|TMTC1_uc001rja.2_Missense_Mutation_p.A92S|TMTC1_uc001rjc.1_Missense_Mutation_p.A310S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	356	Helical; (Potential).					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAGATGGTGGCTAAGTTCCGC	0.483			NA											9	58					7.48243e-07	9.85491e-07	0.006214	1	0
MGAT4C	25834	broad.mit.edu	37	12	86377333	86377333	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr12:86377333C>T	uc001tai.3	-	7	1513	c.263G>A	c.(262-264)CGC>CAC	p.R88H	MGAT4C_uc001tal.3_Missense_Mutation_p.R88H|MGAT4C_uc001taj.3_Missense_Mutation_p.R88H|MGAT4C_uc001tak.3_Missense_Mutation_p.R88H|MGAT4C_uc010sum.1_Missense_Mutation_p.R112H|MGAT4C_uc001tah.3_Missense_Mutation_p.R88H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	88	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						AGCTAGGTAGCGATAGGTGAC	0.318			NA											12	137					0	0	0.00245	0	0
DHX37	57647	broad.mit.edu	37	12	125441662	125441662	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr12:125441662G>A	uc001ugy.2	-	17	2276	c.2177C>T	c.(2176-2178)CCG>CTG	p.P726L		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	726							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGGGGCGTCGGGAAGGGGAA	0.622			NA											18	76					0	0	0.010504	0	0
NRXN3	9369	broad.mit.edu	37	14	79117585	79117585	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr14:79117585C>A	uc001xun.2	+	3	509	c.18C>A	c.(16-18)GAC>GAA	p.D6E	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.D140E	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	379	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTCGGACGACTTCTTCTATG	0.522			NA											34	70					1.00001e-27	1.42106e-27	0.009718	1	0
AQR	9716	broad.mit.edu	37	15	35149010	35149010	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:35149010G>C	uc001ziv.2	-	35	4622	c.4441C>G	c.(4441-4443)CCA>GCA	p.P1481A		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1481						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTCTCTTCCGGGGCAGATGTG	0.473			NA											7	77					0	0	0.00308	0	0
SLC12A1	6557	broad.mit.edu	37	15	48527175	48527175	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:48527175G>C	uc001zwn.3	+	9	1405	c.1189G>C	c.(1189-1191)GGT>CGT	p.G397R	SLC12A1_uc010uew.1_Missense_Mutation_p.G203R|SLC12A1_uc010bem.2_Missense_Mutation_p.G397R|SLC12A1_uc010uex.1_Missense_Mutation_p.G397R|SLC12A1_uc001zwq.3_Missense_Mutation_p.G168R|SLC12A1_uc001zwr.3_Missense_Mutation_p.G124R	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	397	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GATTCTTGCTGGTGCCAATAT	0.483			NA											40	101					0	0	0.013114	0	0
UNC13C	440279	broad.mit.edu	37	15	54707189	54707189	+	Silent	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:54707189A>G	uc002ack.2	+	17	4857	c.4857A>G	c.(4855-4857)CAA>CAG	p.Q1619Q	UNC13C_uc002acl.2_Silent_p.Q449Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1619					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGTTTCCTCAAGAGCTGAACA	0.303			NA											6	46					0	0	0.001168	0	0
CGNL1	84952	broad.mit.edu	37	15	57823948	57823948	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:57823948T>C	uc002aeg.2	+	14	3338	c.3262T>C	c.(3262-3264)TCT>CCT	p.S1088P	CGNL1_uc010bfw.2_Missense_Mutation_p.S1088P	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1088	Potential.			S -> T (in Ref. 3; BAB55415).		myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGATTTGCTGTCTGAGAGGAT	0.443			NA											8	119					0	0	0.006214	0	0
BBS4	585	broad.mit.edu	37	15	73016905	73016905	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:73016905A>G	uc002avb.2	+	8	539	c.496A>G	c.(496-498)AGG>GGG	p.R166G	BBS4_uc010ukv.1_Missense_Mutation_p.R154G|BBS4_uc002avc.2_Translation_Start_Site|BBS4_uc002avd.2_Missense_Mutation_p.R174G|BBS4_uc010bja.2_Translation_Start_Site	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	166	Interaction with PCM1.|TPR 3.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						GAATCTTAATAGGCACGATCT	0.408			NA							Bardet-Biedl_syndrome				3	91					0	0	0.004672	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749976	79749976	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:79749976G>A	uc002bew.1	+	2	1562	c.1487G>A	c.(1486-1488)GGC>GAC	p.G496D	KIAA1024_uc010unk.1_Missense_Mutation_p.G496D	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	496						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TCTGGTCAGGGCAAGTACAGT	0.537			NA											13	24					0	0	0.013537	0	0
MAN2A2	4122	broad.mit.edu	37	15	91453496	91453496	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:91453496A>C	uc010bnz.2	+	10	1666	c.1551A>C	c.(1549-1551)TTA>TTC	p.L517F	MAN2A2_uc010boa.2_Missense_Mutation_p.L559F|MAN2A2_uc002bqc.2_Missense_Mutation_p.L517F|MAN2A2_uc010uql.1_Missense_Mutation_p.L179F|MAN2A2_uc010uqm.1_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	517	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACAAGAGCTTAGACCGAGTCC	0.592			NA											7	55					0	0	0.00308	0	0
PRDM7	11105	broad.mit.edu	37	16	90128521	90128521	+	Silent	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr16:90128521C>T	uc010cje.2	-	7	710	c.690G>A	c.(688-690)GTG>GTA	p.V230V	PRDM7_uc002fqo.2_Silent_p.V24V|PRDM7_uc010cjf.2_Silent_p.V113V|PRDM7_uc010cjg.1_Silent_p.V24V|PRDM7_uc010cjh.1_RNA	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	230						chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCCCTTGTCCACTGCACTGT	0.567			NA											13	37					0	0	0.013537	0	0
ITGAE	3682	broad.mit.edu	37	17	3664699	3664699	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:3664699A>T	uc002fwo.3	-	5	530	c.431T>A	c.(430-432)CTT>CAT	p.L144H		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	144	Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATCCTTACCAAGGTCGAAGAA	0.587	NSCLC(182;635 2928 8995 38788)		NA											4	71					0	0	0.009096	0	0
BCL6B	255877	broad.mit.edu	37	17	6927925	6927925	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:6927925A>T	uc002geg.2	+	4	664	c.607A>T	c.(607-609)AAC>TAC	p.N203Y	BCL6B_uc010clt.1_Missense_Mutation_p.N203Y	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	203						nucleus	zinc ion binding			skin(1)	1						CATCGTGCTAAACTCTCAGGC	0.587			NA											6	114					0	0	0.001168	0	0
RARA	5914	broad.mit.edu	37	17	38510602	38510603	+	Missense_Mutation	DNP	TT	TT	AC			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:38510602_38510603TT>AC	uc002huk.1	+	7	1311_1312	c.856_857TT>AC	c.(856-858)TTC>ACC	p.F286T	RARA_uc002hul.3_Missense_Mutation_p.F286T|RARA_uc010wfe.1_Missense_Mutation_p.F189T|RARA_uc002hun.1_Missense_Mutation_p.F281T	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	286	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CACCATGACCTTCTCGGACGGG	0.639			NA	T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								10	47					0	0	0.004672	0	0
KRT31	3881	broad.mit.edu	37	17	39552825	39552825	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:39552825G>A	uc002hwn.2	-	3	488	c.435C>T	c.(433-435)TAC>TAT	p.Y145Y	KRT31_uc010cxn.2_Silent_p.Y145Y	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	145	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				GCTCGGTCTGGTACCTGCGCA	0.547			NA											4	44					0	0	0.000602	0	0
KRT16	3868	broad.mit.edu	37	17	39767654	39767654	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:39767654C>G	uc002hxg.3	-	3	853	c.714G>C	c.(712-714)GAG>GAC	p.E238D	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	238	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				CGATCTGCATCTCCAGGTCAG	0.632			NA											26	60					0	0	0.004656	0	0
C17orf47	284083	broad.mit.edu	37	17	56620680	56620680	+	Missense_Mutation	SNP	G	G	A	rs149389321		TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:56620680G>A	uc002iwq.1	-	1	1004	c.868C>T	c.(868-870)CGG>TGG	p.R290W	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	290										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTCTACCCGTGCAGAAACT	0.463			NA											4	108					0	0	0.009096	0	0
DTNA	1837	broad.mit.edu	37	18	32459575	32459575	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr18:32459575A>G	uc010dmn.1	+	19	1974	c.1973A>G	c.(1972-1974)GAT>GGT	p.D658G	DTNA_uc002kxw.2_Missense_Mutation_p.D601G|DTNA_uc010dmj.2_Missense_Mutation_p.D598G|DTNA_uc002kxz.2_Missense_Mutation_p.D605G|DTNA_uc002kxy.2_Missense_Mutation_p.D598G|DTNA_uc010xby.1_Missense_Mutation_p.D348G|DTNA_uc010xbz.1_Missense_Mutation_p.D367G|DTNA_uc010xca.1_Missense_Mutation_p.D310G|DTNA_uc002kye.2_Missense_Mutation_p.D306G	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	658					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						CAGTTTGAGGATCTTGTTCCC	0.443			NA											3	77					0	0	0.004672	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560673	44560673	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr18:44560673G>T	uc002lcr.1	-	1	1316	c.963C>A	c.(961-963)GAC>GAA	p.D321E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	321					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGTCCCGGCCGTCTAGACTGG	0.622			NA											11	134					9.70103e-10	1.32622e-09	0.008291	1	0
FZR1	51343	broad.mit.edu	37	19	3533341	3533341	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:3533341C>T	uc010dtk.2	+	11	1326	c.1292C>T	c.(1291-1293)CCC>CTC	p.P431L	FZR1_uc002lxt.2_Missense_Mutation_p.P431L|FZR1_uc002lxv.2_Missense_Mutation_p.P342L	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	431	WD 6.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAAGTACCCCTCCCTGACC	0.657			NA											4	53					0	0	0.009096	0	0
RFX2	5990	broad.mit.edu	37	19	6016244	6016244	+	Silent	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:6016244A>C	uc002meb.2	-	7	905	c.636T>G	c.(634-636)GGT>GGG	p.G212G	RFX2_uc002mec.2_Silent_p.G187G	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	212	RFX-type winged-helix.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						GGAGACTCACACCTTCCGCTG	0.512	Colon(38;171 817 19800 47433 48051)		NA											5	49					0	0	0.00308	0	0
ACSBG2	81616	broad.mit.edu	37	19	6185606	6185606	+	Silent	SNP	T	T	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:6185606T>G	uc002mef.1	+	11	1709	c.1482T>G	c.(1480-1482)TCT>TCG	p.S494S	ACSBG2_uc002mee.1_Silent_p.S307S|ACSBG2_uc002meg.1_Silent_p.S494S|ACSBG2_uc002meh.1_Silent_p.S494S|ACSBG2_uc002mei.1_Silent_p.S444S|ACSBG2_uc010xiz.1_Silent_p.S494S	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	494					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						GGCTACACTCTGGGGATCTGG	0.557			NA											10	89					0	0	0.006214	0	0
C19orf47	126526	broad.mit.edu	37	19	40842259	40842259	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:40842259G>A	uc002oni.3	-	3	187	c.186C>T	c.(184-186)GCC>GCT	p.A62A	C19orf47_uc002ong.2_5'UTR|C19orf47_uc002onh.2_5'UTR	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	62										ovary(1)|skin(1)	2			Lung(22;0.000636)			CATAATTGACGGCAGGTCCTG	0.567			NA											4	35					0	0	0.000602	0	0
NLRP7	199713	broad.mit.edu	37	19	55447693	55447693	+	Missense_Mutation	SNP	G	G	A	rs143673542		TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:55447693G>A	uc002qih.3	-	6	2312	c.2236C>T	c.(2236-2238)CGC>TGC	p.R746C	NLRP7_uc002qig.3_Missense_Mutation_p.R718C|NLRP7_uc002qii.3_Missense_Mutation_p.R746C|NLRP7_uc010esk.2_Missense_Mutation_p.R746C|NLRP7_uc010esl.2_Missense_Mutation_p.R774C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	746							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		ATCATCGTGCGTTCCCACTCG	0.572			NA											5	29					0	0	0.000602	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342549	40342549	+	Silent	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:40342549C>A	uc002rrx.2	-	10	2790	c.2766G>T	c.(2764-2766)GTG>GTT	p.V922V	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.V917V|SLC8A1_uc002rrz.2_Silent_p.V909V|SLC8A1_uc002rsa.2_Silent_p.V886V|SLC8A1_uc002rsd.3_Silent_p.V886V	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	922	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCAGCACCCCCACATTGATGA	0.562			NA											7	40					1.06961e-07	1.44398e-07	0.00308	1	0
KLRAQ1	129285	broad.mit.edu	37	2	48738497	48738497	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:48738497A>T	uc002rwm.2	+	21	2388	c.2203A>T	c.(2203-2205)AAG>TAG	p.K735*	KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.K689*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.K724*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.K693*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	735	Potential.									ovary(1)	1						GACAACTACCAAGAGGAGTTA	0.373			NA											21	184					0	0	0.008871	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711377	155711377	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:155711377C>A	uc002tyv.1	+	3	1253	c.1058C>A	c.(1057-1059)ACC>AAC	p.T353N	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	353	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	GAAGTCCCCACCCCACCTTAC	0.418			NA											6	102					8.12818e-05	9.86341e-05	0.001984	1	0
XIRP2	129446	broad.mit.edu	37	2	168103814	168103814	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:168103814G>A	uc002udx.2	+	8	5930	c.5912G>A	c.(5911-5913)AGG>AAG	p.R1971K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R1796K|XIRP2_uc010fpq.2_Missense_Mutation_p.R1749K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1796					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GCTGTCCAGAGGAACAAAAAT	0.458			NA											6	51					0	0	0.001168	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803464	185803464	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:185803464C>G	uc002uph.2	+	4	3935	c.3341C>G	c.(3340-3342)GCT>GGT	p.A1114G		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1114						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						gcagctgcagctgcagccgca	0.348			NA											4	62					0	0	0.009096	0	0
C20orf26	26074	broad.mit.edu	37	20	20278871	20278871	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:20278871G>C	uc002wru.2	+	25	3339	c.3263G>C	c.(3262-3264)CGA>CCA	p.R1088P	C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	1088										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		ACTTACTTCCGAATTCATATT	0.458			NA											4	53					0	0	0.000602	0	0
PLK1S1	55857	broad.mit.edu	37	20	21142930	21142930	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:21142930A>C	uc002wsb.2	+	5	957	c.824A>C	c.(823-825)AAT>ACT	p.N275T	PLK1S1_uc010zsh.1_Missense_Mutation_p.N172T|PLK1S1_uc010zsi.1_Missense_Mutation_p.N142T|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	polo-like kinase 1 substrate 1 isoform 1	275					spindle organization	centrosome	protein kinase binding				0						GCTGAACTCAATTCCCCGTTA	0.433			NA											8	112					0	0	0.00308	0	0
TMEM90B	79953	broad.mit.edu	37	20	24565545	24565545	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:24565545G>A	uc002wtw.1	+	3	1167	c.534G>A	c.(532-534)CCG>CCA	p.P178P		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	178	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						TGATGCCCCCGCGGGACCACC	0.547			NA											4	109					0	0	0.009096	0	0
TTLL9	164395	broad.mit.edu	37	20	30496492	30496492	+	Missense_Mutation	SNP	G	G	A	rs117415805	by1000genomes	TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:30496492G>A	uc010gdx.1	+	5	558	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_5'Flank	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	102	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTCACTTCCGGAACCACTAT	0.562			NA											3	27					0	0	0.004672	0	0
ADA	100	broad.mit.edu	37	20	43249764	43249764	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:43249764G>A	uc002xmj.2	-	10	998	c.870C>T	c.(868-870)TAC>TAT	p.Y290Y	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	290					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGTTGAGCGAGTAGTTAGCCT	0.383			NA							Adenosine_Deaminase_Deficiency				6	48					0	0	0.001168	0	0
SETD2	29072	broad.mit.edu	37	3	47142964	47142964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:47142964G>A	uc003cqs.2	-	8	5052	c.4999C>T	c.(4999-5001)CAG>TAG	p.Q1667*	SETD2_uc003cqv.2_Nonsense_Mutation_p.Q1734*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1667	SET.				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)		CTCTGGAACTGATAGTCAAAC	0.373			NA	N|F|S|Mis		clear cell renal carcinoma								15	229					0	0	0.006122	0	0
SETD2	29072	broad.mit.edu	37	3	47155459	47155459	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:47155459T>C	uc003cqs.2	-	5	4675	c.4622A>G	c.(4621-4623)AAT>AGT	p.N1541S	SETD2_uc003cqv.2_Missense_Mutation_p.N1530S	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1541	AWS.				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)		AAACCGTCTATTGGAACAATA	0.398			NA	N|F|S|Mis		clear cell renal carcinoma								34	81					0	0	0.004878	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326927	52326928	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:52326927_52326928GG>AT	uc003ddo.2	+	5	1453_1454	c.1357_1358GG>AT	c.(1357-1359)GGG>ATG	p.G453M	GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.2_Missense_Mutation_p.G117M	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	453					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TGGCACCGATGGGCAGGATGGG	0.649			NA											5	67					0	0	0.004672	0	0
EPHA6	285220	broad.mit.edu	37	3	96706498	96706498	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:96706498C>A	uc010how.1	+	3	818	c.775C>A	c.(775-777)CGC>AGC	p.R259S	EPHA6_uc003drp.1_Missense_Mutation_p.R259S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	164	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TTTGGGTGATCGCATCCTCAA	0.443			NA											5	287					0.00198382	0.00230379	0.001984	1	0
SLC9A10	285335	broad.mit.edu	37	3	111996575	111996575	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:111996575G>T	uc003dyu.2	-	5	673	c.451C>A	c.(451-453)CCC>ACC	p.P151T	SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.P151T	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	151	Helical; (Potential).				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						GTTAGCATGGGATCTGAACTC	0.318			NA											14	110					4.93089e-13	6.82739e-13	0.00245	1	0
KLHL6	89857	broad.mit.edu	37	3	183217479	183217479	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:183217479T>C	uc003flr.2	-	4	1104	c.1046A>G	c.(1045-1047)GAG>GGG	p.E349G	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	349	Kelch 1.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTTGGCCACCTCCAGGCGGCT	0.547			NA											4	122					0	0	0.000602	0	0
ANKRD17	26057	broad.mit.edu	37	4	74043241	74043241	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:74043241A>C	uc003hgp.2	-	2	520	c.403T>G	c.(403-405)TTC>GTC	p.F135V	ANKRD17_uc003hgo.2_Missense_Mutation_p.F22V|ANKRD17_uc003hgq.2_Missense_Mutation_p.F135V|ANKRD17_uc003hgr.2_Missense_Mutation_p.F135V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	135					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCAAAATGAAAGACTCCACC	0.264			NA											6	50					0	0	0.001168	0	0
CCDC158	339965	broad.mit.edu	37	4	77283379	77283379	+	Silent	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:77283379T>C	uc003hkb.3	-	12	2073	c.1920A>G	c.(1918-1920)GCA>GCG	p.A640A		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	640	Potential.									skin(3)|ovary(2)|pancreas(1)	6						GCTCAGAGCCTGCATTCACCA	0.408			NA											3	180					0	0	0.001168	0	0
WDFY3	23001	broad.mit.edu	37	4	85626628	85626628	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:85626628G>A	uc003hpd.2	-	54	8662	c.8254C>T	c.(8254-8256)CTG>TTG	p.L2752L	WDFY3_uc003hpe.1_Silent_p.L363L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2752	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGCTTAGCCAGGTTTCTAAAC	0.393			NA											4	137					0	0	0.000602	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160264217	160264217	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:160264217A>G	uc003iqg.3	+	15	2832	c.2522A>G	c.(2521-2523)CAA>CGA	p.Q841R		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	841	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAAGATCTCCAAGACCTGTTT	0.413			NA											5	54					0	0	0.001168	0	0
CDH10	1008	broad.mit.edu	37	5	24498627	24498627	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr5:24498627G>C	uc003jgr.1	-	9	1727	c.1395C>G	c.(1393-1395)AAC>AAG	p.N465K	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	465	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CTTTGGGATTGTCTGGAAAAG	0.368			NA								HNSCC(23;0.051)			7	82					0	0	0.00308	0	0
PDZD2	23037	broad.mit.edu	37	5	32093041	32093041	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr5:32093041G>A	uc003jhl.2	+	21	8144	c.7756G>A	c.(7756-7758)GAC>AAC	p.D2586N	PDZD2_uc003jhm.2_Missense_Mutation_p.D2586N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2586					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTCAGCGGGGGACCAGCAAAG	0.348			NA											16	33					0	0	0.00499	0	0
C5orf33	133686	broad.mit.edu	37	5	36211993	36211993	+	Silent	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr5:36211993T>A	uc003jkf.3	-	7	813	c.813A>T	c.(811-813)CCA>CCT	p.P271P	C5orf33_uc003jke.3_RNA|C5orf33_uc010iux.2_Silent_p.P108P|C5orf33_uc003jkg.3_Silent_p.P108P|C5orf33_uc011cov.1_Silent_p.P108P	NM_001085411	NP_001078880	Q4G0N4	NAKD1_HUMAN	hypothetical protein LOC133686 isoform 1	271							NAD+ kinase activity				0	all_lung(31;5.63e-05)		Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGCTCTCACTGGCAGAAGTT	0.378			NA											5	149					0	0	0.001984	0	0
NIPBL	25836	broad.mit.edu	37	5	37064848	37064848	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr5:37064848C>T	uc003jkl.3	+	47	8768	c.8269C>T	c.(8269-8271)CGC>TGC	p.R2757C	NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2757					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCGTGATGGCCGCAAACTGGT	0.453			NA											5	79					0	0	0.000602	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813103	25813103	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:25813103T>C	uc003nfh.3	-	8	969	c.853A>G	c.(853-855)ACT>GCT	p.T285A	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.T283A|SLC17A1_uc010jqc.1_Intron	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	285					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						AACATTGGAGTGTATAGTGTC	0.353			NA											6	62					0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	32011811	32011811	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:32011811T>C	uc003nzl.2	-	34	11555	c.11353A>G	c.(11353-11355)AAA>GAA	p.K3785E	TNXB_uc003nzg.1_Missense_Mutation_p.K216E|TNXB_uc003nzh.1_Missense_Mutation_p.K254E	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3832	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TAGGAGACTTTGAAGCTGTCC	0.617			NA											3	1					0	0	0.001984	0	0
C6orf222	389384	broad.mit.edu	37	6	36298275	36298275	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:36298275A>T	uc003oly.2	-	2	371	c.193T>A	c.(193-195)TCT>ACT	p.S65T		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	65										skin(2)|ovary(1)|breast(1)	4						GCCTCTGCAGATGGAGCTGGG	0.632			NA											5	83					0	0	0.001984	0	0
BCKDHB	594	broad.mit.edu	37	6	81053483	81053483	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:81053483A>C	uc003pjd.2	+	10	1208	c.1141A>C	c.(1141-1143)AAG>CAG	p.K381Q	BCKDHB_uc003pje.2_Missense_Mutation_p.K381Q	NM_000056	NP_000047	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta	381					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AGACAAATGGAAGTGTTATGA	0.393			NA											23	63					0	0	0.005443	0	0
CCNC	892	broad.mit.edu	37	6	99994324	99994324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:99994324G>A	uc003pqe.2	-	10	912	c.625C>T	c.(625-627)CAG>TAG	p.Q209*	uc003pqc.2_Intron|CCNC_uc003pqd.2_Nonsense_Mutation_p.Q124*|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Nonsense_Mutation_p.Q208*|CCNC_uc011eah.1_Nonsense_Mutation_p.Q124*	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	209					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TCTTTCTGCTGTACAACACAG	0.363	GBM(57;273 1020 40094 44454 49348)		NA											4	39					0	0	0.000602	0	0
CTGF	1490	broad.mit.edu	37	6	132270574	132270574	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:132270574T>G	uc003qcz.2	-	5	1086	c.880A>C	c.(880-882)ACC>CCC	p.T294P		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	294	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTGTGGGGGGTGCAGCATCGG	0.522	Esophageal Squamous(127;510 1660 12817 24400 38449)		NA											7	111					0	0	0.00333	0	0
C7orf28B	221960	broad.mit.edu	37	7	6840708	6840708	+	Splice_Site	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr7:6840708T>A	uc003sqx.1	-	14	1299	c.1266_splice	c.e14-1	p.R422_splice	C7orf28B_uc011jxd.1_Splice_Site_p.R279_splice	NM_198097	NP_932765	P86791	CCZ1_HUMAN	hypothetical protein LOC221960							lysosomal membrane					0		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)		TCATCCACTCTGCAAGACGAG	0.463			NA											6	32					0	0	0.001984	0	0
ZNF655	79027	broad.mit.edu	37	7	99170026	99170026	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr7:99170026C>G	uc003urh.2	+	3	688	c.295C>G	c.(295-297)CTT>GTT	p.L99V	ZNF655_uc010lga.2_Missense_Mutation_p.L134V|ZNF655_uc010lgc.2_Missense_Mutation_p.L134V|ZNF655_uc003urj.2_Missense_Mutation_p.L99V|ZNF655_uc003urk.2_5'UTR|ZNF655_uc010lgd.2_5'UTR	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	99					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATTAGAAAGACTTCAGGAAAT	0.388			NA											23	44					0	0	0.014323	0	0
LAMB4	22798	broad.mit.edu	37	7	107696313	107696313	+	Silent	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr7:107696313A>G	uc010ljo.1	-	25	3603	c.3519T>C	c.(3517-3519)CTT>CTC	p.L1173L	LAMB4_uc003vey.2_Silent_p.L1173L|LAMB4_uc010ljp.1_Silent_p.L142L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1173	Laminin EGF-like 13.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						AGTGACATTGAAGACAAGTAG	0.537			NA											20	35					0	0	0.003954	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	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				32	58					0	0	0.003271	0	0
PLEC	5339	broad.mit.edu	37	8	145049463	145049463	+	Silent	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr8:145049463A>G	uc003zaj.2	-	2	124	c.75T>C	c.(73-75)CCT>CCC	p.P25P	PLEC_uc003zah.2_5'Flank	NM_000445	NP_000436	Q15149	PLEC_HUMAN	plectin isoform 1c	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTGTGTCCCCAGGGCTGGGCG	0.677			NA									OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	29					0	0	0.001168	0	0
PIGO	84720	broad.mit.edu	37	9	35091859	35091859	+	Silent	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr9:35091859C>A	uc003zwd.2	-	7	2421	c.2025G>T	c.(2023-2025)GCG>GCT	p.A675A	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Silent_p.A238A	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	675	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACCAGCGCCGCCACACAAG	0.602			NA											4	40					0.000602214	0.000706947	0.000602	1	0
TRPM6	140803	broad.mit.edu	37	9	77354328	77354328	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr9:77354328T>G	uc004ajl.1	-	35	5763	c.5525A>C	c.(5524-5526)TAT>TCT	p.Y1842S	TRPM6_uc004ajk.1_Missense_Mutation_p.Y1837S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.Y793S|TRPM6_uc010mpd.1_Missense_Mutation_p.Y675S|TRPM6_uc010mpe.1_Missense_Mutation_p.Y389S|TRPM6_uc004ajj.1_Missense_Mutation_p.Y798S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1842	Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GTTGAAGGTATAGATCAATTT	0.368			NA											5	114					0	0	0.000602	0	0
PRPF4	9128	broad.mit.edu	37	9	116053798	116053798	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr9:116053798T>C	uc004bgx.2	+	14	1477	c.1427T>C	c.(1426-1428)ATC>ACC	p.I476T	PRPF4_uc004bgy.2_Missense_Mutation_p.I475T	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	476	WD 6.					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						ACAGCCAAGATCTGGACGCAC	0.502			NA											3	83					0	0	0.004672	0	0
ZNF711	7552	broad.mit.edu	37	X	84526181	84526181	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:84526181C>A	uc004eeo.2	+	9	1980	c.1633C>A	c.(1633-1635)CAA>AAA	p.Q545K	ZNF711_uc004eep.2_Missense_Mutation_p.Q545K|ZNF711_uc004eeq.2_Missense_Mutation_p.Q591K|ZNF711_uc011mqy.1_Missense_Mutation_p.Q144K	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	545	C2H2-type 5.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						GTGTGCAGATCAATCAAATCT	0.393			NA											10	38					6.40141e-05	7.94658e-05	0.010729	1	0
RPA4	29935	broad.mit.edu	37	X	96139775	96139775	+	Missense_Mutation	SNP	G	G	A	rs139569203	byFrequency	TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:96139775G>A	uc004efv.3	+	1	764	c.466G>A	c.(466-468)GTG>ATG	p.V156M	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	156					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						CGAGTTCACCGTGCATATTCT	0.443			NA						Other_identified_genes_with_known_or_suspected_DNA_repair_function					6	81					0	0	0.001168	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970221	101970221	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:101970221G>T	uc004ejk.2	+	4	1758	c.424G>T	c.(424-426)GCA>TCA	p.A142S	GPRASP2_uc004ejl.2_Missense_Mutation_p.A142S|GPRASP2_uc004ejm.2_Missense_Mutation_p.A142S|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	142						cytoplasm	protein binding			ovary(1)	1						AGTGTCACAGGCAGAAGGAGT	0.527			NA											12	170					3.07112e-06	3.94858e-06	0.010729	1	0
ZNF280C	55609	broad.mit.edu	37	X	129349244	129349244	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:129349244G>C	uc004evm.2	-	15	2056	c.1902C>G	c.(1900-1902)CAC>CAG	p.H634Q	ZNF280C_uc010nrf.1_Missense_Mutation_p.H585Q	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						ATATAGAAAAGTGGCTTGCAA	0.338			NA											3	163					0	0	0.004672	0	0
ZIC3	7547	broad.mit.edu	37	X	136648858	136648858	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:136648858T>A	uc004fak.2	+	1	513	c.8T>A	c.(7-9)ATG>AAG	p.M3K		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	3					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CCCATGACGATGCTCCTGGAC	0.682			NA											3	3					0	0	0.009096	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985257	140985257	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:140985257G>A	uc011mwp.1	+	7	1713	c.1713G>A	c.(1711-1713)GTG>GTA	p.V571V	MAGEC3_uc004fbs.2_Silent_p.V273V|MAGEC3_uc010nsj.2_Silent_p.V273V	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	571	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGGAAGTGTTGAGTGCAA	0.493			NA											8	109					0	0	0.004482	0	0
Unknown	0	broad.mit.edu	37	X	155252868	155252868	+	Silent	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:155252868T>A	uc004fnw.1	+	6	1571	c.912T>A	c.(910-912)CCT>CCA	p.P304P	uc004fnx.3_Silent_p.P90P	NM_182905	NP_878908			WAS protein family homolog 1												NA						TAGCCGAGCCTCTCAAGGCAG	0.632			NA											3	9					0	0	0.009096	0	0
PTPRC	5788	broad.mit.edu	37	1	198668699	198668699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:198668699delC	uc001gur.1	+	5	479	c.299delC	c.(298-300)TCAfs	p.S100fs	PTPRC_uc001gus.1_Frame_Shift_Del_p.S100fs|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Frame_Shift_Del_p.S36fs|PTPRC_uc009wzf.1_Frame_Shift_Del_p.S36fs|PTPRC_uc010ppg.1_Frame_Shift_Del_p.S36fs|PTPRC_uc001guu.1_Frame_Shift_Del_p.S143fs|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	100	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TTAGGTGTTTCATCAGTACAG	0.488			NA									OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	78	---	---	---	---	NA	NA	NA	NA	NA
SETD2	29072	broad.mit.edu	37	3	47161858	47161859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:47161858_47161859insC	uc003cqs.2	-	3	4320_4321	c.4267_4268insG	c.(4267-4269)GACfs	p.D1423fs	SETD2_uc003cqv.2_Frame_Shift_Ins_p.D1412fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1423					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)		TTTCTTTCTGTCCTGAAGCTCA	0.45			NA	N|F|S|Mis		clear cell renal carcinoma								8	67	---	---	---	---	NA	NA	NA	NA	NA
FGB	2244	broad.mit.edu	37	4	155487738	155487738	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:155487738delA	uc003ioa.3	+	3	443	c.404delA	c.(403-405)GAAfs	p.E135fs	FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Frame_Shift_Del_p.E132fs|FGB_uc010ipv.2_Frame_Shift_Del_p.E73fs|FGB_uc010ipw.2_Frame_Shift_Del_p.E132fs|FGB_uc003ioc.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	135					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AACAATGTGGAAGCTGTTTCC	0.428	NSCLC(106;1133 1613 21870 46110 52656)		NA											8	137	---	---	---	---	NA	NA	NA	NA	NA
