Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
FAM131C	348487	broad.mit.edu	37	1	16385163	16385163	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:16385163C>T	uc001axz.3	-	7	802	c.612G>A	c.(610-612)CAG>CAA	p.Q204Q	FAM131C_uc010obz.1_Intron	NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	hypothetical protein LOC348487	204											0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGTCATCCTGTGAGGGGC	0.652		NA											2	4					0	0	0	0
MATN1	4146	broad.mit.edu	37	1	31188840	31188840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:31188840C>T	uc001brz.2	-	5	1157	c.1123G>A	c.(1123-1125)GGG>AGG	p.G375R	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.G293R	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	375	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGGCCCCGGGCCTAGCC	0.552		NA											11	73					0	0	0	0
MRPS15	64960	broad.mit.edu	37	1	36929441	36929441	+	Silent	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:36929441G>C	uc001cas.2	-	2	305	c.141C>G	c.(139-141)CTC>CTG	p.L47L		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	47				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).	translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGCGGCCTGGAGGAGGAGAC	0.607		NA											6	36					0	0	0	0
MTF1	4520	broad.mit.edu	37	1	38305745	38305745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:38305745C>T	uc001cce.1	-	3	635	c.494G>A	c.(493-495)CGA>CAA	p.R165Q	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	165						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTACTCTCCTCGGTGAGTCTT	0.547		NA											11	50					0	0	0	0
AKNAD1	254268	broad.mit.edu	37	1	109391400	109391400	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:109391400G>C	uc001dwa.2	-	5	1488	c.1219C>G	c.(1219-1221)CCT>GCT	p.P407A	AKNAD1_uc010ovb.1_Missense_Mutation_p.P114A|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	407	Potential.									ovary(3)	3						AAATGGTAAGGAGAGTCCTGT	0.313		NA											11	77					0	0	0	0
POGZ	23126	broad.mit.edu	37	1	151377602	151377602	+	Silent	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:151377602G>C	uc001eyd.1	-	19	4215	c.3909C>G	c.(3907-3909)GTC>GTG	p.V1303V	POGZ_uc001eye.1_Silent_p.V1250V|POGZ_uc010pdb.1_Silent_p.V1294V|POGZ_uc001eyf.1_Silent_p.V1259V|POGZ_uc010pdc.1_Silent_p.V1241V|POGZ_uc009wmv.1_Silent_p.V1208V|POGZ_uc010pdd.1_Silent_p.V794V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1303	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACCCAGCCAGACAAGCACCA	0.517		NA											27	85					0	0	0	0
NES	10763	broad.mit.edu	37	1	156642028	156642028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:156642028G>A	uc001fpq.2	-	4	2085	c.1952C>T	c.(1951-1953)ACG>ATG	p.T651M		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	651	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGATTTTCCGTTCCTGGAAA	0.398		NA											10	38					0	0	0	0
FCRL3	115352	broad.mit.edu	37	1	157665837	157665837	+	Silent	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:157665837G>T	uc001frb.2	-	7	1417	c.1125C>A	c.(1123-1125)ACC>ACA	p.T375T	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.T375T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.T101T|FCRL3_uc001frc.1_Silent_p.T375T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	375	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TACTTCTCACGGTGACTCGAA	0.522		NA											6	30					2.01e-06	2.15e-06	1	0
FMO4	2329	broad.mit.edu	37	1	171303659	171303659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:171303659G>A	uc001gho.2	+	8	1154	c.937G>A	c.(937-939)GAA>AAA	p.E313K		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	313					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTCTTTGAAGATGGGAC	0.378		NA											11	50					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197111547	197111547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:197111547G>A	uc001gtu.2	-	3	2092	c.1835C>T	c.(1834-1836)TCA>TTA	p.S612L	ASPM_uc001gtv.2_Missense_Mutation_p.S612L|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	612					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CTTAACAGCTGATGTTTTAGG	0.368		NA											33	127					0	0	0	0
PLXNA2	5362	broad.mit.edu	37	1	208202360	208202360	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:208202360C>A	uc001hgz.2	-	30	6011	c.5253G>T	c.(5251-5253)GTG>GTT	p.V1751V	PLXNA2_uc001hgy.2_Silent_p.V21V	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1751	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTAATCACGTTCACCC	0.562		NA											14	34					2e-07	2.17e-07	1	0
RYR2	6262	broad.mit.edu	37	1	237780641	237780641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:237780641C>T	uc001hyl.1	+	38	5891	c.5771C>T	c.(5770-5772)GCC>GTC	p.A1924V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1924	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGATAGAAGCCATTGTAGCC	0.433		NA											6	22					0	0	0	0
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:248112339C>T	uc001idt.1	+	1	180	c.180C>T	c.(178-180)TTC>TTT	p.F60F	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413		NA											7	329					0	0	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316132	30316132	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:30316132G>C	uc001iux.2	-	2	3004	c.2945C>G	c.(2944-2946)TCA>TGA	p.S982*	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.S844*|KIAA1462_uc009xle.1_Nonsense_Mutation_p.S982*	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	982										ovary(4)	4						TGCGTCACTTGATCTTGAAGA	0.527		NA											29	91					0	0	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316271	30316271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:30316271G>A	uc001iux.2	-	2	2865	c.2806C>T	c.(2806-2808)CGC>TGC	p.R936C	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R798C|KIAA1462_uc009xle.1_Missense_Mutation_p.R936C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	936										ovary(4)	4						TCTTCCACGCGAAAGCGGCCC	0.607		NA											12	44					0	0	0	0
OGDHL	55753	broad.mit.edu	37	10	50952744	50952744	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:50952744C>T	uc001jie.2	-	13	1826	c.1684G>A	c.(1684-1686)GAT>AAT	p.D562N	OGDHL_uc009xog.2_Missense_Mutation_p.D589N|OGDHL_uc010qgt.1_Missense_Mutation_p.D505N|OGDHL_uc010qgu.1_Missense_Mutation_p.D353N|OGDHL_uc009xoh.2_Missense_Mutation_p.D353N	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	562					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						ATCTTTTTATCCTTGGACCTG	0.537		NA											15	44					0	0	0	0
ANK3	288	broad.mit.edu	37	10	61834987	61834987	+	Silent	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:61834987G>T	uc001jky.2	-	37	5844	c.5652C>A	c.(5650-5652)CCC>CCA	p.P1884P	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1884	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TAAGGGCAGAGGGTGCAAGGA	0.443		NA											7	56					1.13e-05	1.19e-05	1	0
PAPSS2	9060	broad.mit.edu	37	10	89474820	89474820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:89474820G>A	uc001kex.2	+	6	981	c.718G>A	c.(718-720)GAG>AAG	p.E240K	PAPSS2_uc001kew.2_Missense_Mutation_p.E240K|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	240	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGTCCGAGCTGAGGCTGAAAC	0.363		NA											15	26					0	0	0	0
PSD	5662	broad.mit.edu	37	10	104164418	104164418	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:104164418G>A	uc001kvg.1	-	15	3149	c.2622C>T	c.(2620-2622)CCC>CCT	p.P874P	PSD_uc001kve.1_Silent_p.P82P|PSD_uc001kvf.1_Silent_p.P243P|PSD_uc001kvh.1_Silent_p.P495P|PSD_uc009xxd.1_Silent_p.P874P	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	874					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTGGGAAGGGGGGCGCAGAGA	0.617		NA											35	99					0	0	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193783	193783	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:193783G>A	uc001loa.1	+	2	147	c.127G>A	c.(127-129)GAG>AAG	p.E43K	ODF3_uc001lob.2_5'Flank|ODF3_uc010qvk.1_5'Flank	NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1 precursor	43						extracellular region	binding			skin(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGGACCCCAGAGGAGCTCTA	0.532		NA											5	50					0	0	0	0
KCNA4	3739	broad.mit.edu	37	11	30033675	30033675	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:30033675C>G	uc001msk.2	-	2	1703	c.551G>C	c.(550-552)GGC>GCC	p.G184A		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	184						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AAAGCGTAGGCCTGACACATT	0.512		NA											10	47					0	0	0	0
C11orf68	83638	broad.mit.edu	37	11	65685181	65685181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:65685181G>A	uc001ogi.2	-	2	660	c.631C>T	c.(631-633)CGC>TGC	p.R211C	C11orf68_uc009yqv.2_Missense_Mutation_p.R210C|DRAP1_uc001ogj.1_5'Flank	NM_001135635	NP_001129107	Q9H3H3	CK068_HUMAN	basophilic leukemia expressed protein BLES03	169											0				READ - Rectum adenocarcinoma(159;0.166)		ATGACCTGGCGCCCACCCTCC	0.637		NA											8	30					0	0	0	0
GRIA4	2893	broad.mit.edu	37	11	105797542	105797542	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:105797542C>A	uc001pix.2	+	13	2369	c.1923C>A	c.(1921-1923)AAC>AAA	p.N641K	GRIA4_uc001piw.2_Missense_Mutation_p.N641K	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	641	Helical; (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATACTGCTAACCTCGCTGCTT	0.393		NA											8	42					1.59e-06	1.71e-06	1	0
RNF214	257160	broad.mit.edu	37	11	117152363	117152363	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:117152363G>A	uc001pqt.2	+	10	1329	c.1284G>A	c.(1282-1284)CTG>CTA	p.L428L	RNF214_uc001pqu.2_Silent_p.L428L|RNF214_uc010rxf.1_Silent_p.L273L	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	428							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAGCCAAGCTGAGCAGCCTTC	0.453		NA											25	125					0	0	0	0
VPS11	55823	broad.mit.edu	37	11	118948900	118948900	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:118948900C>A	uc010ryx.1	+	12	1821	c.1779C>A	c.(1777-1779)TTC>TTA	p.F593L	VPS11_uc010ryy.1_Missense_Mutation_p.F439L	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	593					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTGAGGAGTTCATCCCCATCT	0.532		NA											32	134					4.32e-10	4.83e-10	1	0
TECTA	7007	broad.mit.edu	37	11	121000377	121000377	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:121000377T>C	uc010rzo.1	+	9	2398	c.2398T>C	c.(2398-2400)TTC>CTC	p.F800L		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	800	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATTGCCTTTTTTCCATCCTTC	0.438		NA											25	69					0	0	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715902	13715902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:13715902G>A	uc001rbt.2	-	13	4449	c.4270C>T	c.(4270-4272)CTT>TTT	p.L1424F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1424	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGTGACAAGGGCCCGGAAG	0.622		NA											13	27					0	0	0	0
DDX11	1663	broad.mit.edu	37	12	31242845	31242845	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:31242845G>A	uc001rjt.1	+	9	1157	c.906G>A	c.(904-906)GAG>GAA	p.E302E	DDX11_uc010sjw.1_3'UTR|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.E302E|DDX11_uc001rjs.1_Silent_p.E302E|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.E302E|DDX11_uc001rjw.1_Silent_p.E276E|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	302	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGAGGAGGAGAAGCCAAAGA	0.587		NA								Multiple Myeloma(12;0.14)			6	8					0	0	0	0
FMNL3	91010	broad.mit.edu	37	12	50043581	50043581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:50043581C>G	uc001ruv.1	-	18	2362	c.2128G>C	c.(2128-2130)GAG>CAG	p.E710Q	FMNL3_uc001ruw.1_Missense_Mutation_p.E659Q|FMNL3_uc001rut.1_Missense_Mutation_p.E276Q|FMNL3_uc001ruu.1_Missense_Mutation_p.E560Q	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	710	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						AAGCGGTCCTCAGCTGCCAAC	0.602		NA											18	63					0	0	0	0
PLXNC1	10154	broad.mit.edu	37	12	94641745	94641745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:94641745C>T	uc001tdc.2	+	13	2704	c.2455C>T	c.(2455-2457)CGC>TGC	p.R819C		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	819	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TTCAAAAGTGCGCACGAATGT	0.463		NA											17	62					0	0	0	0
C12orf42	374470	broad.mit.edu	37	12	103795437	103795437	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:103795437A>C	uc001tjt.2	-	3	183	c.95T>G	c.(94-96)ATT>AGT	p.I32S	C12orf42_uc001tjs.2_RNA|C12orf42_uc009zuf.1_Missense_Mutation_p.I32S|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	32										ovary(1)|central_nervous_system(1)	2						CACAATGGGAATATAGCAAGG	0.443		NA											7	18					0	0	0	0
MYO1H	283446	broad.mit.edu	37	12	109845600	109845600	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:109845600T>C	uc010sxn.1	+	9	989	c.989T>C	c.(988-990)GTG>GCG	p.V330A		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						TCTTTTCAGGTGATCTGCCCG	0.373		NA											8	31					0	0	0	0
GCN1L1	10985	broad.mit.edu	37	12	120588998	120588998	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:120588998C>A	uc001txo.2	-	34	4273	c.4260G>T	c.(4258-4260)GCG>GCT	p.A1420A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1420					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGTCAGTGCCGCCATCATCT	0.612		NA											11	62					0.000978159	0.00100505	1	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465689	24465689	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:24465689C>A	uc010tcw.1	-	3	741	c.741G>T	c.(739-741)GGG>GGT	p.G247G	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Intron|PCOTH_uc009zzx.2_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Silent_p.G247G	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	247	C1q.					collagen					0						AGTAATAGACCCCAGCAATGT	0.408		NA											17	105					2.23e-06	2.39e-06	1	0
RXFP2	122042	broad.mit.edu	37	13	32367045	32367045	+	Missense_Mutation	SNP	C	C	T	rs142857153	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:32367045C>T	uc001utt.2	+	16	1677	c.1606C>T	c.(1606-1608)CGG>TGG	p.R536W	RXFP2_uc010aba.2_Missense_Mutation_p.R495W	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	536	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACCTGGAAAACGGCAGACCTC	0.428		NA											7	31					0	0	0	0
SLC15A1	6564	broad.mit.edu	37	13	99376168	99376168	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:99376168G>A	uc001vno.2	-	5	440	c.363C>T	c.(361-363)CAC>CAT	p.H121H	SLC15A1_uc001vnp.1_Silent_p.H89H	NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	121	Helical; (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CAACTCACACGTGCACAGGAA	0.512		NA											7	35					0	0	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21788328	21788328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:21788328C>G	uc001wag.2	+	11	1459	c.1459C>G	c.(1459-1461)CAG>GAG	p.Q487E	RPGRIP1_uc001wah.2_Missense_Mutation_p.Q129E|RPGRIP1_uc001wai.2_Missense_Mutation_p.Q129E|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.2_5'Flank|RPGRIP1_uc010aim.2_5'Flank|RPGRIP1_uc001wal.2_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	487	Potential.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGAGAACACTCAGATCGAGGT	0.448		NA											3	20					0	0	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847230	94847230	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:94847230A>C	uc001ycx.3	-	3	1156	c.895T>G	c.(895-897)TTC>GTC	p.F299V	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.F299V|SERPINA1_uc010aux.2_Missense_Mutation_p.F299V|SERPINA1_uc001ycy.3_Missense_Mutation_p.F299V|SERPINA1_uc010auy.2_Missense_Mutation_p.F299V|SERPINA1_uc001ycz.3_Missense_Mutation_p.F299V|SERPINA1_uc010auz.2_Missense_Mutation_p.F299V|SERPINA1_uc010ava.2_Missense_Mutation_p.F299V|SERPINA1_uc001ydb.3_Missense_Mutation_p.F299V|SERPINA1_uc010avb.2_Missense_Mutation_p.F299V|SERPINA1_uc001ydc.3_Missense_Mutation_p.F299V|SERPINA1_uc001yda.1_Missense_Mutation_p.F299V	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	299					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TTTTCCAGGAACTTGGTGATG	0.517		NA							Alpha-1-Antitrypsin_Deficiency				10	70					0	0	0	0
CLMN	79789	broad.mit.edu	37	14	95658065	95658065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:95658065C>T	uc001yef.2	-	13	2961	c.2845G>A	c.(2845-2847)GCC>ACC	p.A949T		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	949						integral to membrane	actin binding				0				Epithelial(152;0.193)		GAGCTGTTGGCCTTCCTACAG	0.567		NA											9	39					0	0	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22861874	22861874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:22861874G>A	uc001yur.3	+	14	2024	c.1894G>A	c.(1894-1896)GCT>ACT	p.A632T	TUBGCP5_uc001yuq.2_Missense_Mutation_p.A632T|TUBGCP5_uc010axz.1_Missense_Mutation_p.A219T	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	632					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCAGTCCATTGCTGAAAGCCA	0.458		NA											11	70					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	34115205	34115205	+	Silent	SNP	A	A	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:34115205A>G	uc001zhi.2	+	81	11074	c.11004A>G	c.(11002-11004)CTA>CTG	p.L3668L	RYR3_uc010bar.2_Silent_p.L3663L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3668					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAAAATGCTAGATTACCTAA	0.433		NA											5	34					0	0	0	0
CEP152	22995	broad.mit.edu	37	15	49052415	49052415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:49052415G>A	uc001zwy.2	-	19	2645	c.2611C>T	c.(2611-2613)CCA>TCA	p.P871S	CEP152_uc001zwz.2_Missense_Mutation_p.P871S|CEP152_uc001zxa.1_Missense_Mutation_p.P778S	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	871					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCCAGCTCTGGTAGTTCTCCC	0.428		NA											17	66					0	0	0	0
RNF111	54778	broad.mit.edu	37	15	59350644	59350644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:59350644C>T	uc002afv.2	+	5	1540	c.1261C>T	c.(1261-1263)CAG>TAG	p.Q421*	RNF111_uc002afs.2_Nonsense_Mutation_p.Q421*|RNF111_uc002aft.2_Nonsense_Mutation_p.Q421*|RNF111_uc002afu.2_Nonsense_Mutation_p.Q421*|RNF111_uc002afw.2_Nonsense_Mutation_p.Q421*	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	421	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		TACCTCTGAGCAGGCCTCTGA	0.443		NA											19	207					0	0	0	0
IGDCC4	57722	broad.mit.edu	37	15	65693167	65693167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:65693167G>A	uc002aou.1	-	5	1028	c.818C>T	c.(817-819)CCT>CTT	p.P273L		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	273	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GGACACAAAAGGGGTGGGGTC	0.612		NA									OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	71					0	0	0	0
CHD2	1106	broad.mit.edu	37	15	93547934	93547934	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:93547934A>T	uc002bsp.2	+	34	4941	c.4366A>T	c.(4366-4368)ATT>TTT	p.I1456F	CHD2_uc002bso.1_Missense_Mutation_p.I1456F	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1456					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACCTGTCCCCATTGGAGAGGA	0.478		NA											11	71					0	0	0	0
RGMA	56963	broad.mit.edu	37	15	93595681	93595681	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:93595681C>A	uc002bss.1	-	3	459	c.187G>T	c.(187-189)GGC>TGC	p.G63C	RGMA_uc002bsq.1_Missense_Mutation_p.G47C|RGMA_uc010boi.1_5'UTR|RGMA_uc002bsr.1_5'UTR|RGMA_uc010urc.1_Missense_Mutation_p.G71C	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	63					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCGTGGCTGCCCGACGTGGCG	0.672		NA											3	15					0.00909568	0.00921901	1	0
TNRC6A	27327	broad.mit.edu	37	16	24829935	24829935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:24829935C>T	uc002dmm.2	+	21	5108	c.4994C>T	c.(4993-4995)ACC>ATC	p.T1665I	TNRC6A_uc010bxs.2_Missense_Mutation_p.T1412I|TNRC6A_uc002dmn.2_Missense_Mutation_p.T1363I|TNRC6A_uc002dmo.2_Missense_Mutation_p.T1304I	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1665					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TCCTTGAACACCACGCTGCCT	0.532		NA											3	31					0	0	0	0
ATP2A1	487	broad.mit.edu	37	16	28906272	28906272	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:28906272T>C	uc002dro.1	+	12	1601	c.1417T>C	c.(1417-1419)TCG>CCG	p.S473P	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.S473P|ATP2A1_uc002drp.1_Missense_Mutation_p.S348P	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	473	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CGCCTGCAACTCGGTGAGCCT	0.602		NA											4	21					0	0	0	0
CCDC135	84229	broad.mit.edu	37	16	57762377	57762377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:57762377C>A	uc002emi.2	+	16	2361	c.2272C>A	c.(2272-2274)CTC>ATC	p.L758I	CCDC135_uc002emj.2_Missense_Mutation_p.L758I|CCDC135_uc002emk.2_Missense_Mutation_p.L693I	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	758						cytoplasm				central_nervous_system(1)	1						CCTGGCCCAGCTCCCGCCAGG	0.602		NA											13	72					2.27e-07	2.46e-07	1	0
SDR42E1	93517	broad.mit.edu	37	16	82033306	82033306	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:82033306G>T	uc002fgu.2	-	3	720	c.592C>A	c.(592-594)CCC>ACC	p.P198T		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E,	198					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding				0						ACTATCCTGGGAAGGTGTCTT	0.562		NA											19	100					1.5e-11	1.69e-11	1	0
P2RX1	5023	broad.mit.edu	37	17	3802281	3802281	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:3802281G>C	uc002fww.2	-	9	1354	c.913C>G	c.(913-915)CGT>GGT	p.R305G		NM_002558	NP_002549	P51575	P2RX1_HUMAN	purinergic receptor P2X1	305	Extracellular (Potential).				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			ovary(1)|skin(1)	2				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		AAGAGGTGACGGTAGTTGGTC	0.562		NA											20	80					0	0	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907216	7907216	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:7907216G>A	uc002gjt.2	+	3	842	c.768G>A	c.(766-768)CAG>CAA	p.Q256Q		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	256	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCGAGGAGCAGCGCTACCTCC	0.692		NA											11	46					0	0	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094308	21094308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:21094308C>G	uc002gyo.2	+	7	847	c.820C>G	c.(820-822)CAG>GAG	p.Q274E		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	274	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1						GGAGGTGGCCCAGGATGTTCT	0.498		NA											17	90					0	0	0	0
NF1	4763	broad.mit.edu	37	17	29683523	29683523	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:29683523C>T	uc002hgg.2	+	52	7994	c.7661C>T	c.(7660-7662)CCT>CTT	p.P2554L	NF1_uc002hgh.2_Missense_Mutation_p.P2533L|NF1_uc010cso.2_Missense_Mutation_p.P742L|NF1_uc010wbt.1_Missense_Mutation_p.P32L|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2554					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAGGCTCCTAAAAGGCAA	0.358		NA	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			9	49					0	0	0	0
ACACA	31	broad.mit.edu	37	17	35631097	35631097	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:35631097T>A	uc002hnm.2	-	9	1075	c.884A>T	c.(883-885)GAT>GTT	p.D295V	ACACA_uc002hnk.2_Missense_Mutation_p.D217V|ACACA_uc002hnl.2_Missense_Mutation_p.D237V|ACACA_uc002hnn.2_Missense_Mutation_p.D295V|ACACA_uc002hno.2_Missense_Mutation_p.D332V|ACACA_uc010cuz.2_Missense_Mutation_p.D295V|ACACA_uc002hnq.2_Missense_Mutation_p.D217V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	295	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAGCCCATCATCCACATCTTT	0.433		NA											15	58					0	0	0	0
AOC2	314	broad.mit.edu	37	17	40997732	40997732	+	Silent	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:40997732A>T	uc002ibu.2	+	1	1124	c.1089A>T	c.(1087-1089)GTA>GTT	p.V363V	AOC2_uc002ibt.2_Silent_p.V363V	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	363					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGAGTGTGTATCTATCTATG	0.532		NA											28	105					0	0	0	0
TBX2	6909	broad.mit.edu	37	17	59477583	59477583	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:59477583T>A	uc010wox.1	+	1	327	c.46T>A	c.(46-48)TTC>ATC	p.F16I	TBX2_uc002ize.2_Missense_Mutation_p.F6I|TBX2_uc002izg.2_5'UTR	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	16					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						TTACCACCCGTTCCACGCGCC	0.567		NA											4	18					0	0	0	0
MRC2	9902	broad.mit.edu	37	17	60744755	60744755	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:60744755G>C	uc002jad.2	+	6	1380	c.978G>C	c.(976-978)CAG>CAC	p.Q326H	MRC2_uc002jac.2_Missense_Mutation_p.Q326H	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	326	Extracellular (Potential).|C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCACAGACCAGCCGGACAACC	0.667		NA											5	30					0	0	0	0
MYOM1	8736	broad.mit.edu	37	18	3102583	3102583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:3102583G>A	uc002klp.2	-	23	3798	c.3464C>T	c.(3463-3465)TCA>TTA	p.S1155L	MYOM1_uc002klq.2_Missense_Mutation_p.S1059L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1155	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GAAGTTCAATGAAATGACTCC	0.428		NA											22	81					0	0	0	0
SPIRE1	56907	broad.mit.edu	37	18	12454464	12454464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:12454464C>T	uc002kre.2	-	13	1704	c.1657G>A	c.(1657-1659)GTG>ATG	p.V553M	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.V419M|SPIRE1_uc010wzx.1_Missense_Mutation_p.V342M|SPIRE1_uc010wzy.1_Missense_Mutation_p.V539M	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	553						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						AGGCATTCCACTGGGTAGCAG	0.453		NA											4	103					0	0	0	0
DSG2	1829	broad.mit.edu	37	18	29104786	29104786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:29104786G>T	uc002kwu.3	+	8	1137	c.949G>T	c.(949-951)GAA>TAA	p.E317*		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	317	Extracellular (Potential).|Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATCAGGAAATGAAGGAGGTTA	0.378		NA											12	25					1.09e-07	1.19e-07	1	0
MIDN	90007	broad.mit.edu	37	19	1257108	1257108	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:1257108C>T	uc002lrp.2	+	8	1759	c.1244C>T	c.(1243-1245)CCG>CTG	p.P415L		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	415						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGGGGTCCGTACCACTGG	0.706		NA											4	28					0	0	0	0
KHSRP	8570	broad.mit.edu	37	19	6416646	6416646	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:6416646T>A	uc002mer.3	-	14	1453	c.1343A>T	c.(1342-1344)AAA>ATA	p.K448I		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	448	Gly-rich.|KH 4.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1						GTTTATGGCTTTCACATTCTC	0.602		NA											4	27					0	0	0	0
KHSRP	8570	broad.mit.edu	37	19	6416663	6416663	+	Splice_Site	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:6416663T>A	uc002mer.3	-	14	1438	c.1328_splice	c.e14-1	p.G443_splice		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1						TCTCGCCACCTGCAGAAACGC	0.602		NA											7	30					0	0	0	0
AKAP8	10270	broad.mit.edu	37	19	15484099	15484099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:15484099C>T	uc002nav.2	-	5	485	c.424G>A	c.(424-426)GAG>AAG	p.E142K	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_5'UTR	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	142					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GGGTTGTGCTCCGGCAGGCAG	0.627		NA											4	23					0	0	0	0
ZNF98	148198	broad.mit.edu	37	19	22575526	22575526	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:22575526T>C	uc002nqt.2	-	4	633	c.511A>G	c.(511-513)AGA>GGA	p.R171G		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATCTTATGTCTGTTTGAATTT	0.299		NA											4	17					0	0	0	0
NLRP9	338321	broad.mit.edu	37	19	56235505	56235505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:56235505G>A	uc002qly.2	-	4	2028	c.2000C>T	c.(1999-2001)ACT>ATT	p.T667I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	667						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTACACAGAAGTAAATCTGCA	0.423		NA											4	25					0	0	0	0
NLRP9	338321	broad.mit.edu	37	19	56244753	56244753	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:56244753C>T	uc002qly.2	-	2	472	c.444G>A	c.(442-444)GTG>GTA	p.V148V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	148	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTCCAGGACCACAGTGTGTC	0.433		NA											7	51					0	0	0	0
USP29	57663	broad.mit.edu	37	19	57642147	57642147	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:57642147G>C	uc002qny.2	+	4	2460	c.2104G>C	c.(2104-2106)GAG>CAG	p.E702Q		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	702					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACATTCGTAGAGTTCAATTT	0.443		NA											15	40					0	0	0	0
CRIM1	51232	broad.mit.edu	37	2	36691747	36691747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:36691747C>T	uc002rpd.2	+	5	979	c.940C>T	c.(940-942)CGT>TGT	p.R314C		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	314	Extracellular (Potential).|Cell attachment site (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CATAGTCTCTCGTGGCGATGG	0.498		NA											30	109					0	0	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530211	80530211	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:80530211A>T	uc002sok.1	-	2	1004	c.734T>A	c.(733-735)GTG>GAG	p.V245E	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	245	LRR 7.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CACAATGGCCACCTTGTTCCT	0.587		NA								HNSCC(69;0.2)			18	58					0	0	0	0
CNGA3	1261	broad.mit.edu	37	2	99013277	99013277	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:99013277G>A	uc002syt.2	+	8	2061	c.1644G>A	c.(1642-1644)GGG>GGA	p.G548G	CNGA3_uc002syu.2_Silent_p.G530G|CNGA3_uc010fij.2_Silent_p.G552G	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	548	cGMP.		G -> R (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCTACTTCGGGGAGATCAGCA	0.572		NA											28	87					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166856255	166856255	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:166856255T>C	uc010zcz.1	-	22	4301	c.4283A>G	c.(4282-4284)TAT>TGT	p.Y1428C	SCN1A_uc002udo.3_Missense_Mutation_p.Y1308C|SCN1A_uc010fpk.2_Missense_Mutation_p.Y1280C	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1439	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACTGCTGCATACATTATATC	0.303		NA											19	58					0	0	0	0
MAP2	4133	broad.mit.edu	37	2	210559592	210559592	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:210559592A>C	uc002vde.1	+	7	2946	c.2698A>C	c.(2698-2700)ACT>CCT	p.T900P	MAP2_uc002vdc.1_Missense_Mutation_p.T900P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T896P	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	900					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTACGAAGGCACTGATGATAA	0.453		NA											11	53					0	0	0	0
CPS1	1373	broad.mit.edu	37	2	211464248	211464248	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:211464248A>T	uc002vee.3	+	14	1644	c.1512A>T	c.(1510-1512)TTA>TTT	p.L504F	CPS1_uc010fur.2_Missense_Mutation_p.L510F|CPS1_uc010fus.2_Missense_Mutation_p.L53F	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	504					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGATGGGTTAATTCTGGGCA	0.453		NA											18	54					0	0	0	0
ALPP	250	broad.mit.edu	37	2	233243766	233243766	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:233243766C>T	uc002vsq.2	+	2	327	c.162C>T	c.(160-162)GCC>GCT	p.A54A	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	54						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACAGACAGCCGCCAAGAACC	0.667		NA											22	85					0	0	0	0
AGAP1	116987	broad.mit.edu	37	2	237032610	237032611	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:237032610_237032611GG>TA	uc002vvs.2	+	18	3013_3014	c.2418_2419GG>TA	c.(2416-2421)CTGGCC>CTTACC	p.A807T	AGAP1_uc002vvt.2_Missense_Mutation_p.A754T	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	807	ANK 2.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						ACACAGCTCTGGCCTACGCCCG	0.644		NA											13	40					0	0	0	0
OR6B3	150681	broad.mit.edu	37	2	240984616	240984616	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:240984616G>A	uc010zoe.1	-	1	874	c.874C>T	c.(874-876)CTG>TTG	p.L292L	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TTATTCCTCAGGCAGTATATC	0.493		NA											25	121					0	0	0	0
RBCK1	10616	broad.mit.edu	37	20	402811	402811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:402811G>T	uc002wdp.3	+	8	1651	c.958G>T	c.(958-960)GAG>TAG	p.E320*	RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Nonsense_Mutation_p.E278*|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Nonsense_Mutation_p.E150*	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	320	RING-type.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAGGAGGCGGAGGTCTCCTG	0.612		NA											20	72					3.52e-12	3.98e-12	1	0
PLCG1	5335	broad.mit.edu	37	20	39793623	39793623	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:39793623G>A	uc002xjp.1	+	13	1389	c.1268G>A	c.(1267-1269)AGA>AAA	p.R423K	PLCG1_uc002xjo.1_Missense_Mutation_p.R423K|PLCG1_uc010zwe.1_Missense_Mutation_p.R49K|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	423	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GCCCAGCAGAGAAACATGGCC	0.567		NA											8	33					0	0	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978195	61978195	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:61978195G>A	uc002yes.2	-	6	1957	c.1779C>T	c.(1777-1779)TAC>TAT	p.Y593Y	CHRNA4_uc002yet.1_Silent_p.Y417Y|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.Y522Y|CHRNA4_uc002yev.1_Silent_p.Y417Y|CHRNA4_uc010gkf.1_Silent_p.Y417Y	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	593	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCATGGCCACGTACTTCCAGT	0.682		NA											3	44					0	0	0	0
SFRS15	57466	broad.mit.edu	37	21	33063182	33063182	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr21:33063182C>T	uc002ypd.2	-	15	2239	c.1813G>A	c.(1813-1815)GAC>AAC	p.D605N	SFRS15_uc002ype.2_Missense_Mutation_p.D605N|SFRS15_uc010glu.2_Missense_Mutation_p.D590N|SFRS15_uc002ypf.1_Missense_Mutation_p.D279N	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	605				WDK -> CDN (in Ref. 1; AAD09327).		nucleus	nucleotide binding|RNA binding				0						TTGACTTTGTCCCATGGAATA	0.393		NA											21	76					0	0	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887573	30887573	+	Silent	SNP	G	G	A	rs141872549		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:30887573G>A	uc003aid.2	-	11	1168	c.1068C>T	c.(1066-1068)CTC>CTT	p.L356L	SEC14L4_uc011akz.1_Silent_p.L356L|SEC14L4_uc003aie.2_Silent_p.L341L|SEC14L4_uc003aif.2_Silent_p.L302L	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	356	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	CGCCAGCCTGGAGGCAGGTGA	0.617		NA											8	76					0	0	0	0
SREBF2	6721	broad.mit.edu	37	22	42266924	42266924	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42266924A>T	uc003bbi.2	+	4	921	c.752A>T	c.(751-753)GAT>GTT	p.D251V	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	251	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						ATCAAGACAGATTCCCTTGTT	0.502		NA											23	95					0	0	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42322147	42322147	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42322147G>C	uc003bbl.2	-	2	369	c.325C>G	c.(325-327)CGC>GGC	p.R109G	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.R110G	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	BAFF receptor	109	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GACGCGCCGCGAAGCCGCCGC	0.602		NA											5	23					0	0	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42322238	42322238	+	Silent	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42322238G>C	uc003bbl.2	-	2	278	c.234C>G	c.(232-234)CTC>CTG	p.L78L	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.L79L	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	BAFF receptor	78	Extracellular (Potential).					integral to membrane	receptor activity				0						GGGCGCCAAAGAGCAGCCCGG	0.662		NA											3	6					0	0	0	0
EFCAB6	64800	broad.mit.edu	37	22	44063042	44063042	+	Missense_Mutation	SNP	C	C	T	rs148107489	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:44063042C>T	uc003bdy.1	-	17	2140	c.1925G>A	c.(1924-1926)CGA>CAA	p.R642Q	EFCAB6_uc003bdz.1_Missense_Mutation_p.R490Q|EFCAB6_uc010gzi.1_Missense_Mutation_p.R490Q|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	642	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				GTCAAGAAATCGTTTTTTGAA	0.403		NA											13	110					0	0	0	0
TGFBR2	7048	broad.mit.edu	37	3	30715717	30715717	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:30715717T>C	uc003ceo.2	+	5	1757	c.1375T>C	c.(1375-1377)TCT>CCT	p.S459P	TGFBR2_uc003cen.2_Missense_Mutation_p.S484P	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	459	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GGAAATGACATCTCGCTGTAA	0.463		NA											28	48					0	0	0	0
STAB1	23166	broad.mit.edu	37	3	52552020	52552020	+	Splice_Site	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:52552020G>C	uc003dej.2	+	45	4835	c.4761_splice	c.e45+1	p.L1587_splice	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor						cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGTCGGCCTGGTAATGATGCC	0.612		NA											11	49					0	0	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629868	122629868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:122629868G>A	uc003efz.1	-	22	3420	c.3116C>T	c.(3115-3117)GCC>GTC	p.A1039V	SEMA5B_uc011bju.1_Missense_Mutation_p.A945V|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A1039V|SEMA5B_uc003efy.1_Missense_Mutation_p.A17V	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1039	Helical; Signal-anchor for type III membrane protein; (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GATGCCCGTGGCCACCAAGTG	0.597		NA											5	21					0	0	0	0
A4GNT	51146	broad.mit.edu	37	3	137850095	137850095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:137850095G>A	uc003ers.2	-	2	206	c.4C>T	c.(4-6)CGG>TGG	p.R2W		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	2	Cytoplasmic (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						AGCTCCTTCCGCATGTCCTCT	0.413		NA											6	26					0	0	0	0
CLSTN2	64084	broad.mit.edu	37	3	140185547	140185547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:140185547G>A	uc003etn.2	+	8	1508	c.1318G>A	c.(1318-1320)GCG>ACG	p.A440T	CLSTN2_uc003etm.2_Missense_Mutation_p.A440T	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	440	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CTTTCGCCCCGCGGAGTTCCA	0.572		NA								HNSCC(16;0.037)			6	28					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:178928079G>A	uc003fjk.2	+	8	1514	c.1357G>A	c.(1357-1359)GAA>AAA	p.E453K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		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.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)		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)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	59					0	0	0	0
BOD1L	259282	broad.mit.edu	37	4	13602988	13602988	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:13602988C>A	uc003gmz.1	-	10	5653	c.5536G>T	c.(5536-5538)GCT>TCT	p.A1846S	BOD1L_uc010idr.1_Missense_Mutation_p.A1183S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1846							DNA binding			ovary(5)|breast(1)	6						CAAGGACCAGCAGCAACTAAT	0.473		NA											14	67					0.000219431	0.000229406	1	0
FRYL	285527	broad.mit.edu	37	4	48523208	48523208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:48523208C>A	uc003gyh.1	-	55	8151	c.7546G>T	c.(7546-7548)GAA>TAA	p.E2516*	FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Nonsense_Mutation_p.E1212*|FRYL_uc003gyi.1_Nonsense_Mutation_p.E1404*|FRYL_uc003gyj.1_Nonsense_Mutation_p.E811*	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2516					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GGTATTGTTTCATCAGTGGCA	0.388		NA											12	45					1.58e-08	1.76e-08	1	0
CEP135	9662	broad.mit.edu	37	4	56823519	56823519	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:56823519G>A	uc003hbi.2	+	5	837	c.603G>A	c.(601-603)GTG>GTA	p.V201V	CEP135_uc003hbh.1_Silent_p.V201V|CEP135_uc010igz.1_Silent_p.V31V	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	201	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TCCTTCAAGTGGCTGATAACA	0.348		NA											11	53					0	0	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713465	70713465	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:70713465T>C	uc003heo.2	-	6	655	c.542A>G	c.(541-543)AAG>AGG	p.K181R		NM_005420	NP_005411	P49888	ST1E1_HUMAN	estrogen sulfotransferase	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			ovary(1)	1						ACTCTTTCCCTTTTCCCACCA	0.373		NA											3	63					0	0	0	0
HELQ	113510	broad.mit.edu	37	4	84348802	84348802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:84348802C>T	uc003hom.2	-	13	2769	c.2590G>A	c.(2590-2592)GAA>AAA	p.E864K	HELQ_uc010ikb.2_Missense_Mutation_p.E797K|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	864							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AGAAGGCTTTCAAGCACAAGT	0.368		NA						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					10	47					0	0	0	0
FAM190A	401145	broad.mit.edu	37	4	91389411	91389411	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:91389411G>A	uc003hsv.3	+	5	1970	c.1630G>A	c.(1630-1632)GTC>ATC	p.V544I	FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.V544I	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	544										large_intestine(1)|ovary(1)	2						ATATCACTCTGTCGTCTCATG	0.398		NA											4	24					0	0	0	0
TRPC3	7222	broad.mit.edu	37	4	122800994	122800994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:122800994C>T	uc003ieg.2	-	12	2737	c.2663G>A	c.(2662-2664)CGT>CAT	p.R888H	TRPC3_uc010inr.2_Missense_Mutation_p.R760H|TRPC3_uc003ief.2_Missense_Mutation_p.R815H|TRPC3_uc011cgl.1_Missense_Mutation_p.R552H	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	803	Extracellular (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AAGTTCATAACGAAGGCTGGA	0.333		NA											9	28					0	0	0	0
FAT4	79633	broad.mit.edu	37	4	126336256	126336256	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:126336256T>A	uc003ifj.3	+	5	6138	c.6138T>A	c.(6136-6138)GAT>GAA	p.D2046E	FAT4_uc011cgp.1_Missense_Mutation_p.D344E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2046	Cadherin 19.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATGTAAATGATAACCCACCGA	0.408		NA											24	118					0	0	0	0
MCCC2	64087	broad.mit.edu	37	5	70948526	70948526	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:70948526G>T	uc003kbs.3	+	16	1657	c.1519G>T	c.(1519-1521)GAG>TAG	p.E507*	MCCC2_uc003kbt.3_RNA	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	507	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGCTTTAAAAGAGCCCATCAT	0.463		NA											9	32					2.18e-05	2.3e-05	1	0
PCDHB2	56133	broad.mit.edu	37	5	140476702	140476702	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:140476702C>T	uc003lil.2	+	1	2466	c.2328C>T	c.(2326-2328)TTC>TTT	p.F776F	PCDHB2_uc003lim.1_Silent_p.F437F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	776	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507		NA											20	79					0	0	0	0
SYNPO	11346	broad.mit.edu	37	5	150027825	150027825	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:150027825C>T	uc003lsn.2	+	3	1094	c.720C>T	c.(718-720)GTC>GTT	p.V240V	SYNPO_uc003lso.3_5'UTR|SYNPO_uc003lsp.2_5'UTR	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	240					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGAGGGGTCCCTGGCCACA	0.667		NA											10	23					0	0	0	0
FAT2	2196	broad.mit.edu	37	5	150922849	150922849	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:150922849A>C	uc003lue.3	-	9	7852	c.7839T>G	c.(7837-7839)GAT>GAG	p.D2613E	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2613	Cadherin 23.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGACCTTCATCTGCATCAT	0.458		NA											39	154					0	0	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514184	156514184	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:156514184C>T	uc003lwk.1	-	7	979	c.835G>A	c.(835-837)GAG>AAG	p.E279K		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	279	Cytoplasmic (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATAATACTCATTGGGCTCC	0.463		NA											11	43					0	0	0	0
DOCK2	1794	broad.mit.edu	37	5	169502981	169502981	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:169502981C>A	uc003maf.2	+	47	4839	c.4759C>A	c.(4759-4761)CAT>AAT	p.H1587N	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.H1079N|DOCK2_uc003mah.2_Missense_Mutation_p.H143N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1587	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATTAAGATCCATGAGAAAAG	0.532		NA											23	107					1.97e-08	2.18e-08	1	0
HIST1H4E	8367	broad.mit.edu	37	6	26205150	26205150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:26205150G>C	uc003ngy.2	+	1	278	c.278G>C	c.(277-279)AGA>ACA	p.R93T		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	93					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				GCGCTGAAGAGACAGGGACGC	0.537		NA											6	43					0	0	0	0
MICB	4277	broad.mit.edu	37	6	31474816	31474816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:31474816G>A	uc003ntn.3	+	4	747	c.631G>A	c.(631-633)GTC>ATC	p.V211I	MICB_uc011dnm.1_Missense_Mutation_p.V179I|MICB_uc003nto.3_Missense_Mutation_p.V168I	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	211	Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						CATGGTGAATGTCACCTGCAG	0.587		NA											10	42					0	0	0	0
ENPP1	5167	broad.mit.edu	37	6	132195426	132195426	+	Silent	SNP	A	A	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:132195426A>G	uc011ecf.1	+	16	1604	c.1584A>G	c.(1582-1584)AAA>AAG	p.K528K	ENPP1_uc003qcy.2_Silent_p.K158K	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	528	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGAAAGGAAATATTGTGGAA	0.259		NA											19	83					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152647096	152647096	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:152647096G>T	uc010kiw.2	-	80	16037	c.15435C>A	c.(15433-15435)CAC>CAA	p.H5145Q	SYNE1_uc003qot.3_Missense_Mutation_p.H5074Q|SYNE1_uc003qou.3_Missense_Mutation_p.H5145Q|SYNE1_uc010kiz.2_Missense_Mutation_p.H900Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5145	Spectrin 16.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTGACCTTGTGTTCTGACA	0.313		NA								HNSCC(10;0.0054)			4	31					0.00024832	0.000256912	1	0
RBM16	22828	broad.mit.edu	37	6	155153217	155153217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:155153217C>T	uc003qqa.2	+	21	2736	c.2504C>T	c.(2503-2505)TCC>TTC	p.S835F	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.S901F|RBM16_uc011efk.1_Missense_Mutation_p.S880F|RBM16_uc003qpz.2_Missense_Mutation_p.S835F|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	835	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		TCTAATGTTTCCAGTAGTTCT	0.423		NA											11	84					0	0	0	0
HDAC9	9734	broad.mit.edu	37	7	18788641	18788641	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:18788641C>T	uc003suh.2	+	13	1955	c.1914C>T	c.(1912-1914)GAC>GAT	p.D638D	HDAC9_uc003sue.2_Silent_p.D638D|HDAC9_uc011jyd.1_Silent_p.D638D|HDAC9_uc003sui.2_Silent_p.D641D|HDAC9_uc003suj.2_Silent_p.D597D|HDAC9_uc003sua.1_Silent_p.D616D|HDAC9_uc010kue.1_Silent_p.D293D	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	638	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGCCTATGACCCCTTGATGC	0.428		NA											6	15					0	0	0	0
BBS9	27241	broad.mit.edu	37	7	33185916	33185916	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:33185916G>C	uc003tdn.1	+	2	565	c.52G>C	c.(52-54)GAA>CAA	p.E18Q	BBS9_uc003tdo.1_Missense_Mutation_p.E18Q|BBS9_uc003tdp.1_Missense_Mutation_p.E18Q|BBS9_uc003tdq.1_Missense_Mutation_p.E18Q|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.E18Q	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	18					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GGGAGATAAAGAAGAATTTGA	0.333		NA							Bardet-Biedl_syndrome				15	58					0	0	0	0
PKD1L1	168507	broad.mit.edu	37	7	47920383	47920383	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:47920383T>C	uc003tny.1	-	21	3463	c.3463A>G	c.(3463-3465)ACA>GCA	p.T1155A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1155	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGCTTGATTGTCACTGTCTGT	0.468		NA											9	43					0	0	0	0
ABCB4	5244	broad.mit.edu	37	7	87081037	87081037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:87081037C>T	uc003uiv.1	-	7	686	c.610G>A	c.(610-612)GCA>ACA	p.A204T	ABCB4_uc003uiw.1_Missense_Mutation_p.A204T|ABCB4_uc003uix.1_Missense_Mutation_p.A204T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	204	Helical; (By similarity).|ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGAATCCTGCAAAAAACGTG	0.443		NA											15	76					0	0	0	0
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:116869938A>C	uc011knn.1	+	14	1470	c.1465A>C	c.(1465-1467)ACC>CCC	p.T489P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507		NA											6	22					0	0	0	0
TSGA14	95681	broad.mit.edu	37	7	130039889	130039889	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:130039889C>A	uc003vpz.2	-	10	1011	c.964G>T	c.(964-966)GAT>TAT	p.D322Y	TSGA14_uc003vpy.2_Missense_Mutation_p.D84Y|TSGA14_uc010lmf.2_Missense_Mutation_p.D119Y|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	322					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					CTAGGATGATCTGCAGGCCCT	0.383		NA											14	74					1.58e-08	1.76e-08	1	0
KCNU1	157855	broad.mit.edu	37	8	36673194	36673194	+	Silent	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:36673194C>G	uc010lvw.2	+	9	1071	c.984C>G	c.(982-984)CTC>CTG	p.L328L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	328	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATGAAGCACTCAAAGGAAAGA	0.323		NA											6	26					0	0	0	0
GOT1L1	137362	broad.mit.edu	37	8	37793279	37793279	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:37793279T>C	uc011lbj.1	-	7	972	c.872A>G	c.(871-873)AAC>AGC	p.N291S		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TGCACCCGTGTTGGGGGGGTT	0.612		NA											9	22					0	0	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68208832	68208832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:68208832G>A	uc003xxo.1	-	5	863	c.473C>T	c.(472-474)GCA>GTA	p.A158V		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	158					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)			TGATGTTACTGCAGTAAGTAA	0.244		NA											3	31					0	0	0	0
RBM12B	389677	broad.mit.edu	37	8	94748464	94748464	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:94748464G>A	uc003yfz.2	-	3	368	c.175C>T	c.(175-177)CGT>TGT	p.R59C		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	59							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTGAACGACTTATGGCA	0.403		NA											31	99					0	0	0	0
UNC13B	10497	broad.mit.edu	37	9	35389887	35389887	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:35389887C>A	uc003zwq.2	+	24	3184	c.2892C>A	c.(2890-2892)AAC>AAA	p.N964K	UNC13B_uc003zwr.2_Missense_Mutation_p.N964K	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	964					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTCGGAACCTGGATTTCT	0.483		NA											23	83					1.5e-11	1.69e-11	1	0
KIAA1529	57653	broad.mit.edu	37	9	100137790	100137790	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:100137790C>A	uc011lut.1	+	48	6083	c.5310C>A	c.(5308-5310)CTC>CTA	p.L1770L	KIAA1529_uc004axe.1_Silent_p.L1576L|KIAA1529_uc004axg.1_Silent_p.L1631L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.L724L	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				AGATTCTTCTCCAGCCAACAT	0.522		NA											14	50					3.27e-08	3.61e-08	1	0
DBC1	1620	broad.mit.edu	37	9	121971050	121971050	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:121971050G>A	uc004bkc.2	-	7	1548	c.1092C>T	c.(1090-1092)TTC>TTT	p.F364F		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	364					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CACTGAGGCCGAAAAGCTTGC	0.587		NA											10	35					0	0	0	0
SPTAN1	6709	broad.mit.edu	37	9	131345356	131345356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:131345356G>T	uc004bvl.3	+	15	1920	c.1807G>T	c.(1807-1809)GAT>TAT	p.D603Y	SPTAN1_uc011mbg.1_Missense_Mutation_p.D603Y|SPTAN1_uc011mbh.1_Missense_Mutation_p.D615Y|SPTAN1_uc004bvm.3_Missense_Mutation_p.D603Y|SPTAN1_uc004bvn.3_Missense_Mutation_p.D603Y	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	603	Spectrin 7.				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						TTATTCACAGGATCCATCCAA	0.438		NA											8	27					0.00307968	0.00314274	1	0
NOTCH1	4851	broad.mit.edu	37	9	139401394	139401394	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:139401394G>T	uc004chz.2	-	23	3675	c.3675C>A	c.(3673-3675)TGC>TGA	p.C1225*	NOTCH1_uc004cia.1_Nonsense_Mutation_p.C455*	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1225	Extracellular (Potential).|EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGGGGGATTGCAGTCGTCCA	0.687		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			3	6					0.00024832	0.000256912	1	0
ATP7A	538	broad.mit.edu	37	X	77245061	77245061	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:77245061A>T	uc004ecx.3	+	4	1103	c.943A>T	c.(943-945)AGG>TGG	p.R315W	ATP7A_uc004ecw.2_Missense_Mutation_p.R315W	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	315	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TTTAGAGAATAGGTCTGCCAT	0.388		NA											34	166					0	0	0	0
DRP2	1821	broad.mit.edu	37	X	100497333	100497333	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:100497333C>A	uc004egz.2	+	8	1217	c.848C>A	c.(847-849)TCC>TAC	p.S283Y	DRP2_uc011mrh.1_Missense_Mutation_p.S205Y	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	283	Spectrin 2.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GAAGAATTCTCCCCCATGAAA	0.478		NA											46	226					8.21e-20	9.33e-20	1	0
KIAA1210	57481	broad.mit.edu	37	X	118222748	118222748	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:118222748G>A	uc004era.3	-	11	2445	c.2445C>T	c.(2443-2445)TTC>TTT	p.F815F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	815										ovary(4)|skin(1)	5						TTGATTCTGAGAAGACTTCTT	0.483		NA											6	28					0	0	0	0
GPR112	139378	broad.mit.edu	37	X	135428693	135428693	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:135428693C>T	uc004ezu.1	+	6	3119	c.2828C>T	c.(2827-2829)TCA>TTA	p.S943L	GPR112_uc010nsb.1_Missense_Mutation_p.S738L|GPR112_uc010nsc.1_Missense_Mutation_p.S710L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	943	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CATTGGACTTCAGAGACATCT	0.423		NA											36	168					0	0	0	0
L1CAM	3897	broad.mit.edu	37	X	153135917	153135917	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:153135917G>A	uc004fjb.2	-	7	840	c.732C>T	c.(730-732)TTC>TTT	p.F244F	L1CAM_uc004fjc.2_Silent_p.F244F|L1CAM_uc010nuo.2_Silent_p.F239F|L1CAM_uc004fjd.1_Silent_p.F58F|L1CAM_uc004fje.1_Silent_p.F239F	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	244	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTTGGTGGGGAAGAGCAGGC	0.592		NA											9	36					0	0	0	0
PADI2	11240	broad.mit.edu	37	1	17413121	17413121	+	Frame_Shift_Del	DEL	A	A	-	rs2076615	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:17413121delA	uc001baf.2	-	7	811	c.729delT	c.(727-729)GGTfs	p.G243fs	PADI2_uc010ocm.1_Frame_Shift_Del_p.V162fs|PADI2_uc001bag.1_Frame_Shift_Del_p.G243fs	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	243					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCGCGGAGCCACCCGTGTACT	0.597		NA											8	74	---	---	---	---	NA	NA	NA	NA
ANO3	63982	broad.mit.edu	37	11	26558965	26558966	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:26558965_26558966delTT	uc001mqt.3	+	10	1134_1135	c.989_990delTT	c.(988-990)CTTfs	p.L330fs	ANO3_uc010rdr.1_Frame_Shift_Del_p.L314fs|ANO3_uc010rds.1_Frame_Shift_Del_p.L169fs|ANO3_uc010rdt.1_Frame_Shift_Del_p.L184fs	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	330	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATCCGTAAACTTATAAACAATG	0.361		NA											16	82	---	---	---	---	NA	NA	NA	NA
DSG3	1830	broad.mit.edu	37	18	29052346	29052346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:29052346delT	uc002kws.2	+	13	2106	c.1997delT	c.(1996-1998)ATTfs	p.I666fs	DSG3_uc002kwt.2_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	666	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAAGGAACAATTCATCAGTGG	0.453		NA											13	42	---	---	---	---	NA	NA	NA	NA
GALNT13	114805	broad.mit.edu	37	2	155102369	155102369	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:155102369delC	uc002tyr.3	+	7	1298	c.731delC	c.(730-732)ACTfs	p.T244fs	GALNT13_uc002tyt.3_Frame_Shift_Del_p.T244fs|GALNT13_uc010foc.1_Frame_Shift_Del_p.T63fs|GALNT13_uc010fod.2_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	244	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AGTGATGATACTTTTGAATAT	0.373		NA											17	68	---	---	---	---	NA	NA	NA	NA
NECAB1	64168	broad.mit.edu	37	8	91836982	91836982	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:91836982delT	uc011lgg.1	+	3	356	c.162delT	c.(160-162)TATfs	p.Y54fs		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	54	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCAAAGCATATTTTGCAGATG	0.313		NA											2	4	---	---	---	---	NA	NA	NA	NA
PLEC	5339	broad.mit.edu	37	8	144993120	144993122	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:144993120_144993122delGAT	uc003zaf.1	-	32	11448_11450	c.11278_11280delATC	c.(11278-11280)ATCdel	p.I3760del	PLEC_uc003zab.1_In_Frame_Del_p.I3623del|PLEC_uc003zac.1_In_Frame_Del_p.I3627del|PLEC_uc003zad.2_In_Frame_Del_p.I3623del|PLEC_uc003zae.1_In_Frame_Del_p.I3591del|PLEC_uc003zag.1_In_Frame_Del_p.I3601del|PLEC_uc003zah.2_In_Frame_Del_p.I3609del|PLEC_uc003zaj.2_In_Frame_Del_p.I3650del	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3760	Globular 2.				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						CAATGATCTCGATGATGATGATG	0.621		NA											15	68	---	---	---	---	NA	NA	NA	NA
