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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
ACAP3	116983	broad.mit.edu	37	1	1235580	1235580	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1235580G>A	uc001aeb.2	-	7	599	c.525C>T	c.(523-525)ATC>ATT	p.I175I	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Silent_p.I133I|ACAP3_uc001aec.1_Silent_p.I133I	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	175					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						GCAGAACATTGATCTGCCAGA	0.632		NaN											0	0	0	0.013537	0	13	15				
TAS1R3	83756	broad.mit.edu	37	1	1267925	1267925	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1267925G>A	uc010nyk.1	+	3	1014	c.1014G>A	c.(1012-1014)GTG>GTA	p.V338V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	338	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CCCAGTACGTGAAGACGCACC	0.701		NaN											0	0	0	0.004482	0	9	27				
TAS1R3	83756	broad.mit.edu	37	1	1268955	1268955	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1268955G>A	uc010nyk.1	+	6	1670	c.1670G>A	c.(1669-1671)CGC>CAC	p.R557H		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	557	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGCTTCCGCCGCAGGTCTCGG	0.657		NaN											0	0	0	0.010729	0	11	31				
LRRC47	57470	broad.mit.edu	37	1	3697705	3697705	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:3697705G>A	uc001akx.1	-	7	1727	c.1699C>T	c.(1699-1701)CCG>TCG	p.P567S		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	567					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GCCTTGGACGGGTACACCACC	0.652		NaN											0	0	0	0.006122	0	18	45				
H6PD	9563	broad.mit.edu	37	1	9305294	9305294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:9305294C>T	uc001apt.2	+	2	574	c.301C>T	c.(301-303)CAG>TAG	p.Q101*		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	101	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCACAAGGATCAGTTCCTGCA	0.617		NaN											0	0	0	0.019004	0	39	29				
VPS13D	55187	broad.mit.edu	37	1	12401928	12401928	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:12401928C>T	uc001atv.2	+	41	8859	c.8718C>T	c.(8716-8718)ACC>ACT	p.T2906T	VPS13D_uc001atw.2_Silent_p.T2881T|VPS13D_uc001atx.2_Silent_p.T2093T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2905					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCACCCTGACCACCACACCCA	0.572		NaN											0	0	0	0.008871	0	18	70				
SPEN	23013	broad.mit.edu	37	1	16265886	16265886	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:16265886C>T	uc001axk.1	+	15	11163	c.10959C>T	c.(10957-10959)ATC>ATT	p.I3653I	SPEN_uc010obp.1_Silent_p.I3612I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3653	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTCCAACATCTCTCCCCACC	0.557		NaN											0	0	0	0.01441	0	57	138				
UBR4	23352	broad.mit.edu	37	1	19439182	19439182	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:19439182G>A	uc001bbi.2	-	78	11641	c.11637C>T	c.(11635-11637)GTC>GTT	p.V3879V	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3879					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AATGTTCTGTGACAGCCGAGG	0.582		NaN											0	0	0	0.011902	0	44	112				
HTR6	3362	broad.mit.edu	37	1	19992501	19992501	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:19992501G>A	uc001bcl.2	+	1	722	c.255G>A	c.(253-255)CTG>CTA	p.L85L		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	85	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGGCCATGCTGAACGCGCTGT	0.667		NaN											0	0	0	0.00308	0	8	36				
RAP1GAP	5909	broad.mit.edu	37	1	21940120	21940120	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:21940120C>A	uc001bex.2	-	9	732	c.474_splice	c.e9+1	p.K158_splice	RAP1GAP_uc001bev.2_Splice_Site_p.K158_splice|RAP1GAP_uc001bew.2_Splice_Site_p.K222_splice|RAP1GAP_uc001bey.2_Splice_Site_p.K158_splice	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGAGACCTCACCTTTGCCATC	0.597		NaN											1	0	1.16021e-09	0.007291	1.21631e-09	28	36				
MYOM3	127294	broad.mit.edu	37	1	24408602	24408602	+	Silent	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:24408602G>C	uc001bin.3	-	18	2332	c.2169C>G	c.(2167-2169)CCC>CCG	p.P723P	MYOM3_uc001bim.3_Silent_p.P380P|MYOM3_uc001bio.2_Silent_p.P723P|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	723	Fibronectin type-III 4.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACGACGCTTGGGGGGTTTCC	0.592		NaN											0	0	0	0.00308	0	8	18				
SEPN1	57190	broad.mit.edu	37	1	26135144	26135144	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:26135144G>A	uc010oer.1	+	7	666	c.611G>A	c.(610-612)CGC>CAC	p.R204H	SEPN1_uc010oes.1_Missense_Mutation_p.R170H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	204						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCCACCCGCCACTTCCAG	0.657		NaN											0	0	0	0.015359	0	34	58				
ARID1A	8289	broad.mit.edu	37	1	27059194	27059194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:27059194C>T	uc001bmv.1	+	4	2204	c.1831C>T	c.(1831-1833)CAG>TAG	p.Q611*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q611*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q611*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q228*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	611					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATTTGGGTCTCAGGCATCCTC	0.478		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.006122	0	19	69		Valid		
FGR	2268	broad.mit.edu	37	1	27948152	27948152	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:27948152C>T	uc001boj.2	-	3	492	c.346G>A	c.(346-348)GAG>AAG	p.E116K	FGR_uc001bok.2_Missense_Mutation_p.E116K|FGR_uc001bol.2_Missense_Mutation_p.E116K|FGR_uc001bom.2_Missense_Mutation_p.E116K	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	116	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GACCGAGCCTCCCACCAGTCA	0.592		NaN											0	0	0	0.00245	0	14	44				
PTPRU	10076	broad.mit.edu	37	1	29585795	29585795	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:29585795C>G	uc001bru.2	+	4	610	c.500C>G	c.(499-501)TCC>TGC	p.S167C	PTPRU_uc001brv.2_Missense_Mutation_p.S167C|PTPRU_uc001brw.2_Missense_Mutation_p.S167C|PTPRU_uc009vtq.2_Missense_Mutation_p.S167C|PTPRU_uc009vtr.2_Missense_Mutation_p.S167C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	167	Extracellular (Potential).|MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCCTCATCTCCCCAGACCGC	0.642		NaN											0	0	0	0.00308	0	7	38				
SPOCD1	90853	broad.mit.edu	37	1	32257898	32257898	+	Silent	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:32257898A>T	uc001bts.1	-	15	2938	c.2880T>A	c.(2878-2880)TCT>TCA	p.S960S	SPOCD1_uc001btr.1_Silent_p.S48S|SPOCD1_uc001btt.2_Silent_p.S265S|SPOCD1_uc001btu.2_Silent_p.S960S|SPOCD1_uc001btv.2_Silent_p.S453S	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	960	SPOC.				transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGTGCTCCACAGAGGCCAGCC	0.667		NaN											0	0	0	0.004482	0	8	11				
RBBP4	5928	broad.mit.edu	37	1	33134689	33134689	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:33134689T>C	uc001bvr.2	+	6	876	c.717T>C	c.(715-717)CAT>CAC	p.H239H	RBBP4_uc001bvs.2_Silent_p.H238H|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Silent_p.H204H	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	239	WD 3.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCTACTCCATGAGTCTCTGT	0.413		NaN											0	0	0	0.01441	0	53	70				
GJB4	127534	broad.mit.edu	37	1	35227557	35227557	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:35227557C>T	uc001bxv.1	+	2	1072	c.702C>T	c.(700-702)TGC>TGT	p.C234C	GJB4_uc001bxw.3_Silent_p.C234C	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	234	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCGATACGTGCCCACCATATG	0.612		NaN											0	0	0	0.005443	0	26	47				
THRAP3	9967	broad.mit.edu	37	1	36754808	36754808	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:36754808A>C	uc001cae.3	+	5	1412	c.1188A>C	c.(1186-1188)AAA>AAC	p.K396N	THRAP3_uc001caf.3_Missense_Mutation_p.K396N|THRAP3_uc001cag.1_Missense_Mutation_p.K396N	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	396					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCTCCCAAAACTGATTCTG	0.418		NaN	T	USP6	aneurysmal bone cysts								0	0	0	0.005443	0	29	68				
DPH2	1802	broad.mit.edu	37	1	44435913	44435913	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:44435913G>A	uc001ckz.2	+	1	261	c.66G>A	c.(64-66)CTG>CTA	p.L22L	DPH2_uc001cla.2_Silent_p.L22L|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	22					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGCCAGGACTGCTTACTCCTC	0.632		NaN											0	0	0	0.015359	0	35	35				
LRRC42	115353	broad.mit.edu	37	1	54417905	54417905	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:54417905G>T	uc001cwj.1	+	2	433	c.233G>T	c.(232-234)CGA>CTA	p.R78L	LRRC42_uc001cwl.1_Missense_Mutation_p.R78L|LRRC42_uc001cwk.1_Missense_Mutation_p.R78L|LRRC42_uc009vzm.1_Missense_Mutation_p.R78L	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	78											0						ACATACACCCGAGAGGGGAAT	0.483		NaN											1	0	2.24059e-21	0.00632	2.43367e-21	30	97				
TMEM61	199964	broad.mit.edu	37	1	55452006	55452006	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:55452006C>A	uc001cyd.2	+	2	526	c.252C>A	c.(250-252)GGC>GGA	p.G84G		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	84	Helical; (Potential).					integral to membrane					0						TGCTCATTGGCCTGCTGTGGT	0.647		NaN											1	0	3.01185e-09	0.003954	3.15139e-09	26	94				
DOCK7	85440	broad.mit.edu	37	1	62939693	62939693	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:62939693G>C	uc001daq.2	-	47	6173	c.6139C>G	c.(6139-6141)CAT>GAT	p.H2047D	DOCK7_uc001dan.2_Missense_Mutation_p.H1910D|DOCK7_uc001dao.2_Missense_Mutation_p.H1908D|DOCK7_uc001dap.2_Missense_Mutation_p.H2027D|DOCK7_uc001dam.2_Missense_Mutation_p.H1229D|DOCK7_uc010oov.1_Missense_Mutation_p.H788D|DOCK7_uc001dar.1_Missense_Mutation_p.H221D	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2058	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AGTTTATTATGATGTCTGAAG	0.368		NaN											0	0	0	0.00499	0	14	29				
TNNI3K	51086	broad.mit.edu	37	1	74737353	74737353	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:74737353C>T	uc001dgf.1	+	5	456	c.405C>T	c.(403-405)CTC>CTT	p.L135L	TNNI3K_uc001dgc.1_Silent_p.L236L|TNNI3K_uc001dgd.2_Silent_p.L236L|TNNI3K_uc001dge.1_Silent_p.L236L	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	135	ANK 3.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						ACGGTGGCCTCACTGCCCTCC	0.433		NaN											0	0	0	0.005524	0	38	57				
WDR63	126820	broad.mit.edu	37	1	85592370	85592370	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:85592370C>G	uc001dkt.2	+	20	2480	c.2289C>G	c.(2287-2289)ATC>ATG	p.I763M	WDR63_uc009wcl.2_Missense_Mutation_p.I724M	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	763	WD 5.									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAACTATGATCACCTACATCA	0.383		NaN											0	0	0	0.007291	0	27	46				
LPPR5	163404	broad.mit.edu	37	1	99387566	99387566	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:99387566G>A	uc001dsb.2	-	4	892	c.670C>T	c.(670-672)CCA>TCA	p.P224S	LPPR5_uc001dsc.2_Missense_Mutation_p.P224S	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	224						integral to membrane	hydrolase activity				0						CATAGAACTGGCTTAGCAAGT	0.368		NaN											0	0	0	0.013537	0	13	36				
PSMA5	5686	broad.mit.edu	37	1	109957934	109957934	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:109957934C>G	uc001dxn.2	-	3	233	c.148G>C	c.(148-150)GTG>CTG	p.V50L	PSMA5_uc010ovj.1_5'UTR	NM_002790	NP_002781	P28066	PSA5_HUMAN	proteasome alpha 5 subunit	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CTCTTCTCCACAGCTAGGCAC	0.433		NaN											0	0	0	0.00632	0	29	31				
GSTM4	2948	broad.mit.edu	37	1	110199865	110199865	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:110199865G>A	uc001dyf.2	+	3	455	c.141G>A	c.(139-141)CTG>CTA	p.L47L	GSTM4_uc009wfi.2_3'UTR|GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Silent_p.L47L|GSTM4_uc001dyh.2_Silent_p.L47L|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	47	Glutathione binding (By similarity).|GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCAGTGGCTGAATGAAAAAT	0.567		NaN											0	0	0	0.012319	0	19	44				
PRPF3	9129	broad.mit.edu	37	1	150307445	150307445	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:150307445G>T	uc001eum.3	+	7	930	c.768G>T	c.(766-768)CTG>CTT	p.L256L	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.L215L|PRPF3_uc010pcb.1_Silent_p.L207L|PRPF3_uc009wlq.1_RNA	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	256					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTACACCACTGATCCTGGATG	0.448		NaN											1	0	0.000308642	0.003163	0.000315036	14	11				
TARS2	80222	broad.mit.edu	37	1	150471769	150471769	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:150471769G>T	uc001euq.2	+	13	1624	c.1617G>T	c.(1615-1617)AAG>AAT	p.K539N	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.K457N|TARS2_uc009wlt.2_Missense_Mutation_p.K165N|TARS2_uc009wls.2_Missense_Mutation_p.K409N	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	539					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ATGGACCTAAGGTAAGCTTGG	0.348		NaN											1	0	2.24722e-20	0.01441	2.43599e-20	48	80				
F11R	50848	broad.mit.edu	37	1	160970508	160970508	+	Missense_Mutation	SNP	G	G	A	rs116727809	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:160970508G>A	uc009wtt.2	-	4	571	c.301C>T	c.(301-303)CGG>TGG	p.R101W	F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Missense_Mutation_p.R101W|F11R_uc009wtu.2_Missense_Mutation_p.R101W|F11R_uc010pjw.1_Missense_Mutation_p.R105W|F11R_uc001fxf.3_Missense_Mutation_p.R101W	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	101	Extracellular (Potential).|Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GTGTCTTCCCGTGTCACGGAC	0.542		NaN											0	0	0	0.016723	0	13	38				
TNR	7143	broad.mit.edu	37	1	175334312	175334312	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:175334312G>A	uc001gkp.1	-	10	2502	c.2421C>T	c.(2419-2421)AAC>AAT	p.N807N	TNR_uc009wwu.1_Silent_p.N807N	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	807	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGGGGCTGTAGTTAAGAATGA	0.532		NaN											0	0	0	0.010729	0	11	28				
PAPPA2	60676	broad.mit.edu	37	1	176659286	176659286	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:176659286C>T	uc001gkz.2	+	5	3315	c.2151C>T	c.(2149-2151)CTC>CTT	p.L717L	PAPPA2_uc001gky.1_Silent_p.L717L|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	717	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GCATTGTCCTCAGCCCAGCAT	0.423		NaN											0	0	0	0.016522	0	24	60				
CACNA1E	777	broad.mit.edu	37	1	181745299	181745299	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:181745299C>T	uc001gow.2	+	38	5367	c.5202C>T	c.(5200-5202)TCC>TCT	p.S1734S	CACNA1E_uc009wxs.2_Silent_p.S1622S|CACNA1E_uc001gox.1_Silent_p.S960S|CACNA1E_uc009wxt.2_Silent_p.S960S	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1734	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GGGACTCCTCCATCCTGGGGC	0.607		NaN											0	0	0	0.001168	0	6	117				
RGS16	6004	broad.mit.edu	37	1	182572448	182572448	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:182572448C>A	uc001gpl.3	-	2	225	c.71G>T	c.(70-72)GGG>GTG	p.G24V	RGS16_uc010pnv.1_Missense_Mutation_p.G24V	NM_002928	NP_002919	O15492	RGS16_HUMAN	regulator of G-protein signalling 16	24					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(1)	1						AAGAAAGATCCCCAGACGTGT	0.478		NaN											1	0	3.65163e-15	0.00632	3.87316e-15	26	36				
IVNS1ABP	10625	broad.mit.edu	37	1	185269206	185269206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:185269206G>A	uc001grl.2	-	13	2049	c.1426C>T	c.(1426-1428)CAA>TAA	p.Q476*	IVNS1ABP_uc001gri.2_Nonsense_Mutation_p.Q136*|IVNS1ABP_uc001grj.2_Nonsense_Mutation_p.Q136*|IVNS1ABP_uc009wyj.2_Nonsense_Mutation_p.Q258*|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Nonsense_Mutation_p.Q136*	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	476	Kelch 3.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						AGTCCTTTTTGACCATATGGA	0.323		NaN											0	0	0	0.007413	0	19	30				
HMCN1	83872	broad.mit.edu	37	1	186057737	186057737	+	Splice_Site	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:186057737G>C	uc001grq.1	+	63	9807	c.9578_splice	c.e63-1	p.E3193_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCTACCTCTAGAAAATTCTGA	0.338		NaN											0	0	0	0.006214	0	9	15				
ASPM	259266	broad.mit.edu	37	1	197072405	197072405	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:197072405G>C	uc001gtu.2	-	18	6233	c.5976C>G	c.(5974-5976)ATC>ATG	p.I1992M	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1992	IQ 13.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CTTTTTTCATGATTTTCCACT	0.338		NaN											0	0	0	0.005443	0	29	80				
CR2	1380	broad.mit.edu	37	1	207644106	207644106	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:207644106T>C	uc001hfw.2	+	7	1341	c.1247T>C	c.(1246-1248)ATC>ACC	p.I416T	CR2_uc001hfv.2_Missense_Mutation_p.I416T|CR2_uc009xch.2_Missense_Mutation_p.I416T|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	416	Sushi 7.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						CCTCCTAACATCCTCAATGGG	0.408		NaN											0	0	0	0.006122	0	16	41				
SLC30A1	7779	broad.mit.edu	37	1	211751728	211751728	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:211751728C>T	uc001hio.1	-	1	372	c.227G>A	c.(226-228)CGA>CAA	p.R76Q		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter),	76	Cytoplasmic (Potential).				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	p.R76L(1)		ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TACCTCGGCTCGGATCCAGCC	0.662		NaN											0	0	0	0.00308	0	8	13				
MARK1	4139	broad.mit.edu	37	1	220825429	220825429	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:220825429C>G	uc001hmn.3	+	15	2270	c.1673C>G	c.(1672-1674)TCT>TGT	p.S558C	MARK1_uc009xdw.2_Missense_Mutation_p.S558C|MARK1_uc010pun.1_Missense_Mutation_p.S558C|MARK1_uc001hmm.3_Missense_Mutation_p.S536C	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	558					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		ATGTCCACTTCTGGTCATCCT	0.493		NaN											0	0	0	0.01892	0	25	46				
EXO1	9156	broad.mit.edu	37	1	242052811	242052811	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:242052811T>G	uc001hzh.2	+	16	2990	c.2450T>G	c.(2449-2451)GTC>GGC	p.V817G	EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_Missense_Mutation_p.V817G|EXO1_uc009xgq.2_Missense_Mutation_p.V816G	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	817	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTGTCCCCAGTCAGAGATAAC	0.373		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.012319	0	22	65				
SCCPDH	51097	broad.mit.edu	37	1	246927628	246927628	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:246927628T>C	uc001ibr.2	+	10	1418	c.1071T>C	c.(1069-1071)AAT>AAC	p.N357N		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	357						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ACAAACCAAATATCAAAATTT	0.383		NaN											0	0	0	0.013726	0	33	38				
SEC61A2	55176	broad.mit.edu	37	10	12197894	12197894	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:12197894A>T	uc001ile.2	+	7	727	c.580A>T	c.(580-582)AAG>TAG	p.K194*	SEC61A2_uc010qbq.1_Nonsense_Mutation_p.K172*|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Nonsense_Mutation_p.K194*	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	194	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)				CATTGTCTGGAAGGCCTTTAG	0.512		NaN											0	0	0	0.009718	0	45	91				
RUFY2	55680	broad.mit.edu	37	10	70105549	70105549	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:70105549C>T	uc001job.2	-	18	2229	c.1902G>A	c.(1900-1902)CAG>CAA	p.Q634Q	RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_Silent_p.Q189Q	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	648						nucleus	metal ion binding			ovary(1)	1						ATGAGCATCTCTGAATGAGCA	0.408		NaN											0	0	0	0.005443	0	29	78				
CDH23	64072	broad.mit.edu	37	10	73574927	73574927	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:73574927G>C	uc001jrx.3	+	68	10334	c.9957G>C	c.(9955-9957)GAG>GAC	p.E3319D	CDH23_uc001jsg.3_Missense_Mutation_p.E1079D|CDH23_uc001jsh.3_Missense_Mutation_p.E1044D|CDH23_uc001jsi.3_Missense_Mutation_p.E1044D|CDH23_uc001jsj.3_Missense_Mutation_p.E216D|CDH23_uc010qjr.1_Missense_Mutation_p.E181D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3319	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCGCTGCCGAGGCCACTGCCT	0.662		NaN											0	0	0	0.009096	0	4	9				
AGAP5	729092	broad.mit.edu	37	10	75457454	75457454	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:75457454T>C	uc009xri.2	-	1	101	c.60A>G	c.(58-60)CAA>CAG	p.Q20Q	AGAP5_uc001juu.3_5'UTR	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	20					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CCGACCCCTGTTGCTGGTCAA	0.607		NaN											0	0	0	0.009096	0	4	62				
ZMIZ1	57178	broad.mit.edu	37	10	81049571	81049571	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:81049571G>A	uc001kaf.2	+	9	1037	c.465G>A	c.(463-465)CAG>CAA	p.Q155Q	ZMIZ1_uc001kag.2_Silent_p.Q31Q|ZMIZ1_uc001kah.1_Silent_p.Q31Q	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	155					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTGGCAGCAGAACACCAACC	0.592		NaN											0	0	0	0.004482	0	7	42				
SNCG	6623	broad.mit.edu	37	10	88719796	88719796	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:88719796G>A	uc001keb.2	+	3	369	c.202G>A	c.(202-204)GAG>AAG	p.E68K	MMRN2_uc001kea.2_5'Flank|MMRN2_uc010qmn.1_5'Flank|MMRN2_uc009xtb.2_5'Flank	NM_003087	NP_003078	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein	68				E -> K (in Ref. 1; AAB64109).		microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding				0						CGCCGTGAGCGAGGCTGTGGT	0.677		NaN											0	0	0	0.014758	0	5	6				
IFIT2	3433	broad.mit.edu	37	10	91061883	91061883	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:91061883G>A	uc009xts.2	+	1	178	c.3G>A	c.(1-3)ATG>ATA	p.M1I	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	1					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				CTGCAACCATGAGGTAAATAT	0.468		NaN											0	0	0	0.016723	0	14	36				
IDE	3416	broad.mit.edu	37	10	94294474	94294474	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:94294474T>C	uc001kia.2	-	3	428	c.352A>G	c.(352-354)ACA>GCA	p.T118A		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	118					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATTTCTTTGTTCCCAAAAAA	0.348		NaN											0	0	0	0.00499	0	18	40				
CYP2C9	1559	broad.mit.edu	37	10	96707616	96707616	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:96707616G>C	uc001kka.3	+	4	587	c.562G>C	c.(562-564)GAT>CAT	p.D188H	CYP2C9_uc009xut.2_Missense_Mutation_p.D188H	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	188					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(4)|ovary(2)	6		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TAAACGTTTTGATTATAAAGA	0.383		NaN											0	0	0	0.005443	0	28	54				
TM9SF3	56889	broad.mit.edu	37	10	98307747	98307747	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:98307747C>T	uc001kmm.3	-	8	1177	c.960_splice	c.e8-1	p.E320_splice	TM9SF3_uc010qot.1_Splice_Site_p.E320_splice|TM9SF3_uc001kmn.1_Splice_Site_p.E89_splice	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor							integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGATCCCCTCCTAAAAAGGCA	0.318		NaN											0	0	0	0.012213	0	34	42				
TM9SF3	56889	broad.mit.edu	37	10	98312731	98312731	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:98312731C>T	uc001kmm.3	-	6	963	c.746G>A	c.(745-747)AGA>AAA	p.R249K	TM9SF3_uc010qot.1_Missense_Mutation_p.R249K|TM9SF3_uc001kmn.1_Missense_Mutation_p.R18K	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	249						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATAATCTTTTCTTAATGTTCT	0.299		NaN											0	0	0	0.016723	0	13	26				
PITX3	5309	broad.mit.edu	37	10	103990676	103990676	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:103990676C>T	uc001kuu.1	-	4	658	c.504G>A	c.(502-504)AAG>AAA	p.K168K		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	168					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATGGAAAGGTCTTGGCGGCGA	0.697		NaN											0	0	0	0.001168	0	4	6				
GBF1	8729	broad.mit.edu	37	10	104121532	104121532	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:104121532G>A	uc001kux.1	+	14	1786	c.1546G>A	c.(1546-1548)GAG>AAG	p.E516K	GBF1_uc001kuy.1_Missense_Mutation_p.E516K|GBF1_uc001kuz.1_Missense_Mutation_p.E517K	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	516					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GATGCCTTATGAGATGAAGGA	0.468		NaN											0	0	0	0.003954	0	26	45				
OBFC1	79991	broad.mit.edu	37	10	105657330	105657330	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:105657330C>T	uc001kxl.2	-	6	804	c.729G>A	c.(727-729)GTG>GTA	p.V243V	OBFC1_uc001kxm.2_Silent_p.V243V|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	243					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CACTGTGAATCACAGGCTGAT	0.517		NaN											0	0	0	0.010504	0	19	34				
SLK	9748	broad.mit.edu	37	10	105785423	105785423	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:105785423A>G	uc001kxo.1	+	19	3687	c.3653A>G	c.(3652-3654)CAG>CGG	p.Q1218R	SLK_uc001kxp.1_Missense_Mutation_p.Q1187R	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	1218					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCATCAACACAGAGCCGGATT	0.433		NaN											0	0	0	0.008361	0	32	26				
TACC2	10579	broad.mit.edu	37	10	123846947	123846947	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:123846947T>C	uc001lfv.2	+	4	5292	c.4932T>C	c.(4930-4932)CCT>CCC	p.P1644P	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.P1644P|TACC2_uc010qtv.1_Silent_p.P1644P	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1644						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGACTGTGCCTGAGGCCAACA	0.592		NaN											0	0	0	0.003163	0	15	19				
DMBT1	1755	broad.mit.edu	37	10	124399947	124399947	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:124399947A>T	uc001lgk.1	+	52	7053	c.6947A>T	c.(6946-6948)TAT>TTT	p.Y2316F	DMBT1_uc001lgl.1_Missense_Mutation_p.Y2306F|DMBT1_uc001lgm.1_Missense_Mutation_p.Y1688F|DMBT1_uc009xzz.1_Missense_Mutation_p.Y2315F|DMBT1_uc010qtx.1_Missense_Mutation_p.Y1036F|DMBT1_uc009yab.1_Missense_Mutation_p.Y1019F|DMBT1_uc009yac.1_Missense_Mutation_p.Y610F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2316	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTTTGACTTATGATCTAATC	0.448		NaN											0	0	0	0.00308	0	7	15				
PHRF1	57661	broad.mit.edu	37	11	608824	608824	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:608824G>A	uc001lqe.2	+	14	3499	c.3368G>A	c.(3367-3369)TGC>TAC	p.C1123Y	PHRF1_uc010qwc.1_Missense_Mutation_p.C1122Y|PHRF1_uc010qwd.1_Missense_Mutation_p.C1121Y|PHRF1_uc010qwe.1_Missense_Mutation_p.C1119Y|PHRF1_uc009ybz.1_Missense_Mutation_p.C913Y|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1123	Arg-rich.						RNA polymerase binding|zinc ion binding				0						GGAAGGGAGTGCTCCCCCACC	0.632		NaN											0	0	0	0.009096	0	4	29				
DCHS1	8642	broad.mit.edu	37	11	6643027	6643027	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:6643027T>C	uc001mem.1	-	21	10290	c.9880A>G	c.(9880-9882)ACG>GCG	p.T3294A	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	3294	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGCTCCGTGTCATCAGGT	0.667		NaN											0	0	0	0.006214	0	9	11				
DENND5A	23258	broad.mit.edu	37	11	9167352	9167352	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:9167352G>A	uc001mhl.2	-	17	3123	c.2868C>T	c.(2866-2868)TAC>TAT	p.Y956Y	DENND5A_uc001mhk.2_Silent_p.Y299Y|DENND5A_uc010rbw.1_Silent_p.Y956Y|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	956	PLAT.									liver(1)	1						TCAGAATGTGGTACGGGATCA	0.498		NaN											0	0	0	0.01441	0	179	234				
BTBD10	84280	broad.mit.edu	37	11	13410595	13410595	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:13410595G>T	uc001mkz.2	-	9	1468	c.1211C>A	c.(1210-1212)TCC>TAC	p.S404Y	BTBD10_uc010rcl.1_Missense_Mutation_p.S412Y|BTBD10_uc001mla.2_Missense_Mutation_p.S388Y|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.S356Y	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	404						nucleus					0				Epithelial(150;0.0214)		CTTCTCCCAGGACATTCGAAT	0.448		NaN											1	0	1.7489e-18	0.011902	1.87704e-18	43	105				
TPH1	7166	broad.mit.edu	37	11	18048081	18048081	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:18048081A>C	uc001mnp.2	-	6	785	c.759T>G	c.(757-759)ACT>ACG	p.T253T	TPH1_uc009yhe.2_RNA	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	253					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCACATATTGAGTGCAGTGAA	0.413		NaN											0	0	0	0.009718	0	43	50				
OR8J1	219477	broad.mit.edu	37	11	56127857	56127857	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:56127857C>T	uc010rjh.1	+	1	135	c.135C>T	c.(133-135)ATC>ATT	p.I45I		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ACCTGGGCATCATCACCCTCA	0.498		NaN											0	0	0	0.01441	0	58	81				
OR9Q1	219956	broad.mit.edu	37	11	57947216	57947216	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:57947216G>A	uc001nmj.2	+	3	616	c.300G>A	c.(298-300)CAG>CAA	p.Q100Q		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	100	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				GTGCTGCTCAGTTCTTTCTGT	0.532		NaN											0	0	0	0.01441	0	53	79				
MS4A6E	245802	broad.mit.edu	37	11	60105401	60105401	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:60105401G>A	uc001npd.2	+	2	349	c.335G>A	c.(334-336)AGA>AAA	p.R112K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	112	Extracellular (Potential).					integral to membrane	receptor activity				0						GACTGCCATAGAGCCAAAGCC	0.373		NaN											0	0	0	0.013726	0	36	56				
AHNAK	79026	broad.mit.edu	37	11	62301534	62301534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:62301534C>A	uc001ntl.2	-	5	655	c.355G>T	c.(355-357)GAG>TAG	p.E119*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	119					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGGTACTCCTCATCATCCCCG	0.602		NaN											1	0	3.86212e-05	0.008291	3.96452e-05	11	22				
TAF6L	10629	broad.mit.edu	37	11	62553845	62553845	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:62553845C>T	uc001nvc.2	+	10	1175	c.1074C>T	c.(1072-1074)GTC>GTT	p.V358V	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	358					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						GACACAAAGTCTATGGAGCCA	0.512		NaN									OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005443	0	27	123				
MRPL48	51642	broad.mit.edu	37	11	73498985	73498985	+	Translation_Start_Site	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:73498985T>A	uc001ouh.3	+	1	69	c.-31T>A	c.(-33--29)GTTTG>GTATG		MRPL48_uc009ytt.2_Translation_Start_Site|MRPL48_uc010rri.1_Translation_Start_Site|MRPL48_uc009ytu.2_Translation_Start_Site	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48 precursor						translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						GGTCTTCGGTTTGCACAGCTA	0.612		NaN											0	0	0	0.016723	0	13	16				
DNAJB13	374407	broad.mit.edu	37	11	73681096	73681096	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:73681096C>T	uc001ouo.2	+	8	1639	c.888C>T	c.(886-888)ATC>ATT	p.I296I		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	296					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					TCTTCGACATCCAGTTCCCCA	0.577		NaN											0	0	0	0.007291	0	29	150				
POLD3	10714	broad.mit.edu	37	11	74323962	74323962	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:74323962T>C	uc001ovf.1	+	5	374	c.299T>C	c.(298-300)GTG>GCG	p.V100A	POLD3_uc009yua.1_5'UTR	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	100					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					AGCATCCATGTGTACAGCATC	0.453		NaN											0	0	0	0.01441	0	60	74				
TRPC6	7225	broad.mit.edu	37	11	101359784	101359784	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:101359784C>G	uc001pgk.3	-	4	1602	c.1177G>C	c.(1177-1179)GAG>CAG	p.E393Q	TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Intron	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	393	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAAAGATTCTCATACCAAATG	0.433		NaN											0	0	0	0.003954	0	25	40				
PPP2R1B	5519	broad.mit.edu	37	11	111636068	111636068	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:111636068A>G	uc001plx.1	-	2	239	c.155T>C	c.(154-156)CTA>CCA	p.L52P	PPP2R1B_uc001plw.1_Missense_Mutation_p.L52P|PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.L52P|PPP2R1B_uc010rwl.1_Missense_Mutation_p.L52P	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	52	HEAT 1.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCCAAGTGCTAGGGCAATTGT	0.363		NaN											0	0	0	0.01441	0	48	92				
FDXACB1	91893	broad.mit.edu	37	11	111749797	111749797	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:111749797C>T	uc001pmc.3	-	1	357	c.60G>A	c.(58-60)CTG>CTA	p.L20L	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_5'UTR|C11orf1_uc001pmd.2_5'Flank|C11orf1_uc001pme.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	20					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						GGGTTTCGCTCAGAGCGGCGG	0.667		NaN									OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	34				
MLL	4297	broad.mit.edu	37	11	118374637	118374637	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:118374637C>G	uc001pta.2	+	27	8044	c.8021C>G	c.(8020-8022)TCA>TGA	p.S2674*	MLL_uc001ptb.2_Nonsense_Mutation_p.S2677*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2674					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTAAGCACTTCAGATGAAGAC	0.463		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.004656	0	26	37		Valid		
B4GALNT3	283358	broad.mit.edu	37	12	569632	569632	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:569632C>A	uc001qii.1	+	1	90	c.90C>A	c.(88-90)GCC>GCA	p.A30A		NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	30	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGCGCTCGCCGTGGTGTCTG	0.542		NaN											1	0	0.000602214	0.014758	0.000611236	3	5				
DYRK4	8798	broad.mit.edu	37	12	4702231	4702231	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:4702231C>T	uc001qmx.2	+	4	342	c.182C>T	c.(181-183)GCG>GTG	p.A61V	DYRK4_uc009zeh.1_Missense_Mutation_p.A176V|DYRK4_uc001qmy.1_Missense_Mutation_p.A61V	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	61						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			CTGGGCTACGCGGAGCTGTGG	0.458		NaN											0	0	0	0.007291	0	29	101				
NCAPD2	9918	broad.mit.edu	37	12	6637881	6637881	+	Silent	SNP	G	G	A	rs149244253	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:6637881G>A	uc001qoo.2	+	26	3382	c.3336G>A	c.(3334-3336)GCG>GCA	p.A1112A	NCAPD2_uc010sfd.1_Silent_p.A1067A	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1112					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GGAAAACAGCGGGGCTGGTGA	0.597		NaN											0	0	0	0.00308	0	8	68				
PTPN6	5777	broad.mit.edu	37	12	7064630	7064630	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:7064630C>T	uc001qsb.2	+	6	971	c.729C>T	c.(727-729)GGC>GGT	p.G243G	PTPN6_uc001qsa.1_Silent_p.G245G|PTPN6_uc010sfr.1_Silent_p.G204G|PTPN6_uc009zfl.1_Silent_p.G243G|PTPN6_uc010sfs.1_Silent_p.G231G	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	243					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						CCAAGGCTGGCTTCTGGGAGG	0.632		NaN											0	0	0	0.006122	0	19	109				
C12orf36	283422	broad.mit.edu	37	12	13526188	13526188	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:13526188C>G	uc001rbs.1	-	3	585	c.367G>C	c.(367-369)GAG>CAG	p.E123Q		NM_182558	NP_872364			hypothetical protein LOC283422												0				BRCA - Breast invasive adenocarcinoma(232;0.198)		ACATCTTCCTCAATTTTCTGC	0.408		NaN											0	0	0	0.013726	0	30	95				
C12orf77	196415	broad.mit.edu	37	12	25149195	25149195	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:25149195G>C	uc001rgf.2	-	2	287	c.82C>G	c.(82-84)CAA>GAA	p.Q28E		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	hypothetical protein LOC196415	28											0						TCCAGAATTTGAATATTATTT	0.443		NaN											0	0	0	0.00245	0	14	71				
TMTC1	83857	broad.mit.edu	37	12	29786270	29786270	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:29786270C>A	uc001rjb.2	-	6	1089	c.615_splice	c.e6-1	p.R205_splice	TMTC1_uc001riz.2_Splice_Site|TMTC1_uc001rja.2_Splice_Site_p.R49_splice|TMTC1_uc001rjc.1_Splice_Site_p.R267_splice	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat							integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGTGAGGAATCTATAAAGAGA	0.443		NaN											1	0	1.96292e-10	0.010504	2.06183e-10	22	35				
LRRK2	120892	broad.mit.edu	37	12	40687375	40687375	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:40687375G>C	uc001rmg.3	+	21	2839	c.2718G>C	c.(2716-2718)AAG>AAC	p.K906N	LRRK2_uc001rmh.1_Missense_Mutation_p.K528N|LRRK2_uc009zjw.2_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	906					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGTGAAAAAGAAATCTAATT	0.323		NaN											0	0	0	0.003163	0	15	12				
LRRK2	120892	broad.mit.edu	37	12	40728880	40728880	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:40728880C>T	uc001rmg.3	+	40	5990	c.5869C>T	c.(5869-5871)CGC>TGC	p.R1957C	LRRK2_uc009zjw.2_Missense_Mutation_p.R795C|LRRK2_uc001rmi.2_Missense_Mutation_p.R790C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1957	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.R1957C(1)|p.R1964C(1)		ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCCTTGGATCGCCTGCTTCA	0.527		NaN											0	0	0	0.00499	0	16	53				
CNTN1	1272	broad.mit.edu	37	12	41337465	41337465	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:41337465T>C	uc001rmm.1	+	13	1559	c.1446T>C	c.(1444-1446)TAT>TAC	p.Y482Y	CNTN1_uc009zjy.1_Silent_p.Y482Y|CNTN1_uc001rmn.1_Silent_p.Y471Y|CNTN1_uc001rmo.2_Silent_p.Y482Y	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	482	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGGTATCTATACATGCTTTG	0.333		NaN											0	0	0	0.012319	0	18	55				
SLC38A2	54407	broad.mit.edu	37	12	46757568	46757568	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:46757568A>C	uc001rpg.2	-	12	1435	c.995T>G	c.(994-996)TTT>TGT	p.F332C	SLC38A2_uc010sli.1_Missense_Mutation_p.F170C|SLC38A2_uc001rph.2_Missense_Mutation_p.F232C	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	332	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CATAGCAAAAAATGAAATCTT	0.343		NaN											0	0	0	0.01892	0	25	28				
C1QL4	338761	broad.mit.edu	37	12	49726986	49726986	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:49726986C>G	uc001rtz.1	-	2	1279	c.568G>C	c.(568-570)GAC>CAC	p.D190H		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	190	C1q.					collagen					0						TAGTTCTGGTCCGCGTCCTGA	0.637		NaN											0	0	0	0.013537	0	11	24				
LIMA1	51474	broad.mit.edu	37	12	50571654	50571654	+	Silent	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:50571654T>A	uc001rwj.3	-	11	1647	c.1473A>T	c.(1471-1473)CCA>CCT	p.P491P	LIMA1_uc001rwg.3_Silent_p.P189P|LIMA1_uc001rwh.3_Silent_p.P330P|LIMA1_uc001rwi.3_Silent_p.P332P|LIMA1_uc001rwk.3_Silent_p.P492P|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	491				P -> Q (in Ref. 2; AAF67491).	actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						CTTCTACCCCTGGGCTGTGAG	0.522		NaN											0	0	0	0.013726	0	33	107				
DIP2B	57609	broad.mit.edu	37	12	51065124	51065124	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:51065124G>A	uc001rwv.2	+	5	739	c.583G>A	c.(583-585)GGA>AGA	p.G195R	DIP2B_uc001rwu.2_Missense_Mutation_p.G195R|DIP2B_uc009zls.1_Missense_Mutation_p.G77R	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	195	Ser-rich.					nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						GCTGTCCCACGGAGAGGTCAA	0.483		NaN											0	0	0	0.01441	0	60	43				
SCN8A	6334	broad.mit.edu	37	12	52115497	52115497	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:52115497C>G	uc001ryw.2	+	12	1981	c.1803C>G	c.(1801-1803)CTC>CTG	p.L601L	SCN8A_uc010snl.1_Silent_p.L466L|SCN8A_uc001ryx.1_Silent_p.L466L|SCN8A_uc001ryz.1_Silent_p.L466L|SCN8A_uc001ryy.2_Silent_p.L466L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	601					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGACTCCCTCTTCATCCCCA	0.622		NaN											0	0	0	0.014758	0	5	11				
PA2G4	5036	broad.mit.edu	37	12	56500804	56500804	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:56500804A>G	uc001sjm.2	+	3	667	c.248A>G	c.(247-249)AAT>AGT	p.N83S	PA2G4_uc009zol.2_Missense_Mutation_p.N83S|PA2G4_uc009zom.2_Missense_Mutation_p.N83S	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	83					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			ATTTCGGTAAATAACTGTGTA	0.428		NaN											0	0	0	0.00632	0	29	69				
PIP4K2C	79837	broad.mit.edu	37	12	57992965	57992965	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:57992965C>T	uc001sou.2	+	5	762	c.631C>T	c.(631-633)CTT>TTT	p.L211F	PIP4K2C_uc001sot.2_Missense_Mutation_p.L211F|PIP4K2C_uc010srs.1_Missense_Mutation_p.L193F|PIP4K2C_uc010srt.1_Missense_Mutation_p.L163F	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	211	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					TAGCCACCGTCTTCCTGTGCA	0.537		NaN											0	0	0	0.006122	0	18	36				
SLC16A7	9194	broad.mit.edu	37	12	60168667	60168667	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:60168667C>G	uc001sqs.2	+	5	890	c.591C>G	c.(589-591)CCC>CCG	p.P197P	SLC16A7_uc001sqt.2_Silent_p.P197P|SLC16A7_uc001squ.2_Silent_p.P197P|SLC16A7_uc009zqi.2_Silent_p.P98P|SLC16A7_uc010ssi.1_Silent_p.P98P	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	197	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TCATGAGACCCCTTGGACCCA	0.403		NaN											0	0	0	0.008361	0	30	18				
GRIP1	23426	broad.mit.edu	37	12	66932910	66932910	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:66932910C>G	uc001stk.2	-	4	607	c.366G>C	c.(364-366)AAG>AAC	p.K122N	GRIP1_uc010sta.1_Missense_Mutation_p.K66N|GRIP1_uc001stl.1_Missense_Mutation_p.K66N|GRIP1_uc001stm.2_Missense_Mutation_p.K122N	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	122	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTCCCACATTCTTCAGCAAGC	0.378		NaN											0	0	0	0.004482	0	6	117				
NTN4	59277	broad.mit.edu	37	12	96077360	96077360	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:96077360C>T	uc001tei.2	-	6	1757	c.1308G>A	c.(1306-1308)GTG>GTA	p.V436V	NTN4_uc009ztf.2_Silent_p.V436V|NTN4_uc009ztg.2_Silent_p.V399V	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	netrin 4 precursor	436	Laminin EGF-like 3.				axon guidance	basement membrane|plasma membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CCCAGTATCCCACCATGCACC	0.597		NaN											0	0	0	0.013537	0	12	30				
C12orf63	374467	broad.mit.edu	37	12	97114276	97114276	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:97114276G>C	uc001tet.1	+	17	2251	c.2173G>C	c.(2173-2175)GAG>CAG	p.E725Q		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	725										skin(6)|ovary(1)	7						TGGCGAGCTGGAGATTGTGGT	0.587		NaN											0	0	0	0.014758	0	5	10				
ANKS1B	56899	broad.mit.edu	37	12	100377945	100377945	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:100377945G>T	uc001tge.1	-	1	488	c.71C>A	c.(70-72)TCT>TAT	p.S24Y	ANKS1B_uc001tgf.1_Translation_Start_Site|ANKS1B_uc009ztt.1_Missense_Mutation_p.S24Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	24	ANK 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTCCTGCCAGACAGGAGTTT	0.612		NaN											1	0	0.000602214	0.014758	0.000611236	5	16				
UTP20	27340	broad.mit.edu	37	12	101685532	101685532	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:101685532G>A	uc001tia.1	+	9	1060	c.904G>A	c.(904-906)GAT>AAT	p.D302N		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	302					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						ATCGCTCTTGGATCTACACAC	0.328		NaN											0	0	0	0.006214	0	8	20				
UBE3B	89910	broad.mit.edu	37	12	109935699	109935699	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:109935699G>A	uc001top.2	+	10	1393	c.790G>A	c.(790-792)GTG>ATG	p.V264M	UBE3B_uc001toq.2_Missense_Mutation_p.V264M|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.V264M	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	264					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GCCTGCTCTGGTGACTCATCT	0.468		NaN											0	0	0	0.014323	0	23	46				
IFT81	28981	broad.mit.edu	37	12	110643430	110643430	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:110643430G>C	uc001tqi.2	+	17	1877	c.1747G>C	c.(1747-1749)GAT>CAT	p.D583H	IFT81_uc001tqh.2_Missense_Mutation_p.D583H|IFT81_uc001tqj.2_RNA	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	583	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						TCGTGCTACTGATGAGATGAA	0.313		NaN											0	0	0	0.009535	0	32	75				
RAD9B	144715	broad.mit.edu	37	12	110956514	110956514	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:110956514T>C	uc001trf.3	+	7	767	c.629T>C	c.(628-630)GTT>GCT	p.V210A	RAD9B_uc001trg.3_Missense_Mutation_p.V210A|RAD9B_uc010sya.1_Missense_Mutation_p.V141A|RAD9B_uc001tre.3_Missense_Mutation_p.V138A|RAD9B_uc001trd.3_Missense_Mutation_p.V52A	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B	207					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			pancreas(1)|skin(1)	2						GAGATGTTTGTTGGCTCAGAT	0.289		NaN											0	0	0	0.006214	0	10	23				
RNF10	9921	broad.mit.edu	37	12	120995374	120995374	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:120995374T>C	uc001typ.3	+	6	1339	c.856T>C	c.(856-858)TAT>CAT	p.Y286H	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.Y192H	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	286					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCACATCAGTATGTTGTTGG	0.448		NaN											0	0	0	0.005524	0	38	77				
TMEM120B	144404	broad.mit.edu	37	12	122213008	122213008	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:122213008C>G	uc001ubc.3	+	11	1022	c.878C>G	c.(877-879)TCC>TGC	p.S293C	TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	293						integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TTTGAGCTCTCCAGCCACGAG	0.517		NaN											0	0	0	0.016723	0	12	14				
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:122812709C>T	uc001ucg.1	-	16	3140	c.3034G>A	c.(3034-3036)GAA>AAA	p.E1012K	CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1012	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493		NaN											0	0	0	0.00874	0	17	120				
MPHOSPH9	10198	broad.mit.edu	37	12	123645694	123645694	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645694C>G	uc001uel.2	-	18	3021	c.2914G>C	c.(2914-2916)GAA>CAA	p.E972Q	MPHOSPH9_uc010tal.1_Missense_Mutation_p.E426Q|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E426Q	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	972	Potential.				M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGGTCCTTTTCTTTTGTAAGT	0.343		NaN											0	0	0	0.004007	0	16	34				
MPHOSPH9	10198	broad.mit.edu	37	12	123645916	123645916	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645916C>T	uc001uel.2	-	18	2799	c.2692G>A	c.(2692-2694)GAG>AAG	p.E898K	MPHOSPH9_uc010tal.1_Missense_Mutation_p.E352K|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E352K	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	898					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTGGCTTTCTCAGAATAAGTT	0.373		NaN											0	0	0	0.004656	0	24	69				
MPHOSPH9	10198	broad.mit.edu	37	12	123645931	123645931	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645931C>G	uc001uel.2	-	18	2785	c.2678_splice	c.e18-1	p.E893_splice	MPHOSPH9_uc010tal.1_Splice_Site_p.E347_splice|MPHOSPH9_uc010tam.1_Splice_Site|MPHOSPH9_uc001uem.2_Splice_Site_p.E347_splice	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9						M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TAAGTTTTTTCTGTCAGAGAG	0.368		NaN											0	0	0	0.003954	0	23	61				
CENPJ	55835	broad.mit.edu	37	13	25484207	25484207	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:25484207C>T	uc001upt.3	-	4	839	c.586G>A	c.(586-588)GAT>AAT	p.D196N	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	196					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTGATCATCAGGCAGTAAA	0.478		NaN											0	0	0	0.01441	0	50	59				
LPAR6	10161	broad.mit.edu	37	13	48985570	48985570	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:48985570T>C	uc010acu.2	-	1	2084	c.990A>G	c.(988-990)CTA>CTG	p.L330L	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.L330L|LPAR6_uc001vcf.2_Silent_p.L330L	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	330	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						TTAAGGTCTGTAGGTTATGCT	0.358		NaN											0	0	0	0.01441	0	66	22				
PCDH9	5101	broad.mit.edu	37	13	67799881	67799881	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:67799881C>T	uc001vik.2	-	2	3384	c.2692G>A	c.(2692-2694)GAA>AAA	p.E898K	PCDH9_uc001vil.2_Missense_Mutation_p.E898K|PCDH9_uc010thl.1_Missense_Mutation_p.E898K|PCDH9_uc001vin.3_Missense_Mutation_p.E898K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	898	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGATAGGTTCATGAACTGCA	0.438		NaN											0	0	0	0.01441	0	82	113				
PCDH9	5101	broad.mit.edu	37	13	67800603	67800603	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:67800603G>C	uc001vik.2	-	2	2662	c.1970C>G	c.(1969-1971)TCT>TGT	p.S657C	PCDH9_uc001vil.2_Missense_Mutation_p.S657C|PCDH9_uc010thl.1_Missense_Mutation_p.S657C|PCDH9_uc001vin.3_Missense_Mutation_p.S657C	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	657	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTTGCAGTAGAGGAACGAGG	0.438		NaN											0	0	0	0.006999	0	41	137				
SLITRK1	114798	broad.mit.edu	37	13	84455102	84455102	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:84455102G>A	uc001vlk.2	-	1	1427	c.541C>T	c.(541-543)CAC>TAC	p.H181Y		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	181	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGGTCGAGGTGGGTGATGGGC	0.537		NaN											0	0	0	0.01441	0	55	97				
GPC5	2262	broad.mit.edu	37	13	92345689	92345689	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:92345689G>A	uc010tif.1	+	3	940	c.574G>A	c.(574-576)GAA>AAA	p.E192K		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	192						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGAATACTCAGAATGCATCCG	0.483		NaN											0	0	0	0.01441	0	57	111				
FARP1	10160	broad.mit.edu	37	13	99083499	99083499	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:99083499A>C	uc001vnj.2	+	18	2444	c.2108A>C	c.(2107-2109)CAC>CCC	p.H703P	FARP1_uc001vnh.2_Missense_Mutation_p.H703P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	703	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCAAACACCACCCGCCGAGC	0.647		NaN											0	0	0	0.006214	0	4	10				
ZIC2	7546	broad.mit.edu	37	13	100634397	100634397	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:100634397G>A	uc001von.2	+	1	79	c.79G>A	c.(79-81)GCG>ACG	p.A27T		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	27	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTccgccgcggcggcggcggc	0.612		NaN											0	0	0	0.014758	0	4	4				
MYO16	23026	broad.mit.edu	37	13	109858981	109858981	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:109858981G>C	uc001vqt.1	+	35	5500	c.5374G>C	c.(5374-5376)GAG>CAG	p.E1792Q	MYO16_uc010agk.1_Missense_Mutation_p.E1814Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1792					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAGGCTCTCAGAGAATGAAAG	0.512		NaN											0	0	0	0.00499	0	18	100				
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:110434606T>G	uc001vqv.2	-	1	4309	c.3795A>C	c.(3793-3795)CCA>CCC	p.P1265P		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.512		NaN											0	0	0	0.007413	0	11	24				
ARHGAP5	394	broad.mit.edu	37	14	32562753	32562753	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:32562753C>G	uc001wrl.2	+	2	3117	c.2878C>G	c.(2878-2880)CAA>GAA	p.Q960E	ARHGAP5_uc001wrm.2_Missense_Mutation_p.Q960E|ARHGAP5_uc001wrn.2_Missense_Mutation_p.Q960E|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	960					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAACCCATCAAAGTGAAGA	0.358		NaN											0	0	0	0.01441	0	53	44				
INSM2	84684	broad.mit.edu	37	14	36004326	36004326	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:36004326G>C	uc001wth.1	+	1	1079	c.868G>C	c.(868-870)GAG>CAG	p.E290Q		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CGTGCGCGTAGAGTACCGCTG	0.672		NaN											0	0	0	0.010504	0	21	27				
KLHL28	54813	broad.mit.edu	37	14	45414407	45414407	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:45414407T>C	uc001wvq.2	-	2	971	c.725A>G	c.(724-726)CAT>CGT	p.H242R	KLHL28_uc001wvr.2_Missense_Mutation_p.H242R|KLHL28_uc001wvt.3_Missense_Mutation_p.H242R	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	242										ovary(1)	1						ACGAATAAGATGATTTGCTTC	0.373		NaN											0	0	0	0.016522	0	24	66				
HSPA2	3306	broad.mit.edu	37	14	65008896	65008896	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:65008896G>A	uc001xhj.2	+	2	1405	c.1329G>A	c.(1327-1329)GTG>GTA	p.V443V	HSPA2_uc001xhk.3_Silent_p.V443V	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	443					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCGTACTGGTGCAGGTATACG	0.607		NaN											0	0	0	0.013537	0	13	82				
PLEKHG3	26030	broad.mit.edu	37	14	65197646	65197646	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:65197646C>G	uc001xho.1	+	6	965	c.696C>G	c.(694-696)CTC>CTG	p.L232L	PLEKHG3_uc001xhn.1_Silent_p.L176L|PLEKHG3_uc001xhp.2_Silent_p.L232L|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	232	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCGCATCCTCAAGTACCACC	0.642		NaN											0	0	0	0.010504	0	21	66				
MPP5	64398	broad.mit.edu	37	14	67787792	67787792	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:67787792G>A	uc001xjc.2	+	13	2022	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	MPP5_uc001xjd.2_Missense_Mutation_p.R485Q|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	519	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CGGAGTAGGCGAGACCAAGAA	0.448		NaN											0	0	0	0.00623	0	39	71				
GOLGA5	9950	broad.mit.edu	37	14	93273263	93273263	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:93273263C>G	uc001yaz.1	+	3	909	c.727C>G	c.(727-729)CAA>GAA	p.Q243E		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	243	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GTCTTTAAATCAAGAAATGGC	0.378		NaN	T	RET	papillary thyroid								0	0	0	0.016723	0	14	70				
KIAA1409	57578	broad.mit.edu	37	14	94156520	94156520	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:94156520G>A	uc001ybv.1	+	44	6878	c.6795G>A	c.(6793-6795)CTG>CTA	p.L2265L	KIAA1409_uc001ybs.1_Silent_p.L2243L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2420						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GGCTGCTGCTGGGTTCCCTCA	0.473		NaN											0	0	0	0.006999	0	41	63				
DDX24	57062	broad.mit.edu	37	14	94528602	94528602	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:94528602C>T	uc001ycj.2	-	3	1183	c.1084G>A	c.(1084-1086)GAT>AAT	p.D362N	DDX24_uc010twq.1_Missense_Mutation_p.D319N|DDX24_uc010twr.1_Missense_Mutation_p.D112N	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	362	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGCTCTTTATCAAGATTTTCC	0.483		NaN											0	0	0	0.01441	0	50	105				
EML1	2009	broad.mit.edu	37	14	100380990	100380990	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:100380990T>C	uc001ygs.2	+	15	1777	c.1708T>C	c.(1708-1710)TGG>CGG	p.W570R	EML1_uc010tww.1_Missense_Mutation_p.W558R|EML1_uc001ygr.2_Missense_Mutation_p.W589R	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	570	WD 6.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCCACTCTCTGGGACGCTGT	0.463		NaN											0	0	0	0.00499	0	18	36				
CDC42BPB	9578	broad.mit.edu	37	14	103465928	103465928	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:103465928G>A	uc001ymi.1	-	5	802	c.570C>T	c.(568-570)TCC>TCT	p.S190S		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	190	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCTGATGGATGGAGTCAATGG	0.448		NaN											0	0	0	0.01441	0	54	85				
XRCC3	7517	broad.mit.edu	37	14	104165252	104165252	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:104165252G>A	uc001yny.3	-	10	1304	c.924C>T	c.(922-924)CTC>CTT	p.L308L	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.L308L|XRCC3_uc001ynz.3_Silent_p.L308L|XRCC3_uc001yoa.3_Silent_p.L308L	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	308					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTGGGCAGCCGAGGGCAGCCT	0.672		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.001984	0	7	5				
KIAA0284	283638	broad.mit.edu	37	14	105360120	105360120	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105360120T>C	uc010axb.2	+	16	4429	c.4205T>C	c.(4204-4206)CTG>CCG	p.L1402P	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.L1332P|KIAA0284_uc001yps.2_Missense_Mutation_p.L1343P|KIAA0284_uc001ypt.2_Missense_Mutation_p.L70P	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1437						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AACCTGATGCTGAACCCGGTG	0.657		NaN											0	0	0	0.006214	0	10	12				
CDCA4	55038	broad.mit.edu	37	14	105477759	105477759	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105477759C>G	uc001yqa.2	-	2	604	c.508G>C	c.(508-510)GAG>CAG	p.E170Q	CDCA4_uc001yqb.2_Missense_Mutation_p.E170Q	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	170						nucleus				ovary(1)	1		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TTTTTAGTCTCCAGCGTTTCA	0.547		NaN											0	0	0	0.004482	0	7	70				
BRF1	2972	broad.mit.edu	37	14	105685546	105685546	+	Silent	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105685546G>C	uc001yqp.2	-	13	1764	c.1401C>G	c.(1399-1401)GCC>GCG	p.A467A	BRF1_uc010tyo.1_Silent_p.A352A|BRF1_uc010typ.1_Silent_p.A374A|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Silent_p.A263A|BRF1_uc001yqo.2_Silent_p.A229A|BRF1_uc010axg.1_Silent_p.A440A|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	467					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCTTCACGCGGGCTTCCGACT	0.647		NaN											0	0	0	0.015359	0	32	57				
APBA2	321	broad.mit.edu	37	15	29400577	29400577	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:29400577C>T	uc001zck.2	+	12	2229	c.2022C>T	c.(2020-2022)AGC>AGT	p.S674S	APBA2_uc010azj.2_Silent_p.S662S|APBA2_uc010uat.1_Silent_p.S662S|APBA2_uc001zcl.2_Silent_p.S662S	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	674	PDZ 2.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGGCTTCAGCGTGCAGAATG	0.607		NaN											0	0	0	0.00632	0	27	90				
FSIP1	161835	broad.mit.edu	37	15	39910077	39910077	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:39910077C>T	uc001zki.2	-	11	1776	c.1558G>A	c.(1558-1560)GAC>AAC	p.D520N		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	520										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATAAAATAGTCTTTTGTGTCA	0.408		NaN											0	0	0	0.01441	0	55	52				
EIF2AK4	440275	broad.mit.edu	37	15	40268620	40268620	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:40268620G>A	uc001zkm.1	+	12	1874	c.1824G>A	c.(1822-1824)CAG>CAA	p.Q608Q	EIF2AK4_uc010bbj.1_Silent_p.Q337Q	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	608	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CGCAGGTGCAGAACAAGTTGG	0.617		NaN											0	0	0	0.012319	0	22	20				
INO80	54617	broad.mit.edu	37	15	41319809	41319809	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:41319809A>G	uc001zni.2	-	25	3246	c.3033T>C	c.(3031-3033)TGT>TGC	p.C1011C	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1011	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						GACTGGCCACACACAAAAAAG	0.473		NaN											0	0	0	0.016723	0	13	37				
MGA	23269	broad.mit.edu	37	15	42003336	42003336	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:42003336C>G	uc001zog.1	+	8	2964	c.2873C>G	c.(2872-2874)ACT>AGT	p.T958S	MGA_uc010ucy.1_Missense_Mutation_p.T958S|MGA_uc010ucz.1_Missense_Mutation_p.T958S	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	958						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTTGTGCCAACTTTGGATGAA	0.433		NaN											0	0	0	0.004656	0	25	101				
PLA2G4D	283748	broad.mit.edu	37	15	42374548	42374548	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:42374548C>T	uc001zox.2	-	9	807	c.712G>A	c.(712-714)GGG>AGG	p.G238R		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	238					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GTGAGGTACCCAGCTGAGTTG	0.448		NaN											0	0	0	0.007413	0	17	47				
ELL3	80237	broad.mit.edu	37	15	44067580	44067580	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:44067580C>T	uc001zsw.1	-	6	973	c.570_splice	c.e6-1	p.R190_splice	ELL3_uc001zsv.1_Splice_Site_p.R144_splice|ELL3_uc001zsx.1_Splice_Site_p.R75_splice|uc001zsy.2_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3						positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				ovary(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGTCTGGCTTCTAGGATATTT	0.458		NaN									OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003163	0	15	18				
SEMA6D	80031	broad.mit.edu	37	15	48063558	48063558	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:48063558C>T	uc010bek.2	+	19	3158	c.2798C>T	c.(2797-2799)CCT>CTT	p.P933L	SEMA6D_uc001zvw.2_Missense_Mutation_p.P871L|SEMA6D_uc001zvy.2_Missense_Mutation_p.P933L|SEMA6D_uc001zvz.2_Missense_Mutation_p.P877L|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.P871L|SEMA6D_uc001zwc.2_Missense_Mutation_p.P858L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	933	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TACTCCCCTCCTTCAACTCTC	0.517		NaN											0	0	0	0.01441	0	48	127				
ONECUT1	3175	broad.mit.edu	37	15	53081358	53081358	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:53081358C>A	uc002aci.1	-	1	852	c.724G>T	c.(724-726)GTG>TTG	p.V242L		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	242					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TTGATGGGCACCATGCCGGCC	0.706		NaN											1	0	4.25531e-23	0.01441	4.64996e-23	54	50				
DPP8	54878	broad.mit.edu	37	15	65782623	65782623	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:65782623C>G	uc002aov.2	-	6	2356	c.778G>C	c.(778-780)GAA>CAA	p.E260Q	DPP8_uc002aow.2_Missense_Mutation_p.E260Q|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.E244Q|DPP8_uc002aoy.2_Missense_Mutation_p.E260Q|DPP8_uc002aoz.2_Missense_Mutation_p.E244Q|DPP8_uc010bhj.2_Missense_Mutation_p.E260Q|DPP8_uc002apa.2_Missense_Mutation_p.E157Q|DPP8_uc010bhk.1_Missense_Mutation_p.E2Q	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	260					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						GCATCTTCTTCCATGTTGGCT	0.353		NaN											0	0	0	0.008291	0	11	54				
DIS3L	115752	broad.mit.edu	37	15	66587330	66587330	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:66587330G>A	uc010ujm.1	+	2	159	c.144G>A	c.(142-144)GGG>GGA	p.G48G	DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_5'UTR|DIS3L_uc002apq.2_Silent_p.G48G|DIS3L_uc010bho.2_5'UTR	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	48					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						TTTCAGATGGGAAACTCTTGT	0.368		NaN											0	0	0	0.016723	0	14	25				
DIS3L	115752	broad.mit.edu	37	15	66587451	66587451	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:66587451C>G	uc010ujm.1	+	2	280	c.265C>G	c.(265-267)CAA>GAA	p.Q89E	DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.Q6E|DIS3L_uc002apq.2_Missense_Mutation_p.Q89E|DIS3L_uc010bho.2_5'UTR	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	89					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						GACAGCTTGTCAAGCTGTGCA	0.433		NaN											0	0	0	0.007291	0	28	68				
HCN4	10021	broad.mit.edu	37	15	73615332	73615332	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:73615332G>A	uc002avp.2	-	8	4096	c.3102C>T	c.(3100-3102)CCC>CCT	p.P1034P		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1034	Pro-rich.|Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		AGGTTCTTGGGGGGCCTGGGC	0.721		NaN											0	0	0	0.004672	0	3	3				
ARID3B	10620	broad.mit.edu	37	15	74836783	74836783	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:74836783C>T	uc002aye.2	+	2	707	c.506C>T	c.(505-507)TCC>TTC	p.S169F	ARID3B_uc002ayc.2_Missense_Mutation_p.S169F|ARID3B_uc002ayd.2_Missense_Mutation_p.S169F	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CCTTCTGTCTCCACAGCAGGA	0.522		NaN											0	0	0	0.013537	0	11	30				
C15orf39	56905	broad.mit.edu	37	15	75498410	75498410	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:75498410G>A	uc002azp.3	+	2	341	c.21G>A	c.(19-21)CTG>CTA	p.L7L	C15orf39_uc002azq.3_Silent_p.L7L|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	7											0						AGCGACCCCTGAGAACCCTGG	0.602		NaN											0	0	0	0.008291	0	11	8				
ADAMTSL3	57188	broad.mit.edu	37	15	84539658	84539658	+	Missense_Mutation	SNP	G	G	A	rs139499552	by1000genomes	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:84539658G>A	uc002bjz.3	+	9	1131	c.907G>A	c.(907-909)GAG>AAG	p.E303K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E303K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E303K	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	303						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGGGCTCCGAGAGGCAAAC	0.438		NaN											0	0	0	0.01441	0	55	42				
HBA2	3040	broad.mit.edu	37	16	227392	227392	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:227392G>A	uc002cfw.2	+	3	477	c.411G>A	c.(409-411)CTG>CTA	p.L137L	HBA1_uc002cfx.1_Silent_p.L137L|HBA1_uc002cfy.1_Silent_p.L105L|HBQ1_uc002cfz.2_5'Flank	NM_000558	NP_000549	P69905	HBA_HUMAN	alpha 1 globin	137			L -> P (in Bibba; unstable; causes alpha- thalassemia).|L -> M (in Chicago).|L -> R (in Toyama).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding				0		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	GCACCGTGCTGACCTCCAAAT	0.672		NaN									OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.00308	0	8	10				
RHBDL1	9028	broad.mit.edu	37	16	726418	726418	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:726418C>T	uc002cis.1	+	1	344	c.317C>T	c.(316-318)CCG>CTG	p.P106L	RHBDL1_uc002cir.1_Missense_Mutation_p.P41L|RHBDL1_uc010uun.1_Missense_Mutation_p.P41L	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	106					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				CCCCTGGACCCGGCCAAGCTG	0.667		NaN											0	0	0	0.014758	0	5	4				
MAPK8IP3	23162	broad.mit.edu	37	16	1817831	1817831	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:1817831C>T	uc002cmk.2	+	28	3552	c.3432C>T	c.(3430-3432)TTC>TTT	p.F1144F	MAPK8IP3_uc002cml.2_Silent_p.F1138F|MAPK8IP3_uc010uvl.1_Silent_p.F1145F	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1144					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GTTTCTCCTTCGTACGCATCA	0.667		NaN											0	0	0	0.004672	0	3	44				
CREBBP	1387	broad.mit.edu	37	16	3807879	3807879	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:3807879C>G	uc002cvv.2	-	18	3744	c.3540G>C	c.(3538-3540)AAG>AAC	p.K1180N	CREBBP_uc002cvw.2_Missense_Mutation_p.K1142N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1180					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTCTGCAAGCTTACTGCAAA	0.473		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.016522	0	24	18		Valid		
GRIN2A	2903	broad.mit.edu	37	16	9923389	9923389	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:9923389A>G	uc002czo.3	-	9	2446	c.1898T>C	c.(1897-1899)GTA>GCA	p.V633A	GRIN2A_uc010uym.1_Missense_Mutation_p.V633A|GRIN2A_uc010uyn.1_Missense_Mutation_p.V476A|GRIN2A_uc002czr.3_Missense_Mutation_p.V633A	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	633	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGGCCCATACAGATACCAT	0.493		NaN											0	0	0	0.010771	0	46	16				
CLEC16A	23274	broad.mit.edu	37	16	11051690	11051690	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:11051690G>A	uc002dao.2	+	2	362	c.132G>A	c.(130-132)CGG>CGA	p.R44R	CLEC16A_uc002dan.3_Silent_p.R44R	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	44										ovary(1)|central_nervous_system(1)	2						AACAGAACCGGAACCTGCTAG	0.428		NaN											0	0	0	0.00623	0	38	26				
RBBP6	5930	broad.mit.edu	37	16	24578652	24578652	+	Missense_Mutation	SNP	C	C	T	rs144821029		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:24578652C>T	uc002dmh.2	+	15	2818	c.1778C>T	c.(1777-1779)CCA>CTA	p.P593L	RBBP6_uc010vcb.1_Missense_Mutation_p.P460L|RBBP6_uc002dmi.2_Missense_Mutation_p.P593L|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.P460L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	593					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GGCCAGCCACCACCCGCTGGG	0.299		NaN											0	0	0	0.01441	0	145	65				
NSMCE1	197370	broad.mit.edu	37	16	27246541	27246541	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:27246541C>T	uc002doi.1	-	3	314	c.216G>A	c.(214-216)AAG>AAA	p.K72K	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	72					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0						TGACTCCTCTCTTTATCTCAA	0.478		NaN									OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.012213	0	34	15				
ZNF423	23090	broad.mit.edu	37	16	49672418	49672418	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:49672418G>A	uc002efs.2	-	5	943	c.645C>T	c.(643-645)ACC>ACT	p.T215T	ZNF423_uc010vgn.1_Silent_p.T98T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	215	C2H2-type 4.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGGAGCTGTGGGTCTTCAGGT	0.592		NaN											0	0	0	0.01892	0	24	7				
SLC12A3	6559	broad.mit.edu	37	16	56906306	56906306	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:56906306A>G	uc010ccm.2	+	7	925	c.896A>G	c.(895-897)AAC>AGC	p.N299S	SLC12A3_uc002ekd.3_Missense_Mutation_p.N299S|SLC12A3_uc010ccn.2_Missense_Mutation_p.N298S	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	299	Helical; (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTTTGCCAACTATTTAGTG	0.557		NaN											0	0	0	0.00499	0	16	10				
CNGB1	1258	broad.mit.edu	37	16	57949211	57949211	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:57949211T>C	uc002emt.2	-	23	2311	c.2246A>G	c.(2245-2247)GAT>GGT	p.D749G	CNGB1_uc010cdh.2_Missense_Mutation_p.D743G	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	749	Helical; Name=H3; (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						ATAGAGAAAATCCAAGGGCAG	0.587		NaN											0	0	0	0.004656	0	17	12				
DPEP3	64180	broad.mit.edu	37	16	68009695	68009695	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:68009695G>A	uc002evc.3	-	10	1609	c.1515C>T	c.(1513-1515)ATC>ATT	p.I505I	DPEP3_uc010cex.2_Silent_p.I504I	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	480					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TGAAGGTTGGGATGGTGGCAG	0.582		NaN											0	0	0	0.010729	0	12	3				
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:89789220G>A	uc002fos.3	+	2	584	c.487G>A	c.(487-489)GGT>AGT	p.G163S	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88S|ZNF276_uc002foq.3_Missense_Mutation_p.G88S|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592		NaN											0	0	0	0.007291	0	31	23				
DEF8	54849	broad.mit.edu	37	16	90015915	90015915	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:90015915G>A	uc002fpn.1	+	2	131	c.42G>A	c.(40-42)GCG>GCA	p.A14A	DEF8_uc002fpl.2_5'UTR|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_5'UTR|DEF8_uc002fpp.1_5'UTR|DEF8_uc010vpq.1_5'UTR|DEF8_uc010vpr.1_5'UTR	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	14					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCTGGCAGGCGATGCAGGTAT	0.662		NaN											0	0	0	0.012319	0	21	24				
PFN1	5216	broad.mit.edu	37	17	4849962	4849962	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:4849962C>T	uc002gaa.2	-	2	422	c.286G>A	c.(286-288)GCC>ACC	p.A96T	PFN1_uc002fzz.2_Missense_Mutation_p.A60T	NM_005022	NP_005013	P07737	PROF1_HUMAN	profilin 1	96					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding				0						AAGGTGGGGGCCCCACCGGTG	0.532		NaN											0	0	0	0.016522	0	23	87				
NLRP1	22861	broad.mit.edu	37	17	5445293	5445293	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:5445293C>T	uc002gci.2	-	6	3138	c.2583G>A	c.(2581-2583)CTG>CTA	p.L861L	NLRP1_uc002gcg.1_Silent_p.L861L|NLRP1_uc002gck.2_Silent_p.L861L|NLRP1_uc002gcj.2_Silent_p.L861L|NLRP1_uc002gcl.2_Silent_p.L861L|NLRP1_uc002gch.3_Silent_p.L861L|NLRP1_uc010clh.2_Silent_p.L861L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	861					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GGTTGGCTCTCAGCCCAAAGG	0.572		NaN											0	0	0	0.001984	0	7	22				
DLG4	1742	broad.mit.edu	37	17	7094036	7094036	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7094036C>G	uc002get.3	-	22	3496	c.2295G>C	c.(2293-2295)GAG>GAC	p.E765D	DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.E662D|DLG4_uc010cly.2_Missense_Mutation_p.E719D|DLG4_uc010vto.1_Missense_Mutation_p.E762D	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	722					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2						ATCAGAGTCTCTCTCGGGCTG	0.617		NaN											0	0	0	0.013537	0	12	53				
MPDU1	9526	broad.mit.edu	37	17	7490058	7490058	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7490058C>T	uc002ghw.2	+	4	567	c.351C>T	c.(349-351)TGC>TGT	p.C117C	MPDU1_uc010vub.1_Silent_p.C38C|MPDU1_uc002ghx.2_Silent_p.C117C|MPDU1_uc010vuc.1_Intron	NM_004870	NP_004861	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	117	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)	1						TCACCATCTGCTTCCTGGTCA	0.557		NaN											0	0	0	0.014323	0	22	61				
PER1	5187	broad.mit.edu	37	17	8044493	8044493	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:8044493C>T	uc002gkd.2	-	23	4004	c.3766G>A	c.(3766-3768)GGC>AGC	p.G1256S	PER1_uc010cns.2_Missense_Mutation_p.G130S|PER1_uc010vuq.1_RNA	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	1256	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						TTGGCCCCGCCTTGGGCCTCC	0.642		NaN	T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					0	0	0	0.01441	0	57	156				
USP43	124739	broad.mit.edu	37	17	9604544	9604544	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:9604544C>G	uc010cod.2	+	11	1644	c.1644C>G	c.(1642-1644)TTC>TTG	p.F548L	USP43_uc002gma.3_Missense_Mutation_p.F237L|USP43_uc010vva.1_Missense_Mutation_p.F548L|USP43_uc010coe.2_Missense_Mutation_p.F345L|USP43_uc002gmc.3_Missense_Mutation_p.S25C	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	548					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GTTTTCAGTTCTACACCAAGG	0.657		NaN											0	0	0	0.014758	0	4	6				
TBC1D26	353149	broad.mit.edu	37	17	15641362	15641362	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:15641362G>T	uc010cov.2	+	6	500	c.250G>T	c.(250-252)GAC>TAC	p.D84Y	TBC1D26_uc010cou.1_Missense_Mutation_p.D84Y|TBC1D26_uc002gpb.3_RNA	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	84						intracellular	Rab GTPase activator activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GATGCTTGCAGACTGGACAAA	0.522		NaN											1	0	2.14674e-31	0.01441	2.36011e-31	48	49				
NOS2	4843	broad.mit.edu	37	17	26097944	26097944	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:26097944C>T	uc002gzu.2	-	15	2068	c.1804G>A	c.(1804-1806)GGA>AGA	p.G602R	NOS2_uc010crh.1_Missense_Mutation_p.G602R|NOS2_uc010wab.1_Intron	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	602	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCCACCTCTCCATTGCCAGGG	0.612		NaN											0	0	0	0.004482	0	8	14				
CORO6	84940	broad.mit.edu	37	17	27945821	27945821	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:27945821C>T	uc002hel.2	-	4	622	c.620G>A	c.(619-621)GGC>GAC	p.G207D	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	207	WD 3.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						CACCACTTGGCCTTTTCTGGG	0.597		NaN											0	0	0	0.006214	0	10	27				
NF1	4763	broad.mit.edu	37	17	29557345	29557345	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:29557345G>A	uc002hgg.2	+	23	3391	c.3058G>A	c.(3058-3060)GAA>AAA	p.E1020K	NF1_uc002hgh.2_Missense_Mutation_p.E1020K|NF1_uc010csn.1_Missense_Mutation_p.E880K|NF1_uc002hgi.1_Missense_Mutation_p.E53K	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1020					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	p.?(2)		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)		TCAATTAGTTGAAGTAATGAT	0.333		NaN	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)			0	0	0	0.013726	0	36	42		Valid		
SYNRG	11276	broad.mit.edu	37	17	35914064	35914064	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:35914064T>A	uc002hoa.2	-	14	1844	c.1761A>T	c.(1759-1761)AAA>AAT	p.K587N	SYNRG_uc010wde.1_Missense_Mutation_p.K509N|SYNRG_uc010wdf.1_Missense_Mutation_p.K509N|SYNRG_uc002hoc.2_Missense_Mutation_p.K508N|SYNRG_uc002hoe.2_Missense_Mutation_p.K509N|SYNRG_uc002hod.2_Missense_Mutation_p.K509N|SYNRG_uc010wdg.1_Missense_Mutation_p.K426N|SYNRG_uc002hob.2_Missense_Mutation_p.K587N|SYNRG_uc002hof.2_Missense_Mutation_p.K299N|SYNRG_uc010cvd.1_Missense_Mutation_p.K387N	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	587	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						AAGTTTTGTCTTTTGTTGGTG	0.408		NaN											0	0	0	0.01441	0	79	33				
FZD2	2535	broad.mit.edu	37	17	42635140	42635140	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:42635140G>A	uc002igx.1	+	1	216	c.84G>A	c.(82-84)GAG>GAA	p.E28E		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	28	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCACGGGGAGAAGGGCATCT	0.567		NaN											0	0	0	0.004007	0	15	34				
ADAM11	4185	broad.mit.edu	37	17	42853520	42853520	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:42853520G>A	uc002ihh.2	+	18	1511	c.1511G>A	c.(1510-1512)CGA>CAA	p.R504Q	ADAM11_uc010wjd.1_Missense_Mutation_p.R304Q|ADAM11_uc002ihi.2_5'Flank	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	504	Extracellular (Potential).|Disintegrin.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				GTGTCCTGCCGAGAGGCCGTG	0.697		NaN											0	0	0	0.01441	0	62	77				
KIF18B	146909	broad.mit.edu	37	17	43012728	43012728	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:43012728C>T	uc010wji.1	-	3	471	c.370G>A	c.(370-372)GGG>AGG	p.G124R	KIF18B_uc002iht.2_Missense_Mutation_p.G124R|KIF18B_uc010wjh.1_Missense_Mutation_p.G124R	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				CCGGGGTCCCCCTCCCTTCCC	0.627		NaN											0	0	0	0.00632	0	29	19				
NSF	4905	broad.mit.edu	37	17	44788430	44788430	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:44788430G>A	uc002iku.2	+	14	1676	c.1572G>A	c.(1570-1572)CTG>CTA	p.L524L	NSF_uc010wke.1_Silent_p.L430L|NSF_uc010wkf.1_Silent_p.L430L|NSF_uc010wkg.1_Silent_p.L519L	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	524					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GGGAGCTGCTGGTGCAGCAGA	0.443		NaN											0	0	0	0.008361	0	28	24				
HOXB1	3211	broad.mit.edu	37	17	46607197	46607197	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:46607197G>A	uc002ink.1	-	2	624	c.618C>T	c.(616-618)CTC>CTT	p.L206L		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	206	Homeobox.					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGTTGGTGCGGAGGCCACTGG	0.607		NaN											0	0	0	0.006999	0	38	115				
MTMR4	9110	broad.mit.edu	37	17	56582854	56582854	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:56582854C>T	uc002iwj.2	-	11	1192	c.1082G>A	c.(1081-1083)AGC>AAC	p.S361N		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	361	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGCATCTGGCTACACACAGC	0.498		NaN											0	0	0	0.010729	0	12	45				
RECQL5	9400	broad.mit.edu	37	17	73623551	73623551	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:73623551C>A	uc010dgl.2	-	20	3083	c.2927G>T	c.(2926-2928)CGG>CTG	p.R976L	RECQL5_uc010dgk.2_Missense_Mutation_p.R949L|RECQL5_uc002jot.3_Missense_Mutation_p.R172L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	976					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTCTCGCACCGGGCCCGGCC	0.632		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					1	0	4.17593e-13	0.007835	4.42062e-13	41	47				
TMC6	11322	broad.mit.edu	37	17	76122887	76122887	+	Silent	SNP	G	G	A	rs145198906		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:76122887G>A	uc002juj.1	-	1	153	c.27C>T	c.(25-27)CTC>CTT	p.L9L	TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Silent_p.L9L|TMC6_uc010dhg.1_Silent_p.L9L|TMC6_uc002jul.1_Silent_p.L9L|TMC6_uc002jum.3_5'Flank|TMC6_uc002jun.3_Silent_p.L9L|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_5'Flank|TMC6_uc010wtq.1_Silent_p.L9L	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	9	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGGACATCGAGGATGAAGG	0.667		NaN							Epidermodysplasia_Verruciformis_Familial_Clustering_of				0	0	0	0.001984	0	6	23				
NDC80	10403	broad.mit.edu	37	18	2578122	2578122	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:2578122G>A	uc002kli.2	+	5	640	c.458G>A	c.(457-459)AGA>AAA	p.R153K		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	153	Interaction with the N-terminus of CDCA1.|Nuclear localization.|Interaction with RB1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						GAGGTTCCAAGAATCTTTAAA	0.363		NaN											0	0	0	0.01441	0	61	61				
LAMA1	284217	broad.mit.edu	37	18	7013975	7013975	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:7013975T>C	uc002knm.2	-	23	3296	c.3202A>G	c.(3202-3204)AAA>GAA	p.K1068E	LAMA1_uc010wzj.1_Missense_Mutation_p.K544E	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1068	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCAAATTTTGACTTGCAC	0.572		NaN											0	0	0	0.001168	0	5	27				
CHMP1B	57132	broad.mit.edu	37	18	11852005	11852005	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:11852005C>G	uc002kqe.2	+	1	617	c.495C>G	c.(493-495)AAC>AAG	p.N165K	GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	chromatin modifying protein 1B	165					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding				0						TCGACCTCAACATGGAGCTGC	0.627		NaN											0	0	0	0.004007	0	16	15				
AFG3L2	10939	broad.mit.edu	37	18	12358835	12358835	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:12358835C>A	uc002kqz.1	-	8	973	c.860G>T	c.(859-861)GGA>GTA	p.G287V		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	287					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)	ACTGAAGAGTCCGCCCATCCC	0.547		NaN											1	0	7.07596e-05	0.006122	7.24985e-05	15	59				
RIOK3	8780	broad.mit.edu	37	18	21046190	21046190	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:21046190G>A	uc002kui.3	+	6	1254	c.637G>A	c.(637-639)GAA>AAA	p.E213K	RIOK3_uc010dls.2_Missense_Mutation_p.E213K|RIOK3_uc010xas.1_Missense_Mutation_p.E197K|RIOK3_uc010xat.1_Silent_p.Q4Q	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	213					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCTACTCAGAAGAACGTCG	0.353		NaN											0	0	0	0.010504	0	19	46				
MALT1	10892	broad.mit.edu	37	18	56390406	56390406	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:56390406C>T	uc002lhm.1	+	10	1403	c.1145C>T	c.(1144-1146)TCA>TTA	p.S382L	MALT1_uc002lhn.1_Missense_Mutation_p.S371L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	382	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	p.S371L(1)		ovary(2)|lung(1)|central_nervous_system(1)	4						AAAGTGGTTTCACTGTTGGAT	0.393		NaN	T	BIRC3	MALT								0	0	0	0.014323	0	21	34				
NFATC1	4772	broad.mit.edu	37	18	77210968	77210968	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:77210968G>C	uc010xfg.1	+	5	2057	c.1604G>C	c.(1603-1605)GGA>GCA	p.G535A	NFATC1_uc002lnc.1_Missense_Mutation_p.G535A|NFATC1_uc010xff.1_Missense_Mutation_p.G535A|NFATC1_uc002lnd.2_Missense_Mutation_p.G535A|NFATC1_uc002lne.2_Missense_Mutation_p.G63A|NFATC1_uc010xfh.1_Missense_Mutation_p.G535A|NFATC1_uc010xfi.1_Missense_Mutation_p.G522A|NFATC1_uc010xfj.1_Missense_Mutation_p.G63A|NFATC1_uc002lnf.2_Missense_Mutation_p.G522A|NFATC1_uc002lng.2_Missense_Mutation_p.G522A|NFATC1_uc010xfk.1_Missense_Mutation_p.G522A	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	535	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GACTGTGCCGGAATCCTGAAA	0.562		NaN											0	0	0	0.013114	0	46	81				
MIDN	90007	broad.mit.edu	37	19	1257191	1257191	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:1257191G>A	uc002lrp.2	+	8	1842	c.1327G>A	c.(1327-1329)GGC>AGC	p.G443S		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	443						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)		CGAGGCCTCCGGCTTGGGCCT	0.682		NaN											0	0	0	0.008361	0	29	18				
EEF2	1938	broad.mit.edu	37	19	3982047	3982047	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:3982047G>A	uc002lze.2	-	6	878	c.795C>T	c.(793-795)TAC>TAT	p.Y265Y		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	265						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGTCAAAGTACCTGGCAA	0.592		NaN											0	0	0	0.009535	0	31	29				
MPND	84954	broad.mit.edu	37	19	4359177	4359177	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:4359177C>T	uc002mae.2	+	11	1321	c.1254C>T	c.(1252-1254)TTC>TTT	p.F418F	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.F398F|MPND_uc002maf.2_Silent_p.F448F|MPND_uc002mah.2_Silent_p.F306F|MPND_uc002mai.2_Silent_p.F307F	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	418							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGAGTTCTACAAGGGTT	0.612		NaN											0	0	0	0.012213	0	31	38				
SH3GL1	6455	broad.mit.edu	37	19	4366967	4366967	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:4366967C>A	uc002maj.2	-	2	176	c.70G>T	c.(70-72)GCC>TCC	p.A24S	SH3GL1_uc002mak.2_Missense_Mutation_p.A24S|SH3GL1_uc010xig.1_Missense_Mutation_p.A24S	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	24	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GTCCCCTCGGCCCCTCCGACC	0.597		NaN	T	MLL	AL								1	0	1.48734e-19	0.013114	1.60585e-19	45	143				
ARHGEF18	23370	broad.mit.edu	37	19	7518413	7518413	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:7518413C>G	uc002mgi.2	+	7	1605	c.1352C>G	c.(1351-1353)TCA>TGA	p.S451*	ARHGEF18_uc010xjm.1_Nonsense_Mutation_p.S293*|ARHGEF18_uc002mgh.2_Nonsense_Mutation_p.S293*|ARHGEF18_uc002mgj.1_Nonsense_Mutation_p.S94*	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	451	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				GATATCATCTCACAAGTGGAC	0.522		NaN											0	0	0	0.008871	0	21	74				
YIPF2	78992	broad.mit.edu	37	19	11038321	11038321	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:11038321G>A	uc002mqb.2	-	4	388	c.264C>T	c.(262-264)GAC>GAT	p.D88D	YIPF2_uc002mqc.2_Silent_p.D88D|C19orf52_uc002mqd.1_5'Flank	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	88	Cytoplasmic (Potential).					integral to membrane|transport vesicle					0						AGGTGTCCACGTCAAAGAAGC	0.517		NaN											0	0	0	0.012319	0	22	25				
TRMT1	55621	broad.mit.edu	37	19	13220477	13220477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13220477C>A	uc002mwj.2	-	10	1448	c.1198G>T	c.(1198-1200)GAG>TAG	p.E400*	TRMT1_uc010xmy.1_Nonsense_Mutation_p.E4*|TRMT1_uc002mwk.2_Nonsense_Mutation_p.E371*|TRMT1_uc002mwl.3_Nonsense_Mutation_p.E400*|TRMT1_uc010xmz.1_Nonsense_Mutation_p.E186*	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	400							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGGATGGGCTCTGCCCACATG	0.652		NaN											1	0	4.54149e-19	0.014323	4.89361e-19	21	56				
TRMT1	55621	broad.mit.edu	37	19	13223540	13223540	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13223540C>A	uc002mwj.2	-	6	1099	c.849G>T	c.(847-849)AAG>AAT	p.K283N	TRMT1_uc002mwk.2_Missense_Mutation_p.K283N|TRMT1_uc002mwl.3_Missense_Mutation_p.K283N|TRMT1_uc010xmz.1_Missense_Mutation_p.K69N	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	283							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGGCCCGGCTCTTGAGGGCCA	0.642		NaN											1	0	1.02788e-11	0.00499	1.08599e-11	16	78				
TRMT1	55621	broad.mit.edu	37	19	13226568	13226568	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13226568C>G	uc002mwj.2	-	3	575	c.325G>C	c.(325-327)GAG>CAG	p.E109Q	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.E109Q|TRMT1_uc002mwl.3_Missense_Mutation_p.E109Q|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	109							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GTGTCCTTCTCTCCTGGAACC	0.502		NaN											0	0	0	0.013114	0	45	141				
MRI1	84245	broad.mit.edu	37	19	13882933	13882933	+	Splice_Site	SNP	A	A	G	rs112124892	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13882933A>G	uc002mxe.2	+	6	1016	c.950_splice	c.e6-2	p.G317_splice	MRI1_uc002mxf.2_Splice_Site_p.G270_splice|C19orf53_uc002mxg.2_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit						L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			ovary(1)	1						TCTCCCCTGCAGGGATTGGAG	0.542		NaN											0	0	0	0.013726	0	33	28				
DCAF15	90379	broad.mit.edu	37	19	14065247	14065247	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:14065247A>C	uc002mxt.2	+	2	234	c.228A>C	c.(226-228)GCA>GCC	p.A76A	PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	76										central_nervous_system(1)	1						TCCTCTATGCAGGGTGAGGCT	0.657		NaN											0	0	0	0.006214	0	10	38				
CPAMD8	27151	broad.mit.edu	37	19	17132940	17132940	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:17132940G>A	uc002nfb.2	-	2	317	c.285C>T	c.(283-285)GTC>GTT	p.V95V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	48						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TCACGCTGATGACTTCCTCCA	0.602		NaN											0	0	0	0.010729	0	11	8				
CRLF1	9244	broad.mit.edu	37	19	18705189	18705189	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:18705189C>G	uc010ebt.1	-	7	1274	c.1080G>C	c.(1078-1080)TCG>TCC	p.S360S		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	360					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						GCACCGGCCCCGAGCTCGGCT	0.617		NaN											0	0	0	0.014758	0	4	7				
ZNF792	126375	broad.mit.edu	37	19	35450251	35450251	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35450251C>T	uc002nxh.1	-	4	895	c.508G>A	c.(508-510)GAG>AAG	p.E170K		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGAACTCAGAGCCTTTC	0.502		NaN											0	0	0	0.01441	0	132	188				
DMKN	93099	broad.mit.edu	37	19	35993780	35993780	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35993780G>A	uc002nzm.3	-	10	1326	c.1143C>T	c.(1141-1143)GTC>GTT	p.V381V	DMKN_uc002nzi.3_5'Flank|DMKN_uc002nzj.2_Silent_p.V55V|DMKN_uc002nzk.3_Silent_p.V28V|DMKN_uc002nzl.3_Silent_p.V94V|DMKN_uc002nzo.3_Silent_p.V370V|DMKN_uc002nzn.3_Silent_p.V340V|DMKN_uc002nzw.2_Silent_p.V37V|DMKN_uc002nzr.2_Silent_p.V37V|DMKN_uc002nzp.2_Silent_p.V75V|DMKN_uc002nzq.2_Silent_p.V57V|DMKN_uc002nzt.2_Silent_p.V28V|DMKN_uc002nzs.2_Silent_p.V28V|DMKN_uc002nzu.2_Silent_p.V28V|DMKN_uc002nzv.2_Silent_p.V28V|DMKN_uc010xsv.1_Silent_p.V28V|DMKN_uc010xsw.1_Silent_p.V77V	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	381						extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGGGGGCGGGACCTGGTTCT	0.607		NaN											0	0	0	0.006122	0	16	37				
SHKBP1	92799	broad.mit.edu	37	19	41086561	41086561	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:41086561A>G	uc002oob.2	+	8	701	c.652A>G	c.(652-654)AGG>GGG	p.R218G	SHKBP1_uc002ooc.2_Missense_Mutation_p.R218G|SHKBP1_uc002ood.2_Missense_Mutation_p.R218G|SHKBP1_uc010xvl.1_Missense_Mutation_p.R141G|SHKBP1_uc002ooe.2_Missense_Mutation_p.R55G|SHKBP1_uc002oof.2_Missense_Mutation_p.R55G|SHKBP1_uc010xvm.1_Missense_Mutation_p.R55G|SHKBP1_uc010xvn.1_Missense_Mutation_p.R96G	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	218						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTCTGCTACAGGTGCTTGGG	0.582		NaN											0	0	0	0.007291	0	30	62				
CYP2A7	1549	broad.mit.edu	37	19	41383229	41383229	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:41383229A>G	uc002opm.2	-	7	1569	c.1027T>C	c.(1027-1029)TTT>CTT	p.F343L	CYP2A7_uc002opo.2_Missense_Mutation_p.F343L|CYP2A7_uc002opn.2_Missense_Mutation_p.F292L	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	343						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGTCCTCAAACTTGGGCTGC	0.542		NaN											0	0	0	0.01441	0	51	65				
MEGF8	1954	broad.mit.edu	37	19	42856512	42856512	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:42856512G>A	uc002otl.3	+	18	3688	c.3053G>A	c.(3052-3054)TGC>TAC	p.C1018Y	MEGF8_uc002otm.3_Missense_Mutation_p.C626Y	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1085	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CTGGCCCGGTGCCACCCGCGG	0.701		NaN											0	0	0	0.00308	0	8	6				
ZNF222	7673	broad.mit.edu	37	19	44536804	44536804	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:44536804C>T	uc002oyc.2	+	4	1160	c.977C>T	c.(976-978)TCA>TTA	p.S326L	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.S366L|ZNF222_uc002oyd.2_Missense_Mutation_p.S272L	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN	zinc finger protein 222 isoform 2	326	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Prostate(69;0.0435)				AAATGGTCCTCATATCTTTTG	0.413		NaN											0	0	0	0.01441	0	70	117				
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:45867687T>C	uc002pbj.2	-	8	760	c.713A>G	c.(712-714)AAC>AGC	p.N238S	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.001984	0	7	24		Valid		
GPR77	27202	broad.mit.edu	37	19	47844630	47844630	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:47844630G>A	uc010ela.1	+	2	792	c.574G>A	c.(574-576)GGC>AGC	p.G192S	GPR77_uc002pgk.1_Missense_Mutation_p.G192S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	192	Extracellular (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GGACTACGGCGGCTCCTCCAG	0.667		NaN											0	0	0	0.012213	0	33	45				
GYS1	2997	broad.mit.edu	37	19	49496351	49496351	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49496351A>C	uc002plp.2	-	1	260	c.19T>G	c.(19-21)TTG>GTG	p.L7V	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.L7V|GYS1_uc010xzz.1_5'UTR|GYS1_uc010yaa.1_RNA|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank|RUVBL2_uc010yac.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	7					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GACATGGACAAAGTGCGGTTT	0.612		NaN									OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	58	104				
HRC	3270	broad.mit.edu	37	19	49658510	49658510	+	Translation_Start_Site	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49658510G>T	uc002pmv.2	-	1	172	c.-15C>A	c.(-17--13)TGCTG>TGATG		TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein						muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CGGACAGGCAGCACTGGCTCC	0.612		NaN											1	0	9.31168e-06	0.016723	9.6132e-06	14	13				
TEAD2	8463	broad.mit.edu	37	19	49852004	49852004	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49852004C>T	uc002pnj.2	-	8	782	c.691G>A	c.(691-693)GTA>ATA	p.V231I	TEAD2_uc002png.2_Missense_Mutation_p.V234I|TEAD2_uc002pnh.2_Missense_Mutation_p.V235I|TEAD2_uc002pni.2_Missense_Mutation_p.V234I|TEAD2_uc010yao.1_Missense_Mutation_p.V103I|TEAD2_uc010emw.2_Missense_Mutation_p.V234I	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	231	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAGAACTCTACCAGCTGCAAC	0.607		NaN											0	0	0	0.01441	0	53	56				
LIM2	3982	broad.mit.edu	37	19	51883515	51883515	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:51883515C>G	uc002pwm.2	-	5	506	c.462G>C	c.(460-462)GGG>GGC	p.G154G	LIM2_uc002pwl.2_Silent_p.G196G	NM_001161748	NP_001155220	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa isoform	154	Helical; (Potential).				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens				0		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TGTAGAAAATCCCTGCATGAG	0.537		NaN											0	0	0	0.004672	0	3	22				
ZNF615	284370	broad.mit.edu	37	19	52497266	52497266	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:52497266C>T	uc002pye.1	-	6	1355	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K	ZNF615_uc002pyf.1_Missense_Mutation_p.E366K|ZNF615_uc002pyg.1_Missense_Mutation_p.E247K|ZNF615_uc002pyh.1_Missense_Mutation_p.E366K|ZNF615_uc010epi.1_Missense_Mutation_p.E362K|ZNF615_uc010ydg.1_Missense_Mutation_p.E360K	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	355	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGCCTCTTCTCAATGAAGCCT	0.398		NaN											0	0	0	0.01441	0	49	101				
MYADM	91663	broad.mit.edu	37	19	54377621	54377621	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:54377621A>C	uc002qcl.2	+	3	986	c.838A>C	c.(838-840)AGC>CGC	p.S280R	MYADM_uc002qcm.2_Missense_Mutation_p.S280R|MYADM_uc002qcn.2_Missense_Mutation_p.S280R|MYADM_uc002qco.2_Missense_Mutation_p.S280R|MYADM_uc002qcp.2_Missense_Mutation_p.S280R	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	280	MARVEL 2.					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGTAAGCTGCAGCCGCAGCCA	0.617		NaN											0	0	0	0.004007	0	15	52				
CNOT3	4849	broad.mit.edu	37	19	54647749	54647749	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:54647749A>G	uc002qdj.1	+	6	577	c.266A>G	c.(265-267)GAA>GGA	p.E89G	CNOT3_uc010yel.1_Missense_Mutation_p.E89G|CNOT3_uc002qdi.2_Missense_Mutation_p.E2G|CNOT3_uc002qdk.1_Missense_Mutation_p.E89G|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	89					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGCAAATGGAACGGTTCAAA	0.557		NaN											0	0	0	0.012213	0	33	56				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393		NaN											1	0	0.000602214	0.014758	0.000611236	5	24				
YWHAQ	10971	broad.mit.edu	37	2	9728302	9728302	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:9728302C>T	uc002qzw.2	-	3	738	c.574G>A	c.(574-576)GCT>ACT	p.A192T	YWHAQ_uc002qzx.2_Missense_Mutation_p.A192T	NM_006826	NP_006817	P27348	1433T_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	192					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ACCGTTTTAGCCAGCGTGCAG	0.413		NaN											0	0	0	0.008361	0	30	19				
GREB1	9687	broad.mit.edu	37	2	11772057	11772057	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:11772057C>T	uc002rbk.1	+	27	4934	c.4634C>T	c.(4633-4635)CCG>CTG	p.P1545L	GREB1_uc002rbp.1_Missense_Mutation_p.P543L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1545						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATAAAAAGTCCGACATTCACT	0.343		NaN											0	0	0	0.016723	0	12	23				
RAD51AP2	729475	broad.mit.edu	37	2	17697446	17697446	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:17697446C>T	uc002rcl.1	-	1	2261	c.2237G>A	c.(2236-2238)CGA>CAA	p.R746Q	RAD51AP2_uc010exn.1_Missense_Mutation_p.R737Q	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	746										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATGTATCCTCGGTTGTTCTG	0.323		NaN											0	0	0	0.00623	0	40	15				
SDC1	6382	broad.mit.edu	37	2	20405117	20405117	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:20405117G>T	uc002rdo.1	-	2	434	c.135C>A	c.(133-135)TCC>TCA	p.S45S	SDC1_uc002rdp.1_Silent_p.S45S|SDC1_uc010exv.2_Silent_p.S45S|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	45	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CACCTGAGCCGGAGAAGTTGT	0.532		NaN											1	0	5.08636e-23	0.01441	5.5469e-23	62	30				
REL	5966	broad.mit.edu	37	2	61149024	61149024	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:61149024C>T	uc002sam.1	+	11	1438	c.1214C>T	c.(1213-1215)GCA>GTA	p.A405V	REL_uc002san.1_Missense_Mutation_p.A373V	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	405					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GCCTCAATGGCACCTCTGCCT	0.507		NaN	A		Hodgkin Lymphoma								0	0	0	0.005443	0	26	67				
AFTPH	54812	broad.mit.edu	37	2	64779951	64779951	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:64779951T>C	uc002sdc.2	+	1	1375	c.1343T>C	c.(1342-1344)TTT>TCT	p.F448S	AFTPH_uc002scz.2_Missense_Mutation_p.F448S|AFTPH_uc002sda.2_Missense_Mutation_p.F448S|AFTPH_uc002sdb.2_Missense_Mutation_p.F448S	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	448					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						ACTCCACCTTTTGTTACTGGT	0.398		NaN											0	0	0	0.005524	0	40	135				
ST3GAL5	8869	broad.mit.edu	37	2	86090551	86090551	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:86090551A>G	uc002sqq.1	-	2	269	c.140T>C	c.(139-141)CTG>CCG	p.L47P	ST3GAL5_uc010ysy.1_Missense_Mutation_p.L47P|ST3GAL5_uc010ysz.1_Missense_Mutation_p.L47P|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Missense_Mutation_p.L24P	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	47	Cytoplasmic (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						GTACCATTGCAGGGAAGGCCT	0.512		NaN											0	0	0	0.004007	0	15	56				
VWA3B	200403	broad.mit.edu	37	2	98779342	98779342	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:98779342C>T	uc002syo.2	+	8	1281	c.1017C>T	c.(1015-1017)CTC>CTT	p.L339L	VWA3B_uc010yvh.1_Silent_p.L189L|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.L339L|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	339										ovary(3)|large_intestine(2)|skin(1)	6						ACGTGTTTCTCGTTTGGCAAG	0.637		NaN											0	0	0	0.004656	0	26	17				
TTL	150465	broad.mit.edu	37	2	113258822	113258822	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:113258822T>C	uc002thu.2	+	4	688	c.509T>C	c.(508-510)CTC>CCC	p.L170P	TTL_uc010fkm.1_5'Flank	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	170	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCAGAGCTTCTCGATTTCATA	0.458		NaN	T	ETV6	ALL								0	0	0	0.008871	0	21	55				
SCTR	6344	broad.mit.edu	37	2	120221747	120221747	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:120221747G>A	uc002tma.2	-	6	814	c.588C>T	c.(586-588)GAC>GAT	p.D196D	SCTR_uc002tlz.2_Silent_p.D18D	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	196	Extracellular (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity	p.D196N(1)		ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	AGAGCACGGCGTCCTTGATGA	0.582		NaN											0	0	0	0.00499	0	18	61				
PROC	5624	broad.mit.edu	37	2	128185988	128185988	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128185988G>A	uc002tok.2	+	9	925	c.852G>A	c.(850-852)GAG>GAA	p.E284E	PROC_uc002tol.2_Silent_p.E305E|PROC_uc010yzi.1_Silent_p.E340E|PROC_uc010yzj.1_Silent_p.E179E|PROC_uc010yzk.1_Silent_p.E339E|PROC_uc002tom.2_Silent_p.E318E	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	284	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACATCAAGGAGGTCTTCGTCC	0.632		NaN											0	0	0	0.00632	0	30	34				
MYO7B	4648	broad.mit.edu	37	2	128324290	128324290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128324290C>T	uc002top.2	+	5	411	c.358C>T	c.(358-360)CAG>TAG	p.Q120*		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	120	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGCAGGTACAGCTCTACTA	0.592		NaN											0	0	0	0.009096	0	4	17				
LIMS2	55679	broad.mit.edu	37	2	128399647	128399647	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128399647G>A	uc002tpa.2	-	6	803	c.637C>T	c.(637-639)CTG>TTG	p.L213L	LIMS2_uc002tou.2_Silent_p.L21L|LIMS2_uc002tov.2_Silent_p.L61L|LIMS2_uc002tow.2_Silent_p.L61L|LIMS2_uc002tox.2_Silent_p.L237L|LIMS2_uc010fmb.2_Silent_p.L123L|LIMS2_uc002toy.2_Silent_p.L208L|LIMS2_uc010yzm.1_Silent_p.L235L|LIMS2_uc002toz.2_Silent_p.L208L|LIMS2_uc002tpb.2_Silent_p.L208L	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	213	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TGCTTGCCCAGCGCGTTGACC	0.667		NaN											0	0	0	0.004672	0	3	12				
SAP130	79595	broad.mit.edu	37	2	128699689	128699689	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128699689C>G	uc002tpp.2	-	20	3170	c.3038G>C	c.(3037-3039)AGA>ACA	p.R1013T	SAP130_uc002tpn.2_Missense_Mutation_p.R773T|SAP130_uc002tpo.2_Missense_Mutation_p.R793T|SAP130_uc010fmd.2_Missense_Mutation_p.R1048T	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	1013	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CATGGAGTCTCTGGCTTCACT	0.413		NaN											0	0	0	0.007291	0	31	71				
RAB3GAP1	22930	broad.mit.edu	37	2	135922214	135922214	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:135922214G>A	uc002tuj.2	+	23	2682	c.2657G>A	c.(2656-2658)GGA>GAA	p.G886E	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.G886E|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G711E|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	886						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACCGGTGCAGGAAGAGGACAT	0.498		NaN											0	0	0	0.006214	0	10	22				
LYPD6B	130576	broad.mit.edu	37	2	150061768	150061768	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:150061768T>C	uc002twv.1	+	4	480	c.79T>C	c.(79-81)TAT>CAT	p.Y27H	LYPD6B_uc002tww.1_5'UTR|LYPD6B_uc002twx.1_5'UTR	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	3						anchored to membrane|plasma membrane					0						TCACCATAGATATAAGAGTTC	0.433		NaN											0	0	0	0.01441	0	52	43				
LRP2	4036	broad.mit.edu	37	2	170151164	170151164	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:170151164G>C	uc002ues.2	-	5	697	c.484C>G	c.(484-486)CAG>GAG	p.Q162E	LRP2_uc010zdf.1_Missense_Mutation_p.Q162E	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	162	LDL-receptor class A 4.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCACACTTCTGACTGGTGTTA	0.318		NaN											0	0	0	0.004656	0	25	25				
GPR155	151556	broad.mit.edu	37	2	175304649	175304649	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:175304649G>A	uc002uit.2	-	16	2680	c.2289C>T	c.(2287-2289)ATC>ATT	p.I763I	GPR155_uc002uiu.2_Silent_p.I763I|GPR155_uc002uiv.2_Silent_p.I763I|GPR155_uc010fqs.2_Silent_p.I735I	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	763	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						CAATGTTTCGGATACAGAGGT	0.343		NaN											0	0	0	0.007413	0	17	77				
TTN	7273	broad.mit.edu	37	2	179587113	179587113	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:179587113A>G	uc010zfg.1	-	74	18893	c.18669T>C	c.(18667-18669)ACT>ACC	p.T6223T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2884T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7150							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACAAATGAAGTCTGTAGAT	0.413		NaN											0	0	0	0.012213	0	35	24				
PIKFYVE	200576	broad.mit.edu	37	2	209142384	209142384	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:209142384A>T	uc002vcz.2	+	5	723	c.565A>T	c.(565-567)AGT>TGT	p.S189C	PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S189C|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S189C|PIKFYVE_uc002vcx.2_Intron	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	189	FYVE-type.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GATTTTCTGCAGTCGTTGCTG	0.383		NaN											0	0	0	0.009535	0	27	107				
TNS1	7145	broad.mit.edu	37	2	218712961	218712961	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:218712961C>T	uc002vgt.2	-	17	2302	c.1904G>A	c.(1903-1905)CGA>CAA	p.R635Q	TNS1_uc002vgr.2_Missense_Mutation_p.R635Q|TNS1_uc002vgs.2_Missense_Mutation_p.R635Q|TNS1_uc010zjv.1_Missense_Mutation_p.R635Q|TNS1_uc010fvj.1_Missense_Mutation_p.R703Q|TNS1_uc010fvk.1_Missense_Mutation_p.R760Q|TNS1_uc010fvi.1_Missense_Mutation_p.R322Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	635						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCTTCCCCCTCGGACCGGAGC	0.542		NaN											0	0	0	0.001168	0	6	59				
OBSL1	23363	broad.mit.edu	37	2	220434968	220434968	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:220434968G>A	uc010fwk.2	-	1	1044	c.987C>T	c.(985-987)CTC>CTT	p.L329L	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.L329L|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	329	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCACGGCACTGAGCGTCTGGC	0.692		NaN											0	0	0	0.00308	0	8	8				
ATG16L1	55054	broad.mit.edu	37	2	234198934	234198934	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:234198934T>C	uc002vty.2	+	14	1622	c.1365T>C	c.(1363-1365)ATT>ATC	p.I455I	ATG16L1_uc002vtx.1_Silent_p.I292I|ATG16L1_uc002vua.2_Silent_p.I436I|ATG16L1_uc002vub.2_Silent_p.I313I|ATG16L1_uc002vtz.2_Silent_p.I276I|ATG16L1_uc002vud.3_Silent_p.I371I	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	455	WD 4.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GCAATGATATTGTCTGCACAG	0.413		NaN											0	0	0	0.00623	0	37	68				
UGT1A10	54575	broad.mit.edu	37	2	234545483	234545483	+	Silent	SNP	A	A	C	rs45580232		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:234545483A>C	uc002vur.2	+	1	361	c.315A>C	c.(313-315)ATA>ATC	p.I105I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.I105I	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	105					flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)|skin(1)	3		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACAAAGTATATTTTCTCTAT	0.388		NaN											0	0	0	0.006122	0	19	73				
DEFB125	245938	broad.mit.edu	37	20	76978	76978	+	Missense_Mutation	SNP	G	G	A	rs140898692		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:76978G>A	uc002wcw.2	+	2	391	c.391G>A	c.(391-393)GAG>AAG	p.E131K		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	131					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CACTACTCCCGAGACTACTAT	0.428		NaN											0	0	0	0.01441	0	55	324				
ADAM33	80332	broad.mit.edu	37	20	3655249	3655249	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:3655249G>A	uc002wit.2	-	6	589	c.502C>T	c.(502-504)CGG>TGG	p.R168W	ADAM33_uc002wir.1_Missense_Mutation_p.R168W|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.R168W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R180W|ADAM33_uc010zqh.1_Missense_Mutation_p.R168W	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	168	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						TGCTCCATCCGAAAGATCTCG	0.607		NaN											0	0	0	0.00632	0	29	139				
SMOX	54498	broad.mit.edu	37	20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:4168011G>A	uc002wkm.1	+	7	1826	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	SMOX_uc002wkk.1_Missense_Mutation_p.R519H|SMOX_uc002wkl.1_Missense_Mutation_p.R489H|SMOX_uc002wkn.1_Missense_Mutation_p.R177H|SMOX_uc002wkp.2_Missense_Mutation_p.R572H|SMOX_uc010zqo.1_Missense_Mutation_p.R466H|SMOX_uc002wko.1_Missense_Mutation_p.R542H	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	542					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632		NaN											0	0	0	0.010818	0	32	54				
PCNA	5111	broad.mit.edu	37	20	5098271	5098271	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:5098271C>T	uc002wlp.2	-	4	630	c.427G>A	c.(427-429)GAA>AAA	p.E143K	PCNA_uc002wlq.2_Missense_Mutation_p.E143K	NM_182649	NP_872590	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	143					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			lung(1)	1						CGTGCAAATTCACCAGAAGGC	0.383		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.013726	0	29	118				
RRBP1	6238	broad.mit.edu	37	20	17600979	17600979	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:17600979C>T	uc002wpv.1	-	19	2599	c.2245G>A	c.(2245-2247)GAG>AAG	p.E749K	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.E119K|RRBP1_uc002wpu.2_Missense_Mutation_p.E523K|RRBP1_uc002wpw.1_Missense_Mutation_p.E749K|RRBP1_uc010gcl.1_Missense_Mutation_p.E523K|RRBP1_uc010gcm.1_3'UTR	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1182	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						TTTAGCTTCTCTACAATCTCT	0.517		NaN											0	0	0	0.01441	0	56	89				
RRBP1	6238	broad.mit.edu	37	20	17602568	17602568	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:17602568G>C	uc002wpv.1	-	15	2227	c.1873C>G	c.(1873-1875)CTG>GTG	p.L625V	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_5'UTR|RRBP1_uc002wpu.2_Missense_Mutation_p.L399V|RRBP1_uc002wpw.1_Missense_Mutation_p.L625V|RRBP1_uc010gcl.1_Missense_Mutation_p.L399V|RRBP1_uc010gcm.1_Missense_Mutation_p.L78V	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1058	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						GCCTCAATCAGACAGAGCTGC	0.612		NaN											0	0	0	0.012319	0	22	76				
CST8	10047	broad.mit.edu	37	20	23472362	23472362	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:23472362G>A	uc002wth.1	+	2	415	c.58G>A	c.(58-60)GCC>ACC	p.A20T		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	20						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCCCTGGTGGCCAGGAAAGA	0.557		NaN											0	0	0	0.01441	0	47	89				
MAP1LC3A	84557	broad.mit.edu	37	20	33147580	33147580	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:33147580C>A	uc002xaq.1	+	4	398	c.244C>A	c.(244-246)CTG>ATG	p.L82M	MAP1LC3A_uc002xap.1_Missense_Mutation_p.L86M	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3	82					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding				0						CTTCTTCCTGCTGGTGAACCA	0.632		NaN											1	0	1.11057e-38	0.01441	1.22344e-38	81	173				
ACSS2	55902	broad.mit.edu	37	20	33507279	33507279	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:33507279C>T	uc002xbd.2	+	8	997	c.876C>T	c.(874-876)CTC>CTT	p.L292L	ACSS2_uc002xbc.2_Silent_p.L197L|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Silent_p.L305L|ACSS2_uc002xbe.2_5'UTR|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	292					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCATGAGCTCATGCAAGAGG	0.557		NaN											0	0	0	0.01441	0	55	154				
BPI	671	broad.mit.edu	37	20	36937359	36937359	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:36937359C>T	uc002xib.2	+	3	347	c.285C>T	c.(283-285)CCC>CCT	p.P95P		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	95					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				TCCAGCTTCCCAGTTCCCAGA	0.448		NaN											0	0	0	0.01441	0	51	107				
SLC32A1	140679	broad.mit.edu	37	20	37353467	37353467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:37353467C>T	uc002xjc.2	+	1	363	c.100C>T	c.(100-102)CAG>TAG	p.Q34*		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	34	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GATGGGTTTTCAGGCGGCCAC	0.632		NaN											0	0	0	0.008871	0	19	19				
CHD6	84181	broad.mit.edu	37	20	40044106	40044106	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:40044106G>C	uc002xka.1	-	34	6837	c.6659C>G	c.(6658-6660)TCC>TGC	p.S2220C	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2220					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TGATGAGCAGGAGAGGTCCAT	0.612		NaN											0	0	0	0.003163	0	16	31				
DNTTIP1	116092	broad.mit.edu	37	20	44430092	44430092	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:44430092A>G	uc002xpk.2	+	6	561	c.493A>G	c.(493-495)AAA>GAA	p.K165E		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	165	Nuclear localization signal (Potential).					nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				CCCCCTTCCTAAAAAGGTAAA	0.378		NaN											0	0	0	0.014323	0	22	120				
ADNP	23394	broad.mit.edu	37	20	49510909	49510909	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:49510909G>A	uc002xvt.1	-	5	687	c.342C>T	c.(340-342)TTC>TTT	p.F114F	ADNP_uc002xvu.1_Silent_p.F114F	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	114	C2H2-type 2; atypical.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TGTCTGCATTGAAGGTACAGT	0.393		NaN											0	0	0	0.010771	0	43	115				
BCAS1	8537	broad.mit.edu	37	20	52645077	52645077	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:52645077A>T	uc002xws.2	-	4	915	c.577T>A	c.(577-579)TTT>ATT	p.F193I	BCAS1_uc010zzb.1_Missense_Mutation_p.F96I|BCAS1_uc010gim.2_Missense_Mutation_p.F96I|BCAS1_uc002xwt.2_Missense_Mutation_p.F193I|BCAS1_uc010gil.1_Missense_Mutation_p.F193I|BCAS1_uc010zzc.1_Missense_Mutation_p.F96I	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	193						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGTCAAAAAAGCTGGAGTCC	0.562		NaN											0	0	0	0.01441	0	74	110				
TFAP2C	7022	broad.mit.edu	37	20	55206484	55206484	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:55206484A>G	uc002xya.2	+	2	515	c.272A>G	c.(271-273)CAC>CGC	p.H91R	TFAP2C_uc010zzi.1_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	91	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			AACCCCCTGCACCAGCCGGCG	0.741		NaN											0	0	0	0.004672	0	3	7				
LSM14B	149986	broad.mit.edu	37	20	60706476	60706476	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:60706476C>T	uc010gjy.1	+	7	1106	c.900C>T	c.(898-900)CCC>CCT	p.P300P	LSM14B_uc002ybv.2_Silent_p.P274P|LSM14B_uc010zzz.1_Silent_p.P220P	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	300					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCGAAGCGCCCGCTGAGGAAG	0.527		NaN											0	0	0	0.010504	0	21	25				
TIAM1	7074	broad.mit.edu	37	21	32525013	32525013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:32525013C>A	uc002yow.1	-	20	3779	c.3307G>T	c.(3307-3309)GAA>TAA	p.E1103*	TIAM1_uc011adk.1_Nonsense_Mutation_p.E1103*|TIAM1_uc011adl.1_Nonsense_Mutation_p.E1043*	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1103	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ACTCCATCTTCTAGAGTTTTA	0.378		NaN											1	0	9.57634e-11	0.01892	1.00784e-10	25	57				
MORC3	23515	broad.mit.edu	37	21	37741384	37741384	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:37741384A>G	uc002yvi.2	+	15	1794	c.1718A>G	c.(1717-1719)GAT>GGT	p.D573G		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	573					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						GGTGATGATGATGATGAAGAT	0.378		NaN											0	0	0	0.011902	0	45	50				
HLCS	3141	broad.mit.edu	37	21	38139583	38139583	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:38139583C>T	uc010gnb.2	-	7	2656	c.1455G>A	c.(1453-1455)CTG>CTA	p.L485L	HLCS_uc002yvs.2_Silent_p.L485L	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	485					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTGAAACATCAGCCTGCCGA	0.567		NaN											0	0	0	0.00245	0	14	56				
HMGN1	3150	broad.mit.edu	37	21	40715063	40715063	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:40715063C>T	uc002yxo.2	-	6	482	c.278G>A	c.(277-279)GGA>GAA	p.G93E	HMGN1_uc002yxp.2_Missense_Mutation_p.E57K|HMGN1_uc002yxq.2_Missense_Mutation_p.E57K|HMGN1_uc002yxr.2_RNA	NM_004965	NP_004956	P05114	HMGN1_HUMAN	high-mobility group nucleosome binding domain 1	93					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(1)	1		Prostate(19;8.69e-07)				TTCTTTCTCTCCTGCTTCATC	0.368		NaN											0	0	0	0.006214	0	9	44				
DSCAM	1826	broad.mit.edu	37	21	42218552	42218552	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:42218552G>A	uc002yyq.1	-	1	488	c.36C>T	c.(34-36)TTC>TTT	p.F12F	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	12					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACCATTCGCGAAGCTCTGGA	0.502		NaN											0	0	0	0.014758	0	5	2				
RSPH1	89765	broad.mit.edu	37	21	43916272	43916272	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:43916272A>G	uc002zbg.2	-	1	130	c.25T>C	c.(25-27)TTG>CTG	p.L9L	SLC37A1_uc002zbh.1_RNA	NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	9					meiosis	cytosol|nucleus				ovary(1)	1						TCCTCCTCCAACTCCTCCGAG	0.657		NaN											0	0	0	0.004007	0	13	36				
DIP2A	23181	broad.mit.edu	37	21	47953951	47953951	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:47953951G>A	uc002zjo.2	+	12	1647	c.1464G>A	c.(1462-1464)GGG>GGA	p.G488G	DIP2A_uc011afy.1_Silent_p.G424G|DIP2A_uc011afz.1_Silent_p.G484G|DIP2A_uc002zjl.2_Silent_p.G488G|DIP2A_uc002zjm.2_Silent_p.G488G|DIP2A_uc010gql.2_Silent_p.G445G|DIP2A_uc002zjn.2_Silent_p.G488G|DIP2A_uc002zjp.1_Silent_p.G233G	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	488					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGATTGATGGGAAGCATCTAG	0.562		NaN											0	0	0	0.009096	0	4	16				
CLTCL1	8218	broad.mit.edu	37	22	19222205	19222205	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:19222205C>T	uc002zpb.2	-	7	1069	c.994G>A	c.(994-996)GAT>AAT	p.D332N	CLTCL1_uc011agv.1_Missense_Mutation_p.D332N|CLTCL1_uc011agw.1_Missense_Mutation_p.D332N	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	332	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					ACAATGTTATCTTCCTCAACA	0.502		NaN	T	NaN	ALCL								0	0	0	0.01441	0	48	30				
CLTCL1	8218	broad.mit.edu	37	22	19222208	19222208	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:19222208C>T	uc002zpb.2	-	7	1066	c.991G>A	c.(991-993)GAA>AAA	p.E331K	CLTCL1_uc011agv.1_Missense_Mutation_p.E331K|CLTCL1_uc011agw.1_Missense_Mutation_p.E331K	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	331	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					ATGTTATCTTCCTCAACACAA	0.507		NaN	T	NaN	ALCL								0	0	0	0.01441	0	50	31				
LZTR1	8216	broad.mit.edu	37	22	21351029	21351029	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:21351029G>T	uc002zto.2	+	19	2367	c.2264G>T	c.(2263-2265)CGG>CTG	p.R755L	LZTR1_uc002ztn.2_Missense_Mutation_p.R714L|LZTR1_uc011ahy.1_Missense_Mutation_p.R736L|LZTR1_uc002ztp.2_Missense_Mutation_p.R61L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	755					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACAACAACCGGCTGCAGGCG	0.617		NaN											1	0	0.00121646	0.008871	0.00123238	19	9				
SUSD2	56241	broad.mit.edu	37	22	24582315	24582315	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:24582315G>T	uc002zzn.1	+	10	1618	c.1574G>T	c.(1573-1575)GGA>GTA	p.G525V		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	525	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AACAGGACCGGAGGTCTGGAG	0.652		NaN											1	0	3.59834e-05	0.001168	3.70076e-05	5	19				
MTMR3	8897	broad.mit.edu	37	22	30394794	30394794	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:30394794G>C	uc003agv.3	+	8	833	c.505G>C	c.(505-507)GGT>CGT	p.G169R	MTMR3_uc003agu.3_Missense_Mutation_p.G169R|MTMR3_uc003agw.3_Missense_Mutation_p.G169R	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	169	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGAGAGGATGGGTTTTGATAT	0.428		NaN											0	0	0	0.009096	0	4	12				
MYH9	4627	broad.mit.edu	37	22	36745173	36745173	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:36745173C>G	uc003apg.2	-	2	340	c.109G>C	c.(109-111)GAC>CAC	p.D37H	MYH9_uc003api.1_Missense_Mutation_p.D37H	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	37	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCACTCTTGTCGGAAGGCACC	0.552		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.016723	0	12	18				
CARD10	29775	broad.mit.edu	37	22	37904564	37904564	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:37904564C>T	uc003asx.1	-	5	1038	c.1035G>A	c.(1033-1035)GAG>GAA	p.E345E	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Silent_p.E59E|CARD10_uc003asy.1_Silent_p.E345E	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	345	Potential.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					CCCACTGCAGCTCCCCCTGCA	0.697		NaN											0	0	0	0.009096	0	4	4				
FAM83F	113828	broad.mit.edu	37	22	40415995	40415995	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:40415995G>A	uc003ayk.1	+	3	856	c.762G>A	c.(760-762)GTG>GTA	p.V254V		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	254										breast(1)	1						GTGACAAAGTGGCCACTGGAT	0.587		NaN											0	0	0	0.009718	0	41	20				
ACO2	50	broad.mit.edu	37	22	41913629	41913629	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:41913629C>G	uc003bac.2	+	7	956	c.934C>G	c.(934-936)CGG>GGG	p.R312G	ACO2_uc003bad.2_Missense_Mutation_p.R337G	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	312					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						CAAGACCGGCCGGGAAGGTGA	0.567		NaN									OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014758	0	5	15				
SERHL2	253190	broad.mit.edu	37	22	42952596	42952596	+	Splice_Site	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:42952596T>A	uc003bcr.2	+	6	525	c.423_splice	c.e6+2	p.D141_splice	SERHL_uc011apm.1_Intron|SERHL2_uc011apn.1_Splice_Site_p.D127_splice|SERHL2_uc010gyz.2_Splice_Site_p.D77_splice|SERHL2_uc010gyy.2_Splice_Site|SERHL2_uc011apo.1_Splice_Site|RRP7B_uc003bcs.2_RNA	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2							perinuclear region of cytoplasm|peroxisome	hydrolase activity				0						GAATCAGATGTGAGAAGCGGG	0.562		NaN											0	0	0	0.01441	0	38	83				
ITPR1	3708	broad.mit.edu	37	3	4730215	4730215	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:4730215G>A	uc003bqa.2	+	31	4060	c.3712G>A	c.(3712-3714)GCT>ACT	p.A1238T	ITPR1_uc010hca.1_Missense_Mutation_p.A1223T|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.A169T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1247	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AATGAGGTTGGCTCATGAATT	0.468		NaN											0	0	0	0.008361	0	30	106				
LMCD1	29995	broad.mit.edu	37	3	8607273	8607273	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:8607273A>C	uc003bqq.2	+	5	993	c.879A>C	c.(877-879)GCA>GCC	p.A293A	LMCD1_uc011atd.1_Silent_p.A220A|LMCD1_uc011ate.1_Silent_p.A181A	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632		NaN											0	0	0	0.008291	0	7	18				
OXTR	5021	broad.mit.edu	37	3	8809375	8809375	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:8809375C>T	uc003brc.2	-	3	1121	c.499G>A	c.(499-501)GCC>ACC	p.A167T		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	167	Helical; Name=4; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGCGCGCTGGCCACCAGGCAG	0.716		NaN											0	0	0	0.012319	0	21	12				
BRPF1	7862	broad.mit.edu	37	3	9785587	9785587	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:9785587T>C	uc003bse.2	+	8	3016	c.2617_splice	c.e8+2	p.G873_splice	BRPF1_uc003bsf.2_Splice_Site_p.G879_splice|BRPF1_uc003bsg.2_Splice_Site_p.G872_splice|BRPF1_uc011ati.1_Splice_Site_p.D873_splice	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1						histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CAAGCAAAGGTCTGAATCCCA	0.602		NaN											0	0	0	0.003163	0	15	20				
CRELD1	78987	broad.mit.edu	37	3	9976525	9976525	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:9976525G>C	uc003bug.2	+	3	299	c.181G>C	c.(181-183)GAG>CAG	p.E61Q	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.E61Q|CRELD1_uc003buh.2_Missense_Mutation_p.E61Q|CRELD1_uc003bui.2_Missense_Mutation_p.E61Q|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	61	Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						CCAGGGCCTGGAGAGAACCAT	0.363		NaN											0	0	0	0.001984	0	7	15				
FANCD2	2177	broad.mit.edu	37	3	10106445	10106445	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10106445G>C	uc003buw.2	+	23	2132	c.2054G>C	c.(2053-2055)GGA>GCA	p.G685A	FANCD2_uc003bux.1_Missense_Mutation_p.G685A|FANCD2_uc003buy.1_Missense_Mutation_p.G685A|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	685					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCACTGTACGGACTGGAAGAA	0.498		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.007291	0	28	97				
FANCD2	2177	broad.mit.edu	37	3	10107147	10107147	+	Missense_Mutation	SNP	C	C	A	rs35817402		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10107147C>A	uc003buw.2	+	24	2316	c.2238C>A	c.(2236-2238)AAC>AAA	p.N746K	FANCD2_uc003bux.1_Missense_Mutation_p.N746K|FANCD2_uc003buy.1_Missense_Mutation_p.N746K|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	746					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GACAGCATAACGGAAACTTGG	0.443		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				1	0	2.35188e-11	0.006122	2.48e-11	18	63				
ATP2B2	491	broad.mit.edu	37	3	10400558	10400558	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10400558G>A	uc003bvt.2	-	14	2392	c.1953C>T	c.(1951-1953)CGC>CGT	p.R651R	ATP2B2_uc003bvv.2_Silent_p.R606R|ATP2B2_uc003bvw.2_Silent_p.R606R|ATP2B2_uc010hdo.2_Silent_p.R356R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	651	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CGTCCCGGTCGCGGGGCCGGA	0.632		NaN											0	0	0	0.013537	0	12	34				
WNT7A	7476	broad.mit.edu	37	3	13916528	13916528	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:13916528C>T	uc003bye.1	-	2	519	c.214G>A	c.(214-216)GAG>AAG	p.E72K		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	72			E -> K (in LPHAS).		activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						AACTGACACTCGTCCAGGCCC	0.597		NaN											0	0	0	0.00499	0	18	35				
TOP2B	7155	broad.mit.edu	37	3	25639947	25639947	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:25639947C>T	uc003cdj.2	-	36	4717	c.4717G>A	c.(4717-4719)GAT>AAT	p.D1573N	TOP2B_uc011awm.1_Missense_Mutation_p.D430N|TOP2B_uc010hff.1_Missense_Mutation_p.D439N	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	1578					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						GAATCCTGATCAAAAGATGTC	0.383		NaN											0	0	0	0.006122	0	19	15				
ZCWPW2	152098	broad.mit.edu	37	3	28562512	28562512	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:28562512G>A	uc003ceh.2	+	9	982	c.814G>A	c.(814-816)GAG>AAG	p.E272K	ZCWPW2_uc003cei.2_Missense_Mutation_p.E272K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E77K	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	272							zinc ion binding			ovary(2)	2						TTTACTAAAAGAGCTGGAGCA	0.368		NaN											0	0	0	0.00308	0	8	32				
DALRD3	55152	broad.mit.edu	37	3	49053759	49053759	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:49053759C>G	uc003cvk.1	-	9	1181	c.1161G>C	c.(1159-1161)CTG>CTC	p.L387L	DALRD3_uc003cvl.1_Silent_p.L387L|DALRD3_uc003cvm.1_Silent_p.L220L|DALRD3_uc010hko.1_Silent_p.L220L|DALRD3_uc011bca.1_Silent_p.L387L	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	387					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCTGTCAGCCAGAGCCAGGA	0.547		NaN											0	0	0	0.004672	0	3	28				
DUSP7	1849	broad.mit.edu	37	3	52089928	52089928	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:52089928G>C	uc003dct.2	-	1	534	c.455C>G	c.(454-456)TCC>TGC	p.S152C	DUSP7_uc010hma.2_Missense_Mutation_p.S152C	NM_001947	NP_001938	Q16829	DUS7_HUMAN	dual specificity phosphatase 7	152	Rhodanese.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCGAGCACGGAGGCGGGAGC	0.721		NaN											0	0	0	0.004672	0	3	4				
PBRM1	55193	broad.mit.edu	37	3	52598157	52598157	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:52598157T>C	uc003des.2	-	23	3796	c.3784A>G	c.(3784-3786)AAT>GAT	p.N1262D	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N1262D|PBRM1_uc003der.2_Missense_Mutation_p.N1230D|PBRM1_uc003det.2_Missense_Mutation_p.N1277D|PBRM1_uc003deu.2_Missense_Mutation_p.N1277D|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N1262D|PBRM1_uc010hmk.1_Missense_Mutation_p.N1237D|PBRM1_uc003dey.2_Missense_Mutation_p.N1237D|PBRM1_uc003dez.1_Missense_Mutation_p.N1261D	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1262	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCGCTCTCATTGTAGCGGCTC	0.413		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	0.010818	0	34	28				
DCP1A	55802	broad.mit.edu	37	3	53346282	53346282	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:53346282C>T	uc003dgs.3	-	5	592	c.499G>A	c.(499-501)GAG>AAG	p.E167K	DCP1A_uc003dgt.3_RNA	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	167					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTCTCATACTCATCCTTGGCT	0.577		NaN											0	0	0	0.008871	0	19	24				
CACNA2D3	55799	broad.mit.edu	37	3	54925415	54925415	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:54925415C>T	uc003dhf.2	+	25	2232	c.2184C>T	c.(2182-2184)CTC>CTT	p.L728L	CACNA2D3_uc003dhg.1_Silent_p.L634L|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	728	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTGCCTTCCTCGGCACTCGCA	0.532		NaN											0	0	0	0.012319	0	20	30				
CCDC66	285331	broad.mit.edu	37	3	56598036	56598036	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:56598036G>A	uc003dhz.2	+	4	514	c.427G>A	c.(427-429)GAA>AAA	p.E143K	CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.E109K|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Missense_Mutation_p.E143K	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	143										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CATCACAGCTGAAAACATGAA	0.393		NaN											0	0	0	0.01892	0	23	29				
PDE12	201626	broad.mit.edu	37	3	57542432	57542432	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:57542432C>T	uc003diw.3	+	1	452	c.326C>T	c.(325-327)TCA>TTA	p.S109L	PDE12_uc003div.2_Missense_Mutation_p.S109L	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	109							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCGGCCTGTTCAGGGCCGGGG	0.657		NaN											0	0	0	0.008871	0	20	12				
PXK	54899	broad.mit.edu	37	3	58368279	58368279	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:58368279G>C	uc003djz.1	+	4	339	c.240G>C	c.(238-240)TTG>TTC	p.L80F	PXK_uc003djx.1_Missense_Mutation_p.L80F|PXK_uc003djy.1_Missense_Mutation_p.L63F|PXK_uc003dka.1_Missense_Mutation_p.L80F|PXK_uc003dkb.1_5'UTR|PXK_uc003dkc.1_Missense_Mutation_p.L63F|PXK_uc011bfe.1_Missense_Mutation_p.L47F|PXK_uc010hnj.1_Missense_Mutation_p.L47F|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	80	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCAAAAAATTGATTGGTAACA	0.343		NaN											0	0	0	0.004482	0	6	48				
GXYLT2	727936	broad.mit.edu	37	3	72957678	72957678	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:72957678G>A	uc003dpg.2	+	2	436	c.436G>A	c.(436-438)GAA>AAA	p.E146K		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	146	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						CATCTTCACTGAAGACTCTCT	0.463		NaN											0	0	0	0.012213	0	29	29				
HTR1F	3355	broad.mit.edu	37	3	88040157	88040157	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:88040157A>G	uc003dqr.2	+	2	416	c.258A>G	c.(256-258)AGA>AGG	p.R86R		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	86	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATATTGTGAGAGAGAGCTGGA	0.468		NaN											0	0	0	0.014758	0	5	79				
OR5H15	403274	broad.mit.edu	37	3	97887646	97887646	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:97887646T>G	uc011bgu.1	+	1	103	c.103T>G	c.(103-105)TAT>GAT	p.Y35D		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTGGTAATATATCTCATCAC	0.408		NaN											0	0	0	0.01441	0	135	141				
DRD3	1814	broad.mit.edu	37	3	113847578	113847578	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:113847578C>G	uc003ebd.2	-	8	1611	c.1188G>C	c.(1186-1188)AAG>AAC	p.K396N	DRD3_uc010hqn.1_Missense_Mutation_p.K396N|DRD3_uc003ebb.1_Missense_Mutation_p.K363N|DRD3_uc003ebc.1_Missense_Mutation_p.K396N	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	396	Cytoplasmic.			K -> L (in Ref. 7; AAH95510).	activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAGACAGGATCTTGAGGAAGG	0.527		NaN											0	0	0	0.01441	0	95	169				
CASR	846	broad.mit.edu	37	3	122003997	122003997	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:122003997G>C	uc003eev.3	+	7	3568	c.3196G>C	c.(3196-3198)GGT>CGT	p.G1066R	CASR_uc003eew.3_Missense_Mutation_p.G1076R	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	1066	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTCATCAGTGGTGGAGGCAG	0.532		NaN											0	0	0	0.016522	0	23	51				
DNAJC13	23317	broad.mit.edu	37	3	132169586	132169586	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:132169586C>G	uc003eor.2	+	6	497	c.432C>G	c.(430-432)ACC>ACG	p.T144T	DNAJC13_uc010htq.1_Silent_p.T144T	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	144							heat shock protein binding			ovary(1)|breast(1)	2						ATCCTGCAACCAACAGAGTAC	0.358		NaN											0	0	0	0.012319	0	21	32				
SMC4	10051	broad.mit.edu	37	3	160137191	160137191	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:160137191A>G	uc003fdh.2	+	12	1830	c.1717A>G	c.(1717-1719)AAA>GAA	p.K573E	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.K337E|SMC4_uc003fdi.2_Missense_Mutation_p.K548E|SMC4_uc003fdj.2_Missense_Mutation_p.K573E|SMC4_uc010hwd.2_Missense_Mutation_p.K573E|SMC4_uc003fdl.2_Missense_Mutation_p.K276E	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	573	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAAACTTTAAAAGTTTGGT	0.308		NaN											0	0	0	0.014323	0	23	55				
TRA2B	6434	broad.mit.edu	37	3	185638917	185638917	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:185638917G>A	uc003fpv.2	-	6	973	c.697C>T	c.(697-699)CGG>TGG	p.R233W	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R133W|TRA2B_uc003fpw.2_Missense_Mutation_p.R233W	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	233	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						TAGTAGTCCCGATCATCATAG	0.428		NaN											0	0	0	0.01441	0	53	39				
TMEM44	93109	broad.mit.edu	37	3	194344402	194344402	+	Missense_Mutation	SNP	C	C	G	rs143204807		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:194344402C>G	uc010hzn.2	-	4	550	c.381G>C	c.(379-381)AAG>AAC	p.K127N	TMEM44_uc003fue.2_Missense_Mutation_p.K127N|TMEM44_uc003fud.2_Missense_Mutation_p.K127N|TMEM44_uc003fuf.2_Missense_Mutation_p.K127N|TMEM44_uc011bsv.1_Missense_Mutation_p.K127N|TMEM44_uc003fuh.1_RNA	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	127	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GCCGCCTCCTCTTCCTCTCTC	0.617		NaN											0	0	0	0.006214	0	10	39				
MUC4	4585	broad.mit.edu	37	3	195517279	195517279	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:195517279G>A	uc011bto.1	-	2	1632	c.1172C>T	c.(1171-1173)TCA>TTA	p.S391L	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S273L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	396					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAACACCTTTGATGTTACCAG	0.453		NaN											0	0	0	0.01441	0	104	86				
TACC3	10460	broad.mit.edu	37	4	1739043	1739043	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:1739043A>G	uc003gdo.2	+	9	1932	c.1824A>G	c.(1822-1824)GCA>GCG	p.A608A	TACC3_uc010ibz.2_Silent_p.A608A|TACC3_uc003gdp.2_Silent_p.A248A|TACC3_uc010ica.2_Silent_p.A25A	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	608						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCTTGGGAGCACTGGACATTC	0.527		NaN											0	0	0	0.00308	0	7	24				
HTT	3064	broad.mit.edu	37	4	3182340	3182340	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:3182340G>T	uc011bvq.1	+	37	4862	c.4717G>T	c.(4717-4719)GTG>TTG	p.V1573L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1571					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAAAGAGGTGGTGGTGTCAAT	0.453		NaN											1	0	1.61788e-16	0.012213	1.71939e-16	35	34				
ZBTB49	166793	broad.mit.edu	37	4	4301680	4301680	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:4301680C>T	uc003ghu.2	+	2	183	c.8C>T	c.(7-9)CCT>CTT	p.P3L	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGCATGGACCCTGTTGCTACC	0.468		NaN											0	0	0	0.009718	0	43	55				
TBC1D14	57533	broad.mit.edu	37	4	6969151	6969151	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:6969151G>A	uc011bwg.1	+	3	922	c.843G>A	c.(841-843)AAG>AAA	p.K281K	TBC1D14_uc003gjs.3_Silent_p.K281K	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	281						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						GAATACAGAAGGTACACAAGA	0.393		NaN											0	0	0	0.016522	0	21	58				
TAPT1	202018	broad.mit.edu	37	4	16164972	16164972	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:16164972C>G	uc010ied.1	-	14	1744	c.1663G>C	c.(1663-1665)GAG>CAG	p.E555Q	TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Missense_Mutation_p.E444Q	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	555						integral to membrane	growth hormone-releasing hormone receptor activity				0						CTGTCTATCTCTAACAAATCT	0.433		NaN											0	0	0	0.012319	0	22	72				
TAPT1	202018	broad.mit.edu	37	4	16175863	16175863	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:16175863C>G	uc010ied.1	-	11	1281	c.1200G>C	c.(1198-1200)CGG>CGC	p.R400R	TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Silent_p.R289R	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	400						integral to membrane	growth hormone-releasing hormone receptor activity				0						AGCCCATCCTCCGTGCTACAG	0.328		NaN											0	0	0	0.014758	0	5	4				
ANAPC4	29945	broad.mit.edu	37	4	25384988	25384988	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:25384988A>G	uc003gro.2	+	4	470	c.341A>G	c.(340-342)CAT>CGT	p.H114R	ANAPC4_uc003grp.2_5'UTR	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	anaphase-promoting complex subunit 4	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5		Breast(46;0.0503)				TCCTGTATGCATTGGATGGAA	0.363		NaN											0	0	0	0.008871	0	18	55				
KLB	152831	broad.mit.edu	37	4	39448239	39448239	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:39448239G>A	uc003gua.2	+	4	1990	c.1893G>A	c.(1891-1893)CTG>CTA	p.L631L	KLB_uc011byj.1_Silent_p.L622L	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	631	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						GTGAGGGGCTGAAGCTTGGCA	0.627		NaN											0	0	0	0.007413	0	20	61				
N4BP2	55728	broad.mit.edu	37	4	40123217	40123217	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:40123217T>C	uc003guy.3	+	9	3824	c.3486T>C	c.(3484-3486)ATT>ATC	p.I1162I	N4BP2_uc010ifq.2_Silent_p.I1082I|N4BP2_uc010ifr.2_Silent_p.I1082I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1162						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGAAAGAAATTATTAGCCAAA	0.378		NaN											0	0	0	0.00632	0	30	73				
YTHDC1	91746	broad.mit.edu	37	4	69182123	69182123	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:69182123T>C	uc003hdx.2	-	16	2221	c.1868A>G	c.(1867-1869)TAT>TGT	p.Y623C	YTHDC1_uc003hdy.2_Missense_Mutation_p.Y605C	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	623	Pro-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						ATGGTGCTGATAGTAAGGATG	0.448		NaN											0	0	0	0.01441	0	68	72				
ANKRD17	26057	broad.mit.edu	37	4	74124115	74124115	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:74124115C>G	uc003hgp.2	-	1	388	c.271G>C	c.(271-273)GAC>CAC	p.D91H	ANKRD17_uc003hgq.2_Missense_Mutation_p.D91H|ANKRD17_uc003hgr.2_Missense_Mutation_p.D91H	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	91					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ttgtcgctgtcgctgctgcTT	0.403		NaN											0	0	0	0.004007	0	14	37				
SHROOM3	57619	broad.mit.edu	37	4	77670237	77670237	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:77670237G>A	uc011cbx.1	+	6	4774	c.3821G>A	c.(3820-3822)GGA>GAA	p.G1274E	SHROOM3_uc003hkg.2_Missense_Mutation_p.G1052E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1274					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GCTGGTCCTGGATCTAGGTAT	0.423		NaN											0	0	0	0.01441	0	66	60				
PTPN13	5783	broad.mit.edu	37	4	87671723	87671723	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:87671723C>T	uc003hpz.2	+	18	3231	c.2751C>T	c.(2749-2751)CTC>CTT	p.L917L	PTPN13_uc003hpy.2_Silent_p.L917L|PTPN13_uc003hqa.2_Silent_p.L917L|PTPN13_uc003hqb.2_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	917						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGCACCCTCAACAAACTTG	0.478		NaN											0	0	0	0.007291	0	30	91				
BANK1	55024	broad.mit.edu	37	4	102946407	102946407	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:102946407G>A	uc003hvy.3	+	9	1609	c.1335G>A	c.(1333-1335)CAG>CAA	p.Q445Q	BANK1_uc003hvx.3_Silent_p.Q430Q|BANK1_uc010ill.2_Silent_p.Q312Q|BANK1_uc003hvz.3_Silent_p.Q415Q	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	445					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CATACGGGCAGAGTGCAGATG	0.463		NaN											0	0	0	0.016522	0	25	64				
SEC24D	9871	broad.mit.edu	37	4	119678896	119678896	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:119678896G>T	uc003ici.3	-	11	1673	c.1401C>A	c.(1399-1401)ACC>ACA	p.T467T	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.T468T|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	467					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						TTTCCAGCATGGTCTTCAGTT	0.358		NaN											1	0	2.20262e-25	0.013726	2.41176e-25	33	26				
PCDH10	57575	broad.mit.edu	37	4	134071531	134071531	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:134071531T>C	uc003iha.2	+	1	1062	c.236T>C	c.(235-237)ATA>ACA	p.I79T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.I79T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	79	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AACGAGAAAATAGACCGCGAA	0.552		NaN											0	0	0	0.005443	0	28	68				
OTUD4	54726	broad.mit.edu	37	4	146071800	146071800	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:146071800G>C	uc003ika.3	-	13	1067	c.929C>G	c.(928-930)TCA>TGA	p.S310*	OTUD4_uc003ijz.3_Nonsense_Mutation_p.S309*	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	374							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AGGTAGTGCTGATGGGGCTTT	0.423		NaN											0	0	0	0.004007	0	16	70				
TRIM2	23321	broad.mit.edu	37	4	154216911	154216911	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:154216911C>T	uc003ing.2	+	6	1353	c.1152C>T	c.(1150-1152)AAC>AAT	p.N384N	TRIM2_uc003inh.2_Silent_p.N411N	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	384	Filamin.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TCCTGGACAACAAGAACGGCA	0.567		NaN											0	0	0	0.004007	0	15	27				
DCHS2	54798	broad.mit.edu	37	4	155156345	155156345	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:155156345C>G	uc003inw.2	-	25	8094	c.8094G>C	c.(8092-8094)GTG>GTC	p.V2698V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2698					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCGGCAGTCACCATCACAT	0.552		NaN											0	0	0	0.012319	0	23	39				
CTSO	1519	broad.mit.edu	37	4	156850779	156850779	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:156850779T>C	uc003ipg.2	-	6	802	c.753A>G	c.(751-753)CAA>CAG	p.Q251Q		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	251					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCAGATAATCTTGCCAGCTCA	0.413		NaN											0	0	0	0.004007	0	16	46				
ADCY2	108	broad.mit.edu	37	5	7707855	7707855	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:7707855G>C	uc003jdz.1	+	9	1372	c.1305G>C	c.(1303-1305)TTG>TTC	p.L435F	ADCY2_uc011cmo.1_Missense_Mutation_p.L255F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	435	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TGGAGCACTTGAATGGCGCTT	0.408		NaN											0	0	0	0.01441	0	90	56				
SEMA5A	9037	broad.mit.edu	37	5	9119187	9119187	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:9119187C>T	uc003jek.2	-	15	2560	c.1848G>A	c.(1846-1848)CAG>CAA	p.Q616Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	616	TSP type-1 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GCTGCCGCACCTGGAAGCCGA	0.652		NaN											0	0	0	0.00308	0	6	12				
WDR70	55100	broad.mit.edu	37	5	37379640	37379640	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:37379640G>A	uc003jkv.2	+	2	133	c.75G>A	c.(73-75)ATG>ATA	p.M25I	WDR70_uc010iva.1_Missense_Mutation_p.M25I	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	25										ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGTCACCATGGGCTTCACGG	0.622		NaN											0	0	0	0.007291	0	30	40				
SFRS12	140890	broad.mit.edu	37	5	65474672	65474672	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:65474672C>G	uc003juo.2	+	13	2163	c.1503C>G	c.(1501-1503)CTC>CTG	p.L501L	SFRS12_uc003jun.2_Silent_p.L617L|SFRS12_uc010iwy.2_Silent_p.L500L	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	501					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		AAGAAAACCTCTCTACCAAAA	0.398		NaN											0	0	0	0.014323	0	22	51				
BDP1	55814	broad.mit.edu	37	5	70818196	70818196	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:70818196G>A	uc003kbp.1	+	23	5335	c.5072G>A	c.(5071-5073)AGA>AAA	p.R1691K	BDP1_uc003kbo.2_Missense_Mutation_p.R1691K|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1691					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATTTGGGAAGAGCACACAGT	0.398		NaN											0	0	0	0.01441	0	80	65				
EPB41L4A	64097	broad.mit.edu	37	5	111601977	111601977	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:111601977G>A	uc003kpv.1	-	5	660	c.386C>T	c.(385-387)CCC>CTC	p.P129L	EPB41L4A_uc003kpw.1_Missense_Mutation_p.P129L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	129	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GACGGGACAGGGCAGACGGCC	0.453		NaN											0	0	0	0.014758	0	5	6				
SRP19	6728	broad.mit.edu	37	5	112228423	112228423	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:112228423G>A	uc011cvv.1	+	4	1417	c.1162G>A	c.(1162-1164)GGC>AGC	p.G388S	SRP19_uc011cvu.1_Missense_Mutation_p.G373S|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		CTCCTCCTTTGGCAAGAACTC	0.493		NaN											0	0	0	0.00499	0	18	44				
P4HA2	8974	broad.mit.edu	37	5	131530659	131530659	+	Silent	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:131530659T>A	uc003kwh.2	-	14	2061	c.1497A>T	c.(1495-1497)ACA>ACT	p.T499T	P4HA2_uc003kwg.2_Silent_p.T497T|P4HA2_uc003kwi.2_Silent_p.T497T|P4HA2_uc003kwk.2_Silent_p.T497T|P4HA2_uc003kwl.2_Silent_p.T499T|P4HA2_uc003kwj.2_Silent_p.T497T	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	499	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CAGCATGTCTTGTTCGGTAGT	0.532		NaN											0	0	0	0.010504	0	21	49				
KDM3B	51780	broad.mit.edu	37	5	137750823	137750823	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:137750823A>G	uc003lcy.1	+	12	3402	c.3202A>G	c.(3202-3204)ACA>GCA	p.T1068A	KDM3B_uc010jew.1_Missense_Mutation_p.T724A|KDM3B_uc011cys.1_Missense_Mutation_p.T100A	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1068					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TATTTCAGAGACAGAAGAGAT	0.413		NaN											0	0	0	0.010729	0	10	37				
PCDHB7	56129	broad.mit.edu	37	5	140553173	140553173	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140553173G>A	uc003lit.2	+	1	931	c.757G>A	c.(757-759)GAA>AAA	p.E253K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	253	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTGCCCGAAAATAGCCC	0.517		NaN											0	0	0	0.016522	0	22	63				
PCDHGA2	56113	broad.mit.edu	37	5	140720625	140720625	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140720625C>T	uc003ljk.1	+	1	2272	c.2087C>T	c.(2086-2088)GCG>GTG	p.A696V	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.A696V|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	696	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672		NaN											0	0	0	0.001168	0	6	151				
SLC6A7	6534	broad.mit.edu	37	5	149588987	149588987	+	Missense_Mutation	SNP	C	C	T	rs144483863	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:149588987C>T	uc003lrr.2	+	14	2091	c.1720C>T	c.(1720-1722)CGG>TGG	p.R574W		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	574	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	ACAGGCCAGCCGGCCGGCCAT	0.622		NaN											0	0	0	0.004007	0	15	44				
ANXA6	309	broad.mit.edu	37	5	150483166	150483166	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:150483166C>T	uc003ltl.1	-	25	2079	c.1927G>A	c.(1927-1929)GAG>AAG	p.E643K	ANXA6_uc011dcp.1_Missense_Mutation_p.E611K|ANXA6_uc003ltm.1_Missense_Mutation_p.E637K|ANXA6_uc003ltn.1_Missense_Mutation_p.E430K|ANXA6_uc003lto.1_Missense_Mutation_p.E230K	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	643	Annexin 8.					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATATTTCTCAATGAATTCC	0.507		NaN											0	0	0	0.001984	0	7	15				
EBF1	1879	broad.mit.edu	37	5	158223455	158223455	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:158223455C>T	uc010jip.2	-	9	1109	c.807G>A	c.(805-807)CCG>CCA	p.P269P	EBF1_uc011ddw.1_Silent_p.P137P|EBF1_uc011ddx.1_Silent_p.P270P|EBF1_uc003lxl.3_Silent_p.P238P	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	269	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTCACTCGGGCTGATGG	0.463		NaN	T	HMGA2	lipoma								0	0	0	0.008361	0	30	7				
F12	2161	broad.mit.edu	37	5	176831360	176831360	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:176831360C>T	uc003mgo.3	-	9	904	c.855G>A	c.(853-855)CTG>CTA	p.L285L	F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	285	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCCAGCTCAGCCGGTCGC	0.697		NaN							Hereditary_Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006122	0	19	4				
TRIM38	10475	broad.mit.edu	37	6	25967107	25967107	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:25967107A>G	uc003nfm.2	+	3	792	c.357A>G	c.(355-357)CCA>CCG	p.P119P	TRIM38_uc003nfn.2_Silent_p.P119P	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	119	B box-type.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						AGCGGGCACCACAGCACAAAG	0.557		NaN											0	0	0	0.00245	0	13	81				
HIST1H4D	8360	broad.mit.edu	37	6	26189297	26189297	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:26189297C>G	uc003ngu.2	-	1	8	c.8G>C	c.(7-9)GGC>GCC	p.G3A		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	3					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				CTTACCGCGGCCAGACATCTT	0.512		NaN											0	0	0	0.01441	0	82	39				
PGBD1	84547	broad.mit.edu	37	6	28265744	28265744	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:28265744G>A	uc003nky.2	+	6	1215	c.845G>A	c.(844-846)GGA>GAA	p.G282E	PGBD1_uc003nkz.2_Missense_Mutation_p.G282E	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	282					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						GAACAAAGTGGAGAAGCCTCA	0.353		NaN											0	0	0	0.004482	0	9	76				
MDC1	9656	broad.mit.edu	37	6	30673833	30673833	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:30673833G>A	uc003nrg.3	-	10	3567	c.3127C>T	c.(3127-3129)CCT>TCT	p.P1043S	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P650S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1043	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GGGGCTTCAGGTACTGTAGGA	0.532		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.013114	0	46	36				
B3GALT4	8705	broad.mit.edu	37	6	33246314	33246314	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:33246314T>A	uc003odr.2	+	1	1398	c.1118T>A	c.(1117-1119)ATA>AAA	p.I373K		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	373	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						TGTCGAGCAATAGCCTGGCTT	0.637		NaN											0	0	0	0.008871	0	19	121				
ITPR3	3710	broad.mit.edu	37	6	33636829	33636829	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:33636829G>T	uc011drk.1	+	18	2304	c.2085G>T	c.(2083-2085)ACG>ACT	p.T695T		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	695	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TGTGGCTCACGTGGACTGACA	0.587		NaN											1	0	8.34094e-07	0.008871	8.62746e-07	21	83				
UHRF1BP1	54887	broad.mit.edu	37	6	34791100	34791100	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:34791100C>A	uc003oju.3	+	4	547	c.313C>A	c.(313-315)CCC>ACC	p.P105T	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	105										ovary(3)	3						TGGACAGTCTCCCATTGCCCT	0.413		NaN											1	0	1.19451e-25	0.01441	1.31058e-25	46	211				
C6orf222	389384	broad.mit.edu	37	6	36287297	36287297	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:36287297C>G	uc003oly.2	-	11	1937	c.1759G>C	c.(1759-1761)GCT>CCT	p.A587P		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	587										skin(2)|ovary(1)|breast(1)	4						GAGGAGTGAGCCACCTGGCTG	0.552		NaN											0	0	0	0.01441	0	74	24				
STK38	11329	broad.mit.edu	37	6	36492140	36492140	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:36492140A>G	uc003omg.2	-	3	872	c.284T>C	c.(283-285)ATA>ACA	p.I95T	STK38_uc003omh.2_Missense_Mutation_p.I95T|STK38_uc003omi.2_Missense_Mutation_p.I95T	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	95	Protein kinase.|ATP (By similarity).				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						TCCTCTGCCTATTACTTTTAA	0.378		NaN											0	0	0	0.01441	0	96	24				
TBC1D22B	55633	broad.mit.edu	37	6	37280749	37280749	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:37280749C>T	uc003onn.2	+	9	1184	c.1038C>T	c.(1036-1038)AGC>AGT	p.S346S	TBC1D22B_uc010jwt.2_RNA|TBC1D22B_uc003ono.1_Silent_p.S4S|TBC1D22B_uc003onp.2_Silent_p.S4S	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	346	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TGCTGCGAAGCATTGAGGCTG	0.478		NaN											0	0	0	0.01441	0	98	20				
CD2AP	23607	broad.mit.edu	37	6	47512341	47512341	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:47512341G>A	uc003oyw.2	+	4	776	c.320_splice	c.e4-1	p.K107_splice		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACTTTCTTTAGAGACCAAGAA	0.289		NaN											0	0	0	0.004007	0	17	84				
GPR115	221393	broad.mit.edu	37	6	47682609	47682609	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:47682609A>G	uc003oza.1	+	6	1886	c.1628A>G	c.(1627-1629)TAC>TGC	p.Y543C	GPR115_uc003oyz.1_Missense_Mutation_p.Y600C|GPR115_uc003ozb.1_Missense_Mutation_p.Y541C	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	543	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						GAGAAAGGCTACATGAGACCT	0.483		NaN											0	0	0	0.01441	0	147	84				
DDX43	55510	broad.mit.edu	37	6	74104758	74104758	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:74104758A>G	uc003pgw.2	+	1	474	c.130A>G	c.(130-132)AGT>GGT	p.S44G	OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_RNA	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	44						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						TGAGGGATATAGTGTCGGCAG	0.627		NaN									OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.01441	0	67	22				
IRAK1BP1	134728	broad.mit.edu	37	6	79577521	79577521	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:79577521C>T	uc003pim.2	+	1	333	c.228C>T	c.(226-228)AGC>AGT	p.S76S	IRAK1BP1_uc010kbg.1_RNA	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	76	Intrinsically disordered.				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		GAGTGAGCAGCACCAAGGAGG	0.627		NaN											0	0	0	0.007413	0	19	4				
BACH2	60468	broad.mit.edu	37	6	90660532	90660532	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:90660532C>T	uc011eab.1	-	7	2102	c.1293G>A	c.(1291-1293)GTG>GTA	p.V431V	BACH2_uc003pnw.2_Silent_p.V431V|BACH2_uc010kch.2_Silent_p.V431V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	431						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGGAGAAGATCACGCTCCTCC	0.592		NaN											0	0	0	0.01441	0	59	14				
ASCC3	10973	broad.mit.edu	37	6	101037582	101037582	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:101037582A>T	uc003pqk.2	-	36	5807	c.5478T>A	c.(5476-5478)CAT>CAA	p.H1826Q		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1826	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAACTGTTTGATGCTTCAAAT	0.348		NaN											0	0	0	0.01441	0	89	36				
BEND3	57673	broad.mit.edu	37	6	107390828	107390828	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:107390828C>T	uc003prs.2	-	5	2217	c.1567G>A	c.(1567-1569)GGT>AGT	p.G523S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	523										ovary(3)	3						GAGCGGCGACCCGGCCGCTCG	0.637		NaN											0	0	0	0.005443	0	26	9				
REV3L	5980	broad.mit.edu	37	6	111714085	111714085	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:111714085A>G	uc003puy.3	-	5	979	c.656T>C	c.(655-657)ATA>ACA	p.I219T	REV3L_uc003pux.3_Missense_Mutation_p.I141T|REV3L_uc003puz.3_Missense_Mutation_p.I141T	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	219					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAACCTTGGTATTTCATCTTG	0.313		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.006999	0	40	17				
NCOA7	135112	broad.mit.edu	37	6	126236524	126236524	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:126236524C>G	uc010kes.2	+	13	2591	c.2142C>G	c.(2140-2142)GTC>GTG	p.V714V	NCOA7_uc003qae.3_Silent_p.V714V|NCOA7_uc003qah.2_Silent_p.V703V|NCOA7_uc003qai.2_Silent_p.V714V|NCOA7_uc010ket.2_Silent_p.V599V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	714					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CTCCCGATGTCTATGGAAAAG	0.453		NaN											0	0	0	0.01441	0	81	28				
TMEM181	57583	broad.mit.edu	37	6	159052852	159052852	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:159052852G>A	uc003qrm.3	+	17	1782	c.1771G>A	c.(1771-1773)GAG>AAG	p.E591K		NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	591					pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GAGTGACTATGAGGAAATGCC	0.537		NaN											0	0	0	0.001168	0	6	4				
FNDC1	84624	broad.mit.edu	37	6	159657323	159657323	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:159657323C>G	uc010kjv.2	+	12	4244	c.4044C>G	c.(4042-4044)ATC>ATG	p.I1348M	FNDC1_uc010kjw.1_Missense_Mutation_p.I1233M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1348						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAGAATTATCAATGGCCCTC	0.393		NaN											0	0	0	0.004007	0	16	19				
FBXL18	80028	broad.mit.edu	37	7	5529800	5529800	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:5529800A>T	uc003soo.2	-	5	2138	c.2044T>A	c.(2044-2046)TTG>ATG	p.L682M	FBXL18_uc003son.3_Intron	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	682										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TCTTCTCGCAACTCTGTGAAC	0.647		NaN											0	0	0	0.00499	0	16	24				
ICA1	3382	broad.mit.edu	37	7	8198209	8198209	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:8198209A>T	uc003srm.2	-	7	720	c.653T>A	c.(652-654)CTT>CAT	p.L218H	ICA1_uc010ktr.2_Missense_Mutation_p.L218H|ICA1_uc003srl.2_Missense_Mutation_p.L206H|ICA1_uc003srn.3_Missense_Mutation_p.L144H|ICA1_uc003srp.3_Missense_Mutation_p.L217H|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L218H|ICA1_uc003srr.2_Missense_Mutation_p.L217H|ICA1_uc003sro.3_Missense_Mutation_p.L218H|ICA1_uc011jxg.1_Missense_Mutation_p.L218H|ICA1_uc003srs.1_Missense_Mutation_p.L218H	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	218	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.L218F(1)		central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CGCTCCAAGAAGATCCACTTT	0.373		NaN											0	0	0	0.01441	0	58	80				
ISPD	729920	broad.mit.edu	37	7	16415851	16415851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:16415851G>A	uc010ktx.2	-	3	550	c.550C>T	c.(550-552)CGA>TGA	p.R184*	ISPD_uc010kty.2_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	notch1-induced protein isoform a	184					isoprenoid biosynthetic process		nucleotidyltransferase activity			ovary(1)	1						ACAAGAGGTCGAATGGCTCCT	0.433		NaN								Multiple Myeloma(15;0.18)			0	0	0	0.008291	0	8	47				
NFE2L3	9603	broad.mit.edu	37	7	26225326	26225326	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:26225326G>A	uc003sxq.2	+	4	2280	c.2008G>A	c.(2008-2010)GGA>AGA	p.G670R		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	670					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						TACCCATGATGGAAGTATCTT	0.423		NaN											0	0	0	0.01441	0	56	88				
AKAP9	10142	broad.mit.edu	37	7	91712680	91712680	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:91712680T>G	uc003ulg.2	+	33	8582	c.8357T>G	c.(8356-8358)CTG>CGG	p.L2786R	AKAP9_uc003ulf.2_Missense_Mutation_p.L2778R|AKAP9_uc003uli.2_Missense_Mutation_p.L2409R|AKAP9_uc003ulj.2_Missense_Mutation_p.L556R|AKAP9_uc003ulk.2_Missense_Mutation_p.L61R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2798					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATGGGACTCTGAAGATCAGT	0.393		NaN	T	BRAF	papillary thyroid								0	0	0	0.004878	0	37	54				
PEX1	5189	broad.mit.edu	37	7	92118691	92118691	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:92118691G>A	uc003uly.2	-	23	3779	c.3683C>T	c.(3682-3684)GCT>GTT	p.A1228V	PEX1_uc011khr.1_Missense_Mutation_p.A1020V|PEX1_uc010ley.2_Missense_Mutation_p.A1171V|PEX1_uc011khs.1_Missense_Mutation_p.A906V	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	1228					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTGACTAATAGCCAGTCTGGT	0.363		NaN											0	0	0	0.00499	0	18	24				
TRRAP	8295	broad.mit.edu	37	7	98495469	98495469	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:98495469G>C	uc003upp.2	+	8	822	c.613G>C	c.(613-615)GAG>CAG	p.E205Q	TRRAP_uc011kis.1_Missense_Mutation_p.E205Q|TRRAP_uc003upr.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	205					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCGGAGCGTGAGGACAGTGA	0.468		NaN											0	0	0	0.016522	0	23	118				
SYPL1	6856	broad.mit.edu	37	7	105752637	105752637	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:105752637G>A	uc003vdp.2	-	2	154	c.72C>T	c.(70-72)ATC>ATT	p.I24I	SYPL1_uc003vdo.2_Silent_p.I6I	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	24	Cytoplasmic (Potential).				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						GGTTGAGGTTGATCTGGAAGC	0.507		NaN											0	0	0	0.013537	0	10	13				
COG5	10466	broad.mit.edu	37	7	107194757	107194757	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:107194757G>C	uc003ved.2	-	3	883	c.358C>G	c.(358-360)CAA>GAA	p.Q120E	COG5_uc003vec.2_Missense_Mutation_p.Q120E|COG5_uc003vee.2_Missense_Mutation_p.Q120E	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	120					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CCAGTTGCTTGTGCCAGTAAA	0.299		NaN											0	0	0	0.012319	0	20	27				
UBE3C	9690	broad.mit.edu	37	7	156979626	156979626	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:156979626G>T	uc010lqs.2	+	10	1554	c.1242G>T	c.(1240-1242)AGG>AGT	p.R414S	UBE3C_uc003wnf.2_Missense_Mutation_p.R371S|UBE3C_uc003wng.2_Missense_Mutation_p.R414S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	414					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGGTGTGGAGGGACTCTGCGA	0.562		NaN											1	0	0.00909568	0.009096	0.00914631	4	46				
PPP1R3B	79660	broad.mit.edu	37	8	8998903	8998903	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:8998903C>G	uc003wsn.3	-	2	424	c.259G>C	c.(259-261)GAT>CAT	p.D87H	PPP1R3B_uc003wso.3_Missense_Mutation_p.D86H	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	87					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AATGGCATATCTAGCGGGTCA	0.517		NaN											0	0	0	0.004878	0	36	66				
PPP3CC	5533	broad.mit.edu	37	8	22355531	22355531	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:22355531G>T	uc003xbs.2	+	4	717	c.390G>T	c.(388-390)TGG>TGT	p.W130C	PPP3CC_uc003xbr.1_Missense_Mutation_p.W130C|PPP3CC_uc011kzi.1_Missense_Mutation_p.W130C|PPP3CC_uc003xbt.2_Missense_Mutation_p.W130C	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	130					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATTTATGGAGTTTAAAGA	0.249		NaN											1	0	1.49906e-05	0.00245	1.54466e-05	13	23				
FGFR1	2260	broad.mit.edu	37	8	38279401	38279401	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:38279401G>A	uc003xlp.2	-	8	1937	c.995C>T	c.(994-996)TCC>TTC	p.S332F	FGFR1_uc011lbo.1_Missense_Mutation_p.S330F|FGFR1_uc011lbp.1_Missense_Mutation_p.S243F|FGFR1_uc011lbq.1_Missense_Mutation_p.S241F|FGFR1_uc010lwk.2_Missense_Mutation_p.S324F|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.S172F|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.S363F|FGFR1_uc011lbv.1_Missense_Mutation_p.S330F|FGFR1_uc011lbw.1_Missense_Mutation_p.S243F|FGFR1_uc011lbx.1_Missense_Mutation_p.S243F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	332	Ig-like C2-type 3.|Extracellular (Potential).		S -> C (in KAL2).		axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GTCCTCAAAGGAGACATTTCT	0.488		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						0	0	0	0.004482	0	9	37				
PRKDC	5591	broad.mit.edu	37	8	48771464	48771464	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:48771464C>T	uc003xqi.2	-	48	6348	c.6291G>A	c.(6289-6291)CTG>CTA	p.L2097L	PRKDC_uc003xqj.2_Silent_p.L2097L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2097					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGGGCCGTCAGGGGCGCCA	0.577		NaN						NHEJ					0	0	0	0.009096	0	4	83				
CHD7	55636	broad.mit.edu	37	8	61749497	61749497	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:61749497T>G	uc003xue.2	+	17	4588	c.4111T>G	c.(4111-4113)TTA>GTA	p.L1371V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1371	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCAGGAGGTTTAGGCATTAA	0.488		NaN											0	0	0	0.010818	0	33	95		Valid		
UQCRB	7381	broad.mit.edu	37	8	97244136	97244136	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:97244136C>T	uc003yhq.3	-	3	228	c.124G>A	c.(124-126)GAA>AAA	p.E42K	UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA	NM_006294	NP_006285	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding	42					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			ovary(1)	1	Breast(36;5.16e-05)					TTTACATCTTCATCCTCGTAT	0.363		NaN											0	0	0	0.009535	0	32	35				
RIMS2	9699	broad.mit.edu	37	8	104897639	104897639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:104897639C>G	uc003yls.2	+	2	387	c.146C>G	c.(145-147)TCA>TGA	p.S49*	RIMS2_uc003ylp.2_Nonsense_Mutation_p.S271*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.S79*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.S79*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.S79*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	302					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATCTCCATCAGATTATGCT	0.418		NaN								HNSCC(12;0.0054)			0	0	0	0.008871	0	19	55				
ADCY8	114	broad.mit.edu	37	8	131896844	131896844	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:131896844G>A	uc003ytd.3	-	8	2331	c.2075C>T	c.(2074-2076)TCA>TTA	p.S692L	ADCY8_uc010mds.2_Missense_Mutation_p.S692L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	692	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAACATCAGTGAGAATGGCTT	0.458		NaN								HNSCC(32;0.087)			0	0	0	0.013114	0	47	71				
PLEC	5339	broad.mit.edu	37	8	144992514	144992514	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:144992514C>G	uc003zaf.1	-	32	12056	c.11886G>C	c.(11884-11886)CAG>CAC	p.Q3962H	PLEC_uc003zab.1_Missense_Mutation_p.Q3825H|PLEC_uc003zac.1_Missense_Mutation_p.Q3829H|PLEC_uc003zad.2_Missense_Mutation_p.Q3825H|PLEC_uc003zae.1_Missense_Mutation_p.Q3793H|PLEC_uc003zag.1_Missense_Mutation_p.Q3803H|PLEC_uc003zah.2_Missense_Mutation_p.Q3811H|PLEC_uc003zaj.2_Missense_Mutation_p.Q3852H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3962	Globular 2.|Plectin 20.				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						GGTAGCCACGCTGGTAAGCCA	0.682		NaN											0	0	0	0.004672	0	3	5				
CYC1	1537	broad.mit.edu	37	8	145152190	145152190	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:145152190A>G	uc003zaz.3	+	7	972	c.929A>G	c.(928-930)AAG>AGG	p.K310R	CYC1_uc003zay.2_Missense_Mutation_p.K251R	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	310					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGCGGCACAAGTGGTCAGTC	0.582		NaN											0	0	0	0.006122	0	19	25				
RANBP6	26953	broad.mit.edu	37	9	6014801	6014801	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:6014801C>T	uc003zjr.2	-	1	818	c.807G>A	c.(805-807)TTG>TTA	p.L269L	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	269					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACTTCAAACTCAACTGTAGAG	0.448		NaN											0	0	0	0.017118	0	37	59				
KDM4C	23081	broad.mit.edu	37	9	6893118	6893118	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:6893118C>T	uc003zkh.2	+	8	1387	c.807C>T	c.(805-807)TTC>TTT	p.F269F	KDM4C_uc010mhu.2_Silent_p.F291F|KDM4C_uc010mhw.2_Silent_p.F269F|KDM4C_uc011lmi.1_Silent_p.F269F|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.F269F|KDM4C_uc011lmk.1_Silent_p.F88F	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	269	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						CTGGAGAATTCATGATCACTT	0.338		NaN											0	0	0	0.01441	0	48	56				
PTPRD	5789	broad.mit.edu	37	9	8460538	8460538	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:8460538C>T	uc003zkk.2	-	32	4459	c.3748G>A	c.(3748-3750)GTG>ATG	p.V1250M	PTPRD_uc003zkp.2_Missense_Mutation_p.V839M|PTPRD_uc003zkq.2_Missense_Mutation_p.V839M|PTPRD_uc003zkr.2_Missense_Mutation_p.V834M|PTPRD_uc003zks.2_Missense_Mutation_p.V829M|PTPRD_uc003zkl.2_Missense_Mutation_p.V1241M|PTPRD_uc003zkm.2_Missense_Mutation_p.V1237M|PTPRD_uc003zkn.2_Missense_Mutation_p.V839M|PTPRD_uc003zko.2_Missense_Mutation_p.V836M	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1250	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTGACACCACGGGGTCGGAG	0.433		NaN								TSP Lung(15;0.13)			0	0	0	0.012319	0	20	37				
MPDZ	8777	broad.mit.edu	37	9	13109990	13109990	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:13109990G>C	uc010mhy.2	-	43	5867	c.5816C>G	c.(5815-5817)ACT>AGT	p.T1939S	MPDZ_uc003zkx.3_Missense_Mutation_p.T163S|MPDZ_uc003zky.3_Missense_Mutation_p.T502S|MPDZ_uc010mib.2_Missense_Mutation_p.T673S|MPDZ_uc010mhx.2_Missense_Mutation_p.T790S|MPDZ_uc011lmm.1_Missense_Mutation_p.T827S|MPDZ_uc003zkz.3_Missense_Mutation_p.T661S|MPDZ_uc010mhz.2_Missense_Mutation_p.T1935S|MPDZ_uc011lmn.1_Missense_Mutation_p.T1906S|MPDZ_uc003zlb.3_Missense_Mutation_p.T1939S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1968					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CGTCAGCCCAGTGAAAGAAAG	0.453		NaN											0	0	0	0.010729	0	12	22				
NFIB	4781	broad.mit.edu	37	9	14307393	14307393	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:14307393C>T	uc003zle.2	-	2	592	c.157G>A	c.(157-159)GAA>AAA	p.E53K	NFIB_uc003zlf.2_Missense_Mutation_p.E53K|NFIB_uc011lmo.1_Missense_Mutation_p.E53K	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	53	CTF/NF-I.				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GCTCTTTCTTCATCCTTTGAC	0.448		NaN	T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								0	0	0	0.001984	0	7	66				
DNAJB5	25822	broad.mit.edu	37	9	34997058	34997058	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:34997058C>A	uc003zvt.2	+	4	987	c.849C>A	c.(847-849)ATC>ATA	p.I283I	DNAJB5_uc003zvs.2_Silent_p.I317I|DNAJB5_uc011los.1_Silent_p.I355I	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	283					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCCCACTATCGACGGCCGAG	0.557		NaN											1	0	1.41504e-22	0.011902	1.54006e-22	41	199				
C9orf85	138241	broad.mit.edu	37	9	74526714	74526714	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:74526714T>A	uc004ain.2	+	1	292	c.64T>A	c.(64-66)TTC>ATC	p.F22I	C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	NM_182505	NP_872311	Q96MD7	CI085_HUMAN	hypothetical protein LOC138241	22											0						TACGTTTAGCTTCAAAAATGA	0.532		NaN											0	0	0	0.008361	0	32	150				
ALDH1A1	216	broad.mit.edu	37	9	75533668	75533668	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:75533668T>G	uc004ajd.2	-	8	871	c.818A>C	c.(817-819)AAG>ACG	p.K273T	ALDH1A1_uc011lsh.1_Missense_Mutation_p.K194T|ALDH1A1_uc011lsg.1_Missense_Mutation_p.K99T	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	273					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GCAAGGGCTCTTTCCTCCAAG	0.468		NaN											0	0	0	0.017118	0	35	63				
GKAP1	80318	broad.mit.edu	37	9	86395319	86395319	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:86395319T>C	uc004amy.2	-	7	1059	c.563A>G	c.(562-564)GAT>GGT	p.D188G	GKAP1_uc004amz.2_Missense_Mutation_p.D188G|GKAP1_uc011lsu.1_RNA	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1 isoform a	188					signal transduction	Golgi apparatus					0						ACTAATGTGATCTGTAAATGA	0.244		NaN											0	0	0	0.016723	0	13	40				
ZCCHC6	79670	broad.mit.edu	37	9	88967636	88967636	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:88967636G>C	uc004aoq.2	-	2	694	c.479C>G	c.(478-480)ACA>AGA	p.T160R	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aou.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aov.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aow.2_Missense_Mutation_p.T160R|ZCCHC6_uc010mqf.1_Missense_Mutation_p.T160R	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	160					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						TTCTAGGCTTGTTAGGTCTTT	0.408		NaN											0	0	0	0.01441	0	52	126				
SECISBP2	79048	broad.mit.edu	37	9	91963047	91963047	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:91963047G>A	uc004aqj.1	+	12	1736	c.1656G>A	c.(1654-1656)GTG>GTA	p.V552V	SECISBP2_uc011ltk.1_Silent_p.V551V|SECISBP2_uc004aqk.1_Silent_p.V479V|SECISBP2_uc010mqo.1_Silent_p.V257V|SECISBP2_uc011ltl.1_Silent_p.V484V	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	552					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						AAAATGCTGTGAGTCCAGCTT	0.388		NaN											0	0	0	0.016723	0	14	59				
FANCC	2176	broad.mit.edu	37	9	97887396	97887396	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:97887396A>C	uc004avh.2	-	10	1230	c.968T>G	c.(967-969)GTA>GGA	p.V323G	FANCC_uc004avi.3_Missense_Mutation_p.V323G|uc004avj.2_5'Flank	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	323					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				CAGAGCTTCTACAAAGCACTG	0.438		NaN	D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.009096	0	4	35				
TRIM14	9830	broad.mit.edu	37	9	100862212	100862212	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:100862212C>T	uc004ayd.2	-	3	555	c.537_splice	c.e3+1	p.Q179_splice	TRIM14_uc004ayf.1_Splice_Site_p.Q86_splice|TRIM14_uc004ayg.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayh.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayi.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayj.1_Splice_Site_p.Q86_splice	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha							cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CCCAGCATTACCTGAAGCCTC	0.502		NaN											0	0	0	0.005443	0	29	21				
OR13C2	392376	broad.mit.edu	37	9	107367139	107367139	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:107367139A>G	uc011lvq.1	-	1	770	c.770T>C	c.(769-771)TTC>TCC	p.F257S		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CATGTACATGAAGAGGATGGT	0.438		NaN											0	0	0	0.010818	0	34	89				
SVEP1	79987	broad.mit.edu	37	9	113171084	113171084	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:113171084T>C	uc010mtz.2	-	38	7133	c.6796A>G	c.(6796-6798)AAA>GAA	p.K2266E	SVEP1_uc010mty.2_Missense_Mutation_p.K192E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2266	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GGGGGAGGTTTTCCACAGTCG	0.488		NaN											0	0	0	0.005524	0	37	123				
KIAA0368	23392	broad.mit.edu	37	9	114246813	114246813	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:114246813G>T	uc004bfe.1	-	2	100	c.100C>A	c.(100-102)CAG>AAG	p.Q34K	KIAA0368_uc010muc.1_5'Flank	NM_001080398	NP_001073867			KIAA0368 protein												0						GGAGGTGGCTGGTGCTCCCAA	0.622		NaN											1	0	1.06961e-07	0.00308	1.11059e-07	8	22				
CDK5RAP2	55755	broad.mit.edu	37	9	123163060	123163060	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:123163060G>A	uc004bkf.2	-	35	5592	c.5411C>T	c.(5410-5412)TCA>TTA	p.S1804L	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.S813L|CDK5RAP2_uc004bke.2_Missense_Mutation_p.S1089L|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.S1725L|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc011lya.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.S1574L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1804	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CTCGGGGAGTGAGACTCTCCA	0.587		NaN											0	0	0	0.006999	0	41	45				
RC3H2	54542	broad.mit.edu	37	9	125613386	125613386	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:125613386C>G	uc010mwc.1	-	20	3595	c.3354G>C	c.(3352-3354)CAG>CAC	p.Q1118H	uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	1118						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						CACCTAAACTCTGTTTCTTCT	0.383		NaN											0	0	0	0.01441	0	46	147				
TBC1D13	54662	broad.mit.edu	37	9	131568173	131568173	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131568173C>T	uc010myj.2	+	10	1077	c.954C>T	c.(952-954)TTC>TTT	p.F318F	TBC1D13_uc010myk.2_Silent_p.F193F|TBC1D13_uc010myl.2_Silent_p.F137F	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	318	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						TCTTTGCCTTCCGCTGGCTGA	0.607		NaN											0	0	0	0.00499	0	16	13				
TBC1D13	54662	broad.mit.edu	37	9	131568242	131568242	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131568242C>G	uc010myj.2	+	10	1146	c.1023C>G	c.(1021-1023)CTC>CTG	p.L341L	TBC1D13_uc010myk.2_Silent_p.L216L|TBC1D13_uc010myl.2_Silent_p.L160L	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	341	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						GGGACTCCCTCTTCGCCGATG	0.582		NaN											0	0	0	0.00499	0	17	27				
LRRC8A	56262	broad.mit.edu	37	9	131670865	131670865	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131670865G>A	uc004bwl.3	+	3	1676	c.1422G>A	c.(1420-1422)CTG>CTA	p.L474L	LRRC8A_uc010myp.2_Silent_p.L474L|LRRC8A_uc010myq.2_Silent_p.L474L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	474	LRR 5.				pre-B cell differentiation	integral to membrane					0						TCAAGGAGCTGTGGCTCTACC	0.622		NaN											0	0	0	0.014758	0	5	29				
ASS1	445	broad.mit.edu	37	9	133370345	133370345	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:133370345C>G	uc004bzm.2	+	14	1418	c.1062C>G	c.(1060-1062)CTC>CTG	p.L354L	ASS1_uc004bzn.2_Silent_p.L354L|ASS1_uc010mza.2_Silent_p.L430L|ASS1_uc004bzo.2_Silent_p.L335L|ASS1_uc010mzb.2_Silent_p.L392L|ASS1_uc004bzp.2_Silent_p.L354L|ASS1_uc010mzc.2_Silent_p.L354L	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	354					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGTCCGTCCTCAAGGGCCAGG	0.592		NaN											0	0	0	0.008291	0	11	30				
ABL1	25	broad.mit.edu	37	9	133738201	133738201	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:133738201C>T	uc004bzw.2	+	4	604	c.601C>T	c.(601-603)CAT>TAT	p.H201Y	ABL1_uc004bzv.2_Missense_Mutation_p.H220Y|uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	201	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GTTGGTTCATCATCATTCAAC	0.567		NaN	T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								0	0	0	0.010504	0	22	47				
BAT2L1	84726	broad.mit.edu	37	9	134308042	134308042	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:134308042G>A	uc004can.3	+	2	209	c.154G>A	c.(154-156)GCT>ACT	p.A52T	BAT2L1_uc004cam.1_Missense_Mutation_p.A52T	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	52							protein binding				0						TGGGAAAGTTGCTGCAGCCCG	0.522		NaN											0	0	0	0.00499	0	17	55				
C9orf96	169436	broad.mit.edu	37	9	136253248	136253248	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:136253248C>T	uc004cdk.2	+	5	373	c.312C>T	c.(310-312)CTC>CTT	p.L104L	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	104	Protein kinase.						ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTGTACCTCTGCCTGGTGA	0.572		NaN											0	0	0	0.01892	0	23	25				
SARDH	1757	broad.mit.edu	37	9	136599158	136599158	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:136599158C>T	uc004cep.3	-	2	272	c.138G>A	c.(136-138)CTG>CTA	p.L46L	SARDH_uc004ceo.2_Silent_p.L46L|SARDH_uc011mdn.1_Silent_p.L46L|SARDH_uc011mdo.1_Intron	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	46					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCCTCCTTCAGGGTCCGCT	0.692		NaN											0	0	0	0.010729	0	11	29				
COL5A1	1289	broad.mit.edu	37	9	137711985	137711985	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:137711985C>A	uc004cfe.2	+	58	4852	c.4470C>A	c.(4468-4470)CTC>CTA	p.L1490L	uc004cff.2_RNA	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1490	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGATCGGGCTCATCGGTCCTC	0.637		NaN											1	0	3.08376e-08	0.01892	3.21423e-08	22	62				
SFRS17A	8227	broad.mit.edu	37	X	1719917	1719917	+	Missense_Mutation	SNP	C	C	A	rs149256056	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:1719917C>A	uc004cqa.2	+	5	1714	c.1518C>A	c.(1516-1518)GAC>GAA	p.D506E	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	506					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGAGGCCGACGGCGCTCCCA	0.716		NaN											1	0	0.00621372	0.006214	0.00627157	9	32				
VCX	26609	broad.mit.edu	37	X	7811787	7811787	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:7811787G>A	uc004crz.2	+	3	570	c.351G>A	c.(349-351)GAG>GAA	p.E117E		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	variable charge, X chromosome	117	2.|10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding				0		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TGAGTCAGGAGAGCGAGGTGG	0.637		NaN											0	0	0	0.01441	0	95	48				
KAL1	3730	broad.mit.edu	37	X	8538598	8538598	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:8538598A>G	uc004csf.2	-	7	1154	c.1004T>C	c.(1003-1005)ATG>ACG	p.M335T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	335	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						ACTGCTGACCATCCAGCTCCA	0.517		NaN											0	0	0	0.003163	0	14	4				
KLHL15	80311	broad.mit.edu	37	X	24006301	24006301	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:24006301C>T	uc004dba.3	-	4	1808	c.1552G>A	c.(1552-1554)GAG>AAG	p.E518K		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	518	Kelch 4.									ovary(1)|breast(1)	2						TGATCAGTCTCTGGGTTGTAT	0.478		NaN											0	0	0	0.01441	0	110	28				
EIF2S3	1968	broad.mit.edu	37	X	24084129	24084129	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:24084129G>C	uc004dbc.2	+	8	808	c.787G>C	c.(787-789)GAT>CAT	p.D263H		NM_001415	NP_001406	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2,	263						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			lung(1)	1						TAGATCTTTTGATGTCAACAA	0.308		NaN											0	0	0	0.004656	0	27	46				
TAB3	257397	broad.mit.edu	37	X	30873457	30873457	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:30873457G>A	uc004dcj.2	-	6	988	c.325C>T	c.(325-327)CCT>TCT	p.P109S	TAB3_uc004dck.2_Missense_Mutation_p.P109S|TAB3_uc010ngl.2_Missense_Mutation_p.P109S	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	109					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						GCATGCTGAGGATCAATATGT	0.453		NaN											0	0	0	0.008361	0	31	5				
DMD	1756	broad.mit.edu	37	X	32382783	32382783	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:32382783G>T	uc004dda.1	-	36	5314	c.5070C>A	c.(5068-5070)CAC>CAA	p.H1690Q	DMD_uc004dcw.2_Missense_Mutation_p.H346Q|DMD_uc004dcx.2_Missense_Mutation_p.H349Q|DMD_uc004dcz.2_Missense_Mutation_p.H1567Q|DMD_uc004dcy.1_Missense_Mutation_p.H1686Q|DMD_uc004ddb.1_Missense_Mutation_p.H1682Q|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1690	Spectrin 12.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTTGTGATGTGGTCCACAT	0.363		NaN											1	0	1.35964e-18	0.01441	1.46215e-18	52	12				
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:44922802C>T	uc004dge.3	+	16	2038	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGCGTCTCTCAGCCTGGAGT	0.567		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.008361	0	29	13		Valid		
MAGIX	79917	broad.mit.edu	37	X	49022416	49022416	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:49022416C>T	uc010nin.1	+	6	730	c.683C>T	c.(682-684)CCG>CTG	p.P228L	MAGIX_uc010nio.1_Missense_Mutation_p.P152L|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.P169L|MAGIX_uc004dmw.2_Intron	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	228											0						TCCGTAGTCCCGTCATGGCCA	0.602		NaN											0	0	0	0.007291	0	28	9				
FAM120C	54954	broad.mit.edu	37	X	54143101	54143101	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:54143101T>A	uc004dsz.3	-	10	2272	c.2189A>T	c.(2188-2190)AAA>ATA	p.K730I	FAM120C_uc011moh.1_Missense_Mutation_p.K730I	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	730										ovary(1)|central_nervous_system(1)	2						TTCAACTGCTTTGCCTAGCCA	0.527		NaN											0	0	0	0.007835	0	40	14				
ARHGEF9	23229	broad.mit.edu	37	X	62926191	62926191	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:62926191C>T	uc004dvl.2	-	3	1167	c.328G>A	c.(328-330)GAG>AAG	p.E110K	ARHGEF9_uc004dvj.1_5'UTR|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.E89K|ARHGEF9_uc004dvm.1_Missense_Mutation_p.E89K|ARHGEF9_uc011mot.1_Missense_Mutation_p.E57K|ARHGEF9_uc004dvn.2_Missense_Mutation_p.E117K	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	110	Interaction with GPHN (By similarity).|DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						CTCATTATCTCATTGATGACA	0.532		NaN											0	0	0	0.009096	0	4	5				
P2RY10	27334	broad.mit.edu	37	X	78216656	78216656	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:78216656C>T	uc004ede.2	+	4	1008	c.639C>T	c.(637-639)ATC>ATT	p.I213I	P2RY10_uc004edf.2_Silent_p.I213I	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	213	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						CAGTGATCATCATCGCATGGT	0.478		NaN											0	0	0	0.01892	0	24	35				
POF1B	79983	broad.mit.edu	37	X	84560911	84560911	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:84560911A>G	uc004eer.2	-	13	1469	c.1323T>C	c.(1321-1323)TCT>TCC	p.S441S	POF1B_uc004ees.2_Silent_p.S441S	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	441	Potential.						actin binding				0						TGCAAGTCTCAGAAACCTACA	0.363		NaN											0	0	0	0.007835	0	42	12				
GPRASP1	9737	broad.mit.edu	37	X	101911854	101911854	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:101911854T>C	uc004ejj.3	+	5	3814	c.3013T>C	c.(3013-3015)TGG>CGG	p.W1005R	GPRASP1_uc004eji.3_Missense_Mutation_p.W1005R|GPRASP1_uc010nod.2_Missense_Mutation_p.W1005R	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1005	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AGTGGGGTCCTGGTTCTGGGC	0.512		NaN											0	0	0	0.01441	0	87	20				
CAPN6	827	broad.mit.edu	37	X	110489911	110489911	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:110489911T>C	uc004epc.1	-	13	1988	c.1820A>G	c.(1819-1821)GAT>GGT	p.D607G	CAPN6_uc011msu.1_Missense_Mutation_p.D352G	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	607	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						AGACTTCAGATCACGGCAGTC	0.512		NaN											0	0	0	0.01441	0	53	9				
CNGA2	1260	broad.mit.edu	37	X	150912796	150912796	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:150912796C>T	uc004fey.1	+	7	2045	c.1821C>T	c.(1819-1821)AAC>AAT	p.N607N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	607	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGACCAACATGGAAACCT	0.572		NaN											0	0	0	0.01441	0	84	32				
NLGN4Y	22829	broad.mit.edu	37	Y	16835002	16835002	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrY:16835002C>T	uc004ftg.2	+	3	730	c.478C>T	c.(478-480)CAT>TAT	p.H160Y	NLGN4Y_uc004fte.2_5'UTR|NLGN4Y_uc011nas.1_Missense_Mutation_p.H180Y|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.H160Y|NLGN4Y_uc004fti.3_Missense_Mutation_p.H180Y	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	160	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						TCCAGATATTCATGAACAGAA	0.413		NaN											0	0	0	0.014758	0	5	40				
PHLDA3	23612	broad.mit.edu	37	1	201437720	201437728	+	In_Frame_Del	DEL	CTCCACGCA	CTCCACGCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:201437720_201437728delCTCCACGCA	uc001gwq.2	-	1	572_580	c.187_195delTGCGTGGAG	c.(187-195)TGCGTGGAGdel	p.CVE63del	PHLDA3_uc009wzx.2_5'UTR	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A,	63_65	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding				0						GCCCGGTGCTCTCCACGCACTCCACGGCC	0.689		NaN											NaN	NaN	NaN	NaN	NaN	10	55	---		---	---
IL19	29949	broad.mit.edu	37	1	207013293	207013294	+	In_Frame_Ins	INS	-	-	ATC			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:207013293_207013294insATC	uc001hep.2	+	5	1248_1249	c.309_310insATC	c.(307-312)insATC	p.104_105insI	IL19_uc001heo.2_In_Frame_Ins_p.142_143insI|IL19_uc010prx.1_In_Frame_Ins_p.104_105insI	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	interleukin 19 isoform 2 precursor	104_105					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTTGAGAAAAATCAGCAGCAT	0.505		NaN											NaN	NaN	NaN	NaN	NaN	57	102	---		---	---
ADM	133	broad.mit.edu	37	11	10327868	10327888	+	Splice_Site	DEL	CCCGCCCGCAGCAGTCCGGAT	CCCGCCCGCAGCAGTCCGGAT	-	rs2228573	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:10327868_10327888delCCCGCCCGCAGCAGTCCGGAT	uc001mik.1	+	3	866	c.249_splice	c.e3-1	p.S83_splice	ADM_uc001mil.1_Splice_Site_p.S83_splice|ADM_uc001mim.1_Splice_Site_p.S36_splice	NM_001124	NP_001115	P35318	ADML_HUMAN	adrenomedullin precursor						blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)	1				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TCCCCCTCCCCCCGCCCGCAGCAGTCCGGATGCCGCCCGCA	0.638		NaN											NaN	NaN	NaN	NaN	NaN	14	22	---		---	---
E2F8	79733	broad.mit.edu	37	11	19259556	19259570	+	In_Frame_Del	DEL	TGGTAGGTGTGGTTA	TGGTAGGTGTGGTTA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:19259556_19259570delTGGTAGGTGTGGTTA	uc001mpm.2	-	3	647_661	c.125_139delTAACCACACCTACCA	c.(124-141)TTAACCACACCTACCAAG>TAG	p.42_47LTTPTK>*	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_In_Frame_Del_p.42_47LTTPTK>*|E2F8_uc001mpo.1_In_Frame_Del_p.42_47LTTPTK>*	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	42_47					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCCTTGGGCTTGGTAGGTGTGGTTAAAGGGCCAAA	0.502		NaN											NaN	NaN	NaN	NaN	NaN	70	96	---		---	---
CPSF6	11052	broad.mit.edu	37	12	69652399	69652416	+	In_Frame_Del	DEL	GGTCCTCCAGGCCCACCT	GGTCCTCCAGGCCCACCT	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:69652399_69652416delGGTCCTCCAGGCCCACCT	uc001sut.3	+	6	834_851	c.724_741delGGTCCTCCAGGCCCACCT	c.(724-741)GGTCCTCCAGGCCCACCTdel	p.GPPGPP248del	CPSF6_uc001suu.3_In_Frame_Del_p.GPPGPP285del|CPSF6_uc010stk.1_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	248_253	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TCCACCCTTAGGTCCTCCAGGCCCACCTGGTCCACCAG	0.491		NaN											NaN	NaN	NaN	NaN	NaN	7	71	---		---	---
ZC3H13	23091	broad.mit.edu	37	13	46619528	46619529	+	Frame_Shift_Ins	INS	-	-	TGCTGTACTGCCAG			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:46619528_46619529insTGCTGTACTGCCAG	uc010tfw.1	-	1	120_121	c.114_115insCTGGCAGTACAGCA	c.(112-117)GCAGAGfs	p.A38fs	ZC3H13_uc001vas.1_Frame_Shift_Ins_p.A38fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.A38fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	38_39	C3H1-type.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CAACTCACCTCTGCTGTACTGC	0.416		NaN											NaN	NaN	NaN	NaN	NaN	25	178	---		---	---
CCDC33	80125	broad.mit.edu	37	15	74628313	74628317	+	Frame_Shift_Del	DEL	GCCCC	GCCCC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:74628313_74628317delGCCCC	uc002axo.2	+	19	2581_2585	c.2187_2191delGCCCC	c.(2185-2193)GAGCCCCTGfs	p.E729fs	CCDC33_uc002axp.2_Intron|CCDC33_uc002axq.2_3'UTR|CCDC33_uc002axr.2_3'UTR	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	932_934							protein binding			ovary(3)|skin(2)	5						CAGAGCTGGAGCCCCTGCTGCCCAG	0.634		NaN											NaN	NaN	NaN	NaN	NaN	22	65	---		---	---
DNAH3	55567	broad.mit.edu	37	16	21042362	21042366	+	Splice_Site	DEL	CTTAC	CTTAC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:21042362_21042366delCTTAC	uc010vbe.1	-	37	5439	c.5439_splice	c.e37+1	p.K1813_splice		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGGGTCAATACTTACCTTTTTATTG	0.332		NaN											NaN	NaN	NaN	NaN	NaN	32	23	---		---	---
TP53	7157	broad.mit.edu	37	17	7572963	7572963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7572963delT	uc002gim.2	-	11	1340	c.1146delA	c.(1144-1146)AAAfs	p.K382fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.K250fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.K382fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	382	Basic (repression of DNA-binding).|Interaction with CARM1.			K->R: Abolishes monomethylation by SETD8.|K->A: Abolishes acetylation by CREBBP.	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.K382fs*40(3)|p.K382fs*13(2)|p.?(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAACATGAGTTTTTTATGGC	0.527		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			NaN	NaN	NaN	NaN	NaN	62	88	---	Valid	---	---
NFE2L1	4779	broad.mit.edu	37	17	46133814	46133814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:46133814delG	uc002imz.3	+	3	1228	c.577delG	c.(577-579)GACfs	p.D193fs	NFE2L1_uc002ina.3_Frame_Shift_Del_p.D193fs|NFE2L1_uc002inb.3_Frame_Shift_Del_p.D193fs|NFE2L1_uc010wle.1_Frame_Shift_Del_p.D35fs|NFE2L1_uc010wlf.1_Frame_Shift_Del_p.D67fs|NFE2L1_uc002inc.1_Frame_Shift_Del_p.D182fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	193	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						TGAGGTTTTTGACTATAGTCA	0.547		NaN											NaN	NaN	NaN	NaN	NaN	73	288	---		---	---
CXXC1	30827	broad.mit.edu	37	18	47812527	47812533	+	Frame_Shift_Del	DEL	CCCTCCA	CCCTCCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:47812527_47812533delCCCTCCA	uc002leq.3	-	4	1051_1057	c.318_324delTGGAGGG	c.(316-324)GGTGGAGGGfs	p.G106fs	CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Frame_Shift_Del_p.G106fs|CXXC1_uc010doy.2_Frame_Shift_Del_p.G106fs|CXXC1_uc002les.2_Frame_Shift_Del_p.G106fs	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	106_108					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GCCTCTTGCGCCCTCCACCCTCATCCC	0.638		NaN											NaN	NaN	NaN	NaN	NaN	39	62	---		---	---
CYP4F3	4051	broad.mit.edu	37	19	15757870	15757874	+	Frame_Shift_Del	DEL	GTACC	GTACC	-	rs150284363		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:15757870_15757874delGTACC	uc002nbj.2	+	4	402_406	c.352_356delGTACC	c.(352-357)GTACCAfs	p.V118fs	CYP4F3_uc010xok.1_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xol.1_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xon.1_5'Flank	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	118_119					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						AGCTGCCATTGTACCAAAGGACAAG	0.566		NaN											NaN	NaN	NaN	NaN	NaN	20	79	---		---	---
HAMP	57817	broad.mit.edu	37	19	35773490	35773501	+	In_Frame_Del	DEL	AGCTCCCAGATC	AGCTCCCAGATC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35773490_35773501delAGCTCCCAGATC	uc002nyw.2	+	1	81_92	c.10_21delAGCTCCCAGATC	c.(10-21)AGCTCCCAGATCdel	p.SSQI4del		NM_021175	NP_066998	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide preproprotein	4_7					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GATGGCACTGAGCTCCCAGATCTGGGCCGCTT	0.623		NaN											NaN	NaN	NaN	NaN	NaN	32	131	---		---	---
SLC27A5	10998	broad.mit.edu	37	19	59010912	59010912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:59010912delG	uc002qtc.2	-	7	1724	c.1614delC	c.(1612-1614)GCCfs	p.A538fs	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	538	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGCGGTCCATGGCCAGTACGT	0.692		NaN											NaN	NaN	NaN	NaN	NaN	33	45	---		---	---
CABIN1	23523	broad.mit.edu	37	22	24572198	24572215	+	In_Frame_Del	DEL	GCAGAGGCTGCCCTGGGC	GCAGAGGCTGCCCTGGGC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:24572198_24572215delGCAGAGGCTGCCCTGGGC	uc002zzi.1	+	35	6287_6304	c.6160_6177delGCAGAGGCTGCCCTGGGC	c.(6160-6177)GCAGAGGCTGCCCTGGGCdel	p.AEAALG2054del	CABIN1_uc002zzj.1_In_Frame_Del_p.AEAALG1975del|CABIN1_uc002zzl.1_In_Frame_Del_p.AEAALG2054del|CABIN1_uc010gul.1_Intron	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2054_2059					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CTGCTGGCCGGCAGAGGCTGCCCTGGGCACAGGCGCTG	0.693		NaN											NaN	NaN	NaN	NaN	NaN	7	2	---		---	---
SOX10	6663	broad.mit.edu	37	22	38374040	38374040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:38374040delC	uc003aun.1	-	3	809	c.531delG	c.(529-531)CGGfs	p.R177fs	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Frame_Shift_Del_p.R177fs	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	177						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					CGTTCTTCCGCCGCCTGGGCT	0.667		NaN											NaN	NaN	NaN	NaN	NaN	9	10	---		---	---
ZFYVE28	57732	broad.mit.edu	37	4	2273431	2273439	+	In_Frame_Del	DEL	GCCAGTTCA	GCCAGTTCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:2273431_2273439delGCCAGTTCA	uc003gex.1	-	11	2710_2718	c.2391_2399delTGAACTGGC	c.(2389-2400)TCTGAACTGGCA>TCA	p.ELA798del	ZFYVE28_uc011bvk.1_In_Frame_Del_p.ELA728del|ZFYVE28_uc011bvl.1_In_Frame_Del_p.ELA768del|ZFYVE28_uc003gew.1_In_Frame_Del_p.ELA684del	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	798_800					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						GGTCTTGGCTGCCAGTTCAGAGGATGACA	0.627		NaN											NaN	NaN	NaN	NaN	NaN	40	128	---		---	---
SLC10A4	201780	broad.mit.edu	37	4	48485996	48486009	+	Frame_Shift_Del	DEL	CTGCTGGCAGCGCT	CTGCTGGCAGCGCT	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:48485996_48486009delCTGCTGGCAGCGCT	uc003gyc.2	+	1	637_650	c.418_431delCTGCTGGCAGCGCT	c.(418-432)CTGCTGGCAGCGCTCfs	p.L140fs		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	140_144	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						CGTGGGCGCGCTGCTGGCAGCGCTCTGCCAGTTC	0.715		NaN											NaN	NaN	NaN	NaN	NaN	4	5	---		---	---
FHDC1	85462	broad.mit.edu	37	4	153896047	153896048	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:153896047_153896048insC	uc003inf.2	+	11	1679_1680	c.1604_1605insC	c.(1603-1605)AACfs	p.N535fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	535					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CGGCCCCCGAACACCCGCCGCT	0.663		NaN											NaN	NaN	NaN	NaN	NaN	4	6	---		---	---
DNAH5	1767	broad.mit.edu	37	5	13841840	13841848	+	In_Frame_Del	DEL	ACCTGTTTC	ACCTGTTTC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:13841840_13841848delACCTGTTTC	uc003jfd.2	-	33	5479_5487	c.5437_5445delGAAACAGGT	c.(5437-5445)GAAACAGGTdel	p.ETG1813del		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1813_1815	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTAGTTGGAAACCTGTTTCTTGAATATTT	0.344		NaN							Kartagener_syndrome				NaN	NaN	NaN	NaN	NaN	24	76	---		---	---
AFF4	27125	broad.mit.edu	37	5	132216839	132216840	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:132216839_132216840insT	uc003kyd.2	-	21	3811_3812	c.3403_3404insA	c.(3403-3405)ATCfs	p.I1135fs	AFF4_uc011cxk.1_Frame_Shift_Ins_p.I813fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	1135					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTAAAGATGAGAGGGCCC	0.381		NaN											NaN	NaN	NaN	NaN	NaN	15	30	---		---	---
PCDHGC4	56098	broad.mit.edu	37	5	140865328	140865328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140865328delG	uc003lky.1	+	1	588	c.588delG	c.(586-588)CTGfs	p.L196fs	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Frame_Shift_Del_p.L196fs	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	196	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTCCTGGAGAAGCCTT	0.587		NaN											NaN	NaN	NaN	NaN	NaN	10	56	---		---	---
INTS1	26173	broad.mit.edu	37	7	1517411	1517412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:1517411_1517412insC	uc003skn.2	-	34	4892_4893	c.4791_4792insG	c.(4789-4794)GGGAAGfs	p.G1597fs	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1597_1598					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCACCCGGCTTCCCCCCAGCCA	0.693		NaN											NaN	NaN	NaN	NaN	NaN	20	27	---		---	---
GIMAP2	26157	broad.mit.edu	37	7	150390132	150390133	+	Frame_Shift_Ins	INS	-	-	CACAC			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:150390132_150390133insCACAC	uc003who.2	+	3	846_847	c.758_759insCACAC	c.(757-759)TACfs	p.Y253fs	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	253						integral to membrane	GTP binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAAGAAGTTACACAGCCTTGG	0.371		NaN											NaN	NaN	NaN	NaN	NaN	14	71	---		---	---
