Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PTCHD2	57540	broad.mit.edu	37	1	11596425	11596426	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:11596425_11596426GC>TT	uc001ash.3	+	21	3999_4000	c.3861_3862GC>TT	c.(3859-3864)CGGCAC>CGTTAC	p.H1288Y		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1288	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCCGTGCGGCACGTGGGCGT	0.673		NA											25	29					0	0	0	0
EPHA10	284656	broad.mit.edu	37	1	38227471	38227471	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:38227471G>A	uc009vvi.2	-	3	542	c.456C>T	c.(454-456)ATC>ATT	p.I152I	EPHA10_uc001cbw.3_Silent_p.I152I	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	152	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGATCGTGTCGATTTTGCGGG	0.662		NA											13	28					0	0	0	0
HOOK1	51361	broad.mit.edu	37	1	60314747	60314747	+	Silent	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:60314747T>G	uc009wad.2	+	13	1236	c.1134T>G	c.(1132-1134)GTT>GTG	p.V378V	HOOK1_uc001czo.2_Silent_p.V378V|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.V336V	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	378	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					GACATTAGGTTCAAGATCTTC	0.338		NA											20	51					0	0	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879069	144879069	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:144879069G>A	uc001elw.3	-	27	4672	c.4381C>T	c.(4381-4383)CTG>TTG	p.L1461L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1417L|PDE4DIP_uc001elv.3_Silent_p.L468L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1461					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTCAGCCAGCTTCTCTTCT	0.517		NA	T	PDGFRB	MPD								15	221					0	0	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281460	145281460	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:145281460A>G	uc001emn.3	+	4	760	c.390A>G	c.(388-390)AAA>AAG	p.K130K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.K130K|NOTCH2NL_uc001emo.2_Silent_p.K130K|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	130	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						TCTCCTGCAAATGCCTCACAG	0.537		NA											37	404					0	0	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543837	154543837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:154543837C>T	uc001ffg.2	+	5	802	c.538C>T	c.(538-540)CGC>TGC	p.R180C		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	180	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GACCTACGACCGCACAGAGAT	0.577		NA											5	48					0	0	0	0
SLC9A11	284525	broad.mit.edu	37	1	173490489	173490489	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:173490489C>G	uc001giz.2	-	22	3113	c.2690G>C	c.(2689-2691)GGA>GCA	p.G897A	SLC9A11_uc009wwe.2_Missense_Mutation_p.G455A	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	897	cNMP.				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						CATTTCACCTCCTTTACAAAT	0.318		NA											7	51					0	0	0	0
CEP350	9857	broad.mit.edu	37	1	179983098	179983098	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:179983098C>G	uc001gnt.2	+	10	1893	c.1510C>G	c.(1510-1512)CTA>GTA	p.L504V	CEP350_uc009wxl.2_Missense_Mutation_p.L503V|CEP350_uc001gnu.2_Missense_Mutation_p.L338V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	504						centrosome|nucleus|spindle				ovary(4)	4						TATAAAGAAACTAGCTTCATC	0.368		NA											18	43					0	0	0	0
XPR1	9213	broad.mit.edu	37	1	180794421	180794421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:180794421C>T	uc001goi.2	+	9	1267	c.1075C>T	c.(1075-1077)CTT>TTT	p.L359F	XPR1_uc009wxm.2_Missense_Mutation_p.L359F|XPR1_uc009wxn.2_Missense_Mutation_p.L359F	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	359	Helical; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						GGTTTTCTTCCTTATCAACCC	0.423		NA											40	117					0	0	0	0
FAM5C	339479	broad.mit.edu	37	1	190067993	190067993	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:190067993T>C	uc001gse.1	-	8	1688	c.1456A>G	c.(1456-1458)ATT>GTT	p.I486V	FAM5C_uc010pot.1_Missense_Mutation_p.I384V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	486						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TCAAAGCCAATATAGTGATCG	0.522		NA											22	158					0	0	0	0
CDNF	441549	broad.mit.edu	37	10	14870200	14870200	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:14870200T>C	uc001inb.1	-	2	225	c.187A>G	c.(187-189)ATA>GTA	p.I63V	CDNF_uc010qbv.1_Missense_Mutation_p.I63V|CDNF_uc001inc.1_5'UTR	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	63						extracellular region	growth factor activity				0						TCTTTCTCTATAGTGTCCAGC	0.368		NA											29	105					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	55955480	55955480	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:55955480G>T	uc001jju.1	-	11	1663	c.1268C>A	c.(1267-1269)CCT>CAT	p.P423H	PCDH15_uc010qhq.1_Missense_Mutation_p.P428H|PCDH15_uc010qhr.1_Missense_Mutation_p.P423H|PCDH15_uc010qhs.1_Missense_Mutation_p.P428H|PCDH15_uc010qht.1_Missense_Mutation_p.P423H|PCDH15_uc010qhu.1_Missense_Mutation_p.P423H|PCDH15_uc001jjv.1_Missense_Mutation_p.P401H|PCDH15_uc010qhv.1_Missense_Mutation_p.P423H|PCDH15_uc010qhw.1_Missense_Mutation_p.P386H|PCDH15_uc010qhx.1_Missense_Mutation_p.P423H|PCDH15_uc010qhy.1_Missense_Mutation_p.P428H|PCDH15_uc010qhz.1_Missense_Mutation_p.P423H|PCDH15_uc010qia.1_Missense_Mutation_p.P401H|PCDH15_uc010qib.1_Missense_Mutation_p.P401H|PCDH15_uc001jjw.2_Missense_Mutation_p.P423H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	423	Cadherin 4.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTCTTAAAGGTGAAGTCAA	0.368		NA								HNSCC(58;0.16)			10	108					4.69e-08	5.6e-08	1	0
ZNF365	22891	broad.mit.edu	37	10	64148197	64148197	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:64148197G>A	uc001jmc.2	+	3	1101	c.786G>A	c.(784-786)GAG>GAA	p.E262E	ZNF365_uc001jly.3_Silent_p.E277E|ZNF365_uc001jmb.3_Silent_p.E262E|ZNF365_uc001jlz.3_Silent_p.E262E|ZNF365_uc001jma.3_RNA	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGCAGCTGAGAAGGAGGTTC	0.458		NA											7	57					0	0	0	0
TET1	80312	broad.mit.edu	37	10	70333405	70333405	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:70333405C>T	uc001jok.3	+	2	1815	c.1310C>T	c.(1309-1311)CCA>CTA	p.P437L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	437					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CCTGTTCCTCCAAATCCAATT	0.468		NA											27	102					0	0	0	0
AVPI1	60370	broad.mit.edu	37	10	99437758	99437758	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:99437758C>T	uc001koh.1	-	3	423	c.312G>A	c.(310-312)CTG>CTA	p.L104L	AVPI1_uc001koi.2_Silent_p.L104L	NM_021732	NP_068378	Q5T686	AVPI1_HUMAN	vasopressin-induced protein, 32kDa	104					cell cycle					breast(1)	1		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTGGGTTGGCCAGTGCAGAGT	0.522		NA											26	62					0	0	0	0
C10orf125	282969	broad.mit.edu	37	10	135168929	135168929	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:135168929A>T	uc001lmt.2	-	6	428	c.410T>A	c.(409-411)CTC>CAC	p.L137H	C10orf125_uc001lms.2_3'UTR	NM_001098483	NP_001091953	A2VDF0	FUCM_HUMAN	hypothetical protein LOC282969 isoform 1	137					fucose metabolic process		fucose binding|racemase and epimerase activity, acting on carbohydrates and derivatives				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)		GTTTCCGTAGAGGGCCGTCTC	0.662		NA											5	22					0	0	0	0
LUZP2	338645	broad.mit.edu	37	11	24750809	24750809	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:24750809G>A	uc001mqs.2	+	2	391	c.157G>A	c.(157-159)GAT>AAT	p.D53N	LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Missense_Mutation_p.D53N	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	53	Potential.					extracellular region				ovary(1)|skin(1)	2						AAGAGAACTTGATGGAATTAA	0.403		NA											4	62					0	0	0	0
LGALS12	85329	broad.mit.edu	37	11	63276452	63276452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:63276452G>A	uc001nxa.2	+	3	768	c.427G>A	c.(427-429)GAG>AAG	p.E143K	LGALS12_uc001nxb.2_Missense_Mutation_p.E143K|LGALS12_uc001nxc.2_Missense_Mutation_p.E144K|LGALS12_uc001nxd.2_Missense_Mutation_p.E82K|LGALS12_uc001nxe.2_Missense_Mutation_p.E82K|LGALS12_uc009yot.2_Missense_Mutation_p.E103K	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	143	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2						CTTCGGGAATGAGGAAGTGAA	0.592		NA											10	27					0	0	0	0
SLC29A2	3177	broad.mit.edu	37	11	66134014	66134014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:66134014C>T	uc001oht.2	-	8	984	c.755G>A	c.(754-756)AGT>AAT	p.S252N	SLC29A2_uc001ohs.2_Missense_Mutation_p.S132N|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.S132N|SLC29A2_uc001ohu.2_Missense_Mutation_p.S252N|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	252					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						TTTCTGGGGACTACTGGGAAT	0.577		NA											7	52					0	0	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:27829391G>T	uc001ric.1	+	18	1869	c.1492G>T	c.(1492-1494)GGG>TGG	p.G498W	PPFIBP1_uc010sjr.1_Missense_Mutation_p.G329W|PPFIBP1_uc001rib.1_Missense_Mutation_p.G481W|PPFIBP1_uc001ria.2_Missense_Mutation_p.G467W|PPFIBP1_uc001rid.1_Missense_Mutation_p.G345W|PPFIBP1_uc001rif.1_5'Flank	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	498					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552		NA											11	227					7.04e-09	8.48e-09	1	0
SENP1	29843	broad.mit.edu	37	12	48468185	48468185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:48468185T>C	uc001rqx.2	-	8	1308	c.862A>G	c.(862-864)ACT>GCT	p.T288A	SENP1_uc001rqw.2_Missense_Mutation_p.T288A|SENP1_uc001rqy.2_Missense_Mutation_p.T89A|SENP1_uc001rqz.2_Missense_Mutation_p.T89A|SENP1_uc009zkx.2_Missense_Mutation_p.T288A	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	288					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGATGAAGAGTACCAGAATCT	0.408		NA											18	98					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49446699	49446699	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:49446699T>C	uc001rta.3	-	8	1111	c.1111A>G	c.(1111-1113)AGA>GGA	p.R371G		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	371					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACCACTTACCTGCTACACACC	0.547		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			30	91					0	0	0	0
AQP6	363	broad.mit.edu	37	12	50367087	50367087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:50367087C>T	uc001rvr.1	+	1	468	c.131C>T	c.(130-132)TCA>TTA	p.S44L	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	44	Helical; (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0						GGCGTGGGCTCAGTCATGCGC	0.607		NA											23	80					0	0	0	0
BBS10	79738	broad.mit.edu	37	12	76741323	76741323	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:76741323A>T	uc001syd.1	-	2	526	c.442T>A	c.(442-444)TAC>AAC	p.Y148N		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	148					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						CTACTTAGGTACTGGTCCATA	0.393		NA							Bardet-Biedl_syndrome				11	65					0	0	0	0
HAL	3034	broad.mit.edu	37	12	96377733	96377733	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:96377733T>C	uc001tem.1	-	15	1540	c.1243A>G	c.(1243-1245)AAG>GAG	p.K415E	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.K207E|HAL_uc010sux.1_Missense_Mutation_p.K415E	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	415					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	ATGATGTTCTTCACAAATGCT	0.338		NA											21	39					0	0	0	0
DHRS1	115817	broad.mit.edu	37	14	24760813	24760813	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:24760813A>G	uc001woj.1	-	7	942	c.673T>C	c.(673-675)TCT>CCT	p.S225P	DHRS1_uc010aln.1_Intron|DHRS1_uc001wok.2_Missense_Mutation_p.S225P	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	225						endoplasmic reticulum	binding|oxidoreductase activity				0				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GTTTCCGCAGATGAGAAGGCT	0.488		NA											34	218					0	0	0	0
SYT16	83851	broad.mit.edu	37	14	62567240	62567240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:62567240C>T	uc001xfu.1	+	6	1950	c.1753C>T	c.(1753-1755)CAG>TAG	p.Q585*	SYT16_uc010tse.1_Nonsense_Mutation_p.Q143*	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	585	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGCCCTCTTTCAGCTGTCTGA	0.502		NA											15	31					0	0	0	0
SYNE2	23224	broad.mit.edu	37	14	64496627	64496627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:64496627C>G	uc001xgm.2	+	44	6959	c.6729C>G	c.(6727-6729)AAC>AAG	p.N2243K	SYNE2_uc001xgl.2_Missense_Mutation_p.N2243K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2243	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGCAAAACTTGGACGGTC	0.338		NA											5	25					0	0	0	0
MTFMT	123263	broad.mit.edu	37	15	65313852	65313852	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr15:65313852C>A	uc002aof.3	-	4	671	c.645G>T	c.(643-645)ATG>ATT	p.M215I		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	215						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)	GGAATTATACCATGTTGGCAC	0.383		NA											20	50					1.02e-10	1.24e-10	1	0
RGS11	8786	broad.mit.edu	37	16	321023	321023	+	Silent	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:321023C>A	uc002cgj.1	-	13	942	c.939G>T	c.(937-939)GGG>GGT	p.G313G	RGS11_uc002cgi.1_Silent_p.G292G|RGS11_uc010bqs.1_Silent_p.G302G|RGS11_uc002cgk.1_Silent_p.G129G	NM_183337	NP_899180	O94810	RGS11_HUMAN	regulator of G-protein signalling 11 isoform 1	313	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			lung(1)|pancreas(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGTGGGCCCGCCCCACGGGGT	0.682		NA											3	36					0.00024832	0.000276538	1	0
SRRM2	23524	broad.mit.edu	37	16	2812431	2812431	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:2812431G>T	uc002crk.2	+	11	2451	c.1902G>T	c.(1900-1902)AGG>AGT	p.R634S	SRRM2_uc002crj.1_Missense_Mutation_p.R538S|SRRM2_uc002crl.1_Missense_Mutation_p.R634S|SRRM2_uc010bsu.1_Missense_Mutation_p.R538S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	634	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TACGACGCAGGTCTCGTAGTA	0.622		NA											22	80					3.6e-14	4.48e-14	1	0
ACSM2A	123876	broad.mit.edu	37	16	20480920	20480920	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:20480920G>T	uc010bwe.2	+	5	714	c.475G>T	c.(475-477)GCT>TCT	p.A159S	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.A80S|ACSM2A_uc002dhf.3_Missense_Mutation_p.A159S|ACSM2A_uc002dhg.3_Missense_Mutation_p.A159S|ACSM2A_uc010vay.1_Missense_Mutation_p.A80S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	159					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GGCTATTGTTGCTGGGGATGA	0.458		NA											52	128					2.76e-25	3.52e-25	1	0
DNAH3	55567	broad.mit.edu	37	16	21069448	21069448	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:21069448T>A	uc010vbe.1	-	27	3883	c.3883A>T	c.(3883-3885)ACC>TCC	p.T1295S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1295	Stem (By similarity).				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)		ACCTCCTGGGTCCAAAAGATG	0.478		NA											16	36					0	0	0	0
GTF3C1	2975	broad.mit.edu	37	16	27476027	27476027	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:27476027C>G	uc002dov.1	-	34	5526	c.5486G>C	c.(5485-5487)AGA>ACA	p.R1829T	GTF3C1_uc002dou.2_Missense_Mutation_p.R1829T	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1829						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GGGGTCTTCTCTCTGGATGTC	0.672		NA											17	69					0	0	0	0
CNOT1	23019	broad.mit.edu	37	16	58592411	58592411	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:58592411G>T	uc002env.2	-	18	2591	c.2298C>A	c.(2296-2298)TTC>TTA	p.F766L	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.F766L|CNOT1_uc002enx.2_Missense_Mutation_p.F766L|CNOT1_uc002enz.1_Missense_Mutation_p.F195L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	766					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAATACCACTGAATGCAGTGG	0.463		NA											10	35					6.4e-05	7.32e-05	1	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:7578190T>C	uc002gim.2	-	6	853	c.659A>G	c.(658-660)TAT>TGT	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	220	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			12	20					0	0	0	0
DNAH2	146754	broad.mit.edu	37	17	7734767	7734767	+	Silent	SNP	G	G	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:7734767G>C	uc002giu.1	+	80	12533	c.12519G>C	c.(12517-12519)GGG>GGC	p.G4173G	DNAH2_uc010cnm.1_Silent_p.G1111G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4173					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTATGAGGGGACTCAAAAAC	0.527		NA											12	37					0	0	0	0
RNF135	84282	broad.mit.edu	37	17	29326075	29326075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:29326075T>C	uc002hfz.2	+	5	1301	c.1165T>C	c.(1165-1167)TTC>CTC	p.F389L	RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN	ring finger protein 135 isoform 1	389	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		skin(2)	2		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AAAGCTTGCCTTCTATTCAGT	0.532		NA											25	71					0	0	0	0
MED13	9969	broad.mit.edu	37	17	60032881	60032881	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:60032881T>A	uc002izo.2	-	26	5907	c.5830A>T	c.(5830-5832)ATG>TTG	p.M1944L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1944					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GATGTCTGCATATTTAGAGTC	0.343		NA											23	134					0	0	0	0
SLC26A11	284129	broad.mit.edu	37	17	78223009	78223009	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:78223009A>G	uc002jyb.1	+	16	1848	c.1579A>G	c.(1579-1581)ACT>GCT	p.T527A	SLC26A11_uc002jyc.1_Missense_Mutation_p.T527A|SLC26A11_uc002jyd.1_Missense_Mutation_p.T527A|SLC26A11_uc010dhv.1_Missense_Mutation_p.T527A	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	527	Extracellular (Potential).|STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATCGACTACACTGTGGTGCT	0.672		NA											5	25					0	0	0	0
ROCK1	6093	broad.mit.edu	37	18	18534911	18534911	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr18:18534911T>C	uc002kte.2	-	31	4627	c.3686A>G	c.(3685-3687)CAT>CGT	p.H1229R		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	1229	PH.|Auto-inhibitory.|Phorbol-ester/DAG-type.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					AATAAACTCATGGCCTTTGTG	0.413		NA											11	37					0	0	0	0
B4GALT6	9331	broad.mit.edu	37	18	29211087	29211087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr18:29211087C>T	uc002kwz.3	-	6	908	c.611G>A	c.(610-612)CGT>CAT	p.R204H	B4GALT6_uc010dma.2_Missense_Mutation_p.R165H|B4GALT6_uc010dmb.2_Missense_Mutation_p.R165H	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	204	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAGCATCGCACGGTTAAAAGG	0.398		NA											19	37					0	0	0	0
S1PR4	8698	broad.mit.edu	37	19	3179854	3179854	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:3179854T>A	uc002lxg.2	+	1	1089	c.1064T>A	c.(1063-1065)CTG>CAG	p.L355Q		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	355	Cytoplasmic (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						GACAGCTCTCTGAGGCCAAGG	0.682		NA											30	89					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9073955	9073955	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:9073955C>G	uc002mkp.2	-	3	13695	c.13491G>C	c.(13489-13491)TTG>TTC	p.L4497F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4499	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGCTTGTGTTCAACATATCTG	0.453		NA											28	76					0	0	0	0
ZNF433	163059	broad.mit.edu	37	19	12126659	12126659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:12126659T>G	uc002msy.1	-	4	1194	c.1023A>C	c.(1021-1023)AAA>AAC	p.K341N	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K306N	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	341	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCCACAATGTTTACATTCAT	0.388		NA											6	58					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22940586	22940586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:22940586C>G	uc010xrh.1	-	5	1852	c.1852G>C	c.(1852-1854)GAA>CAA	p.E618Q		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.373		NA											16	38					0	0	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085740	42085740	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:42085740C>A	uc002ore.3	+	3	555	c.459C>A	c.(457-459)AGC>AGA	p.S153R	CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.S153R	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion	153	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1						AAGCCAGCAGCACCACAGTCA	0.537		NA											6	75					8.13e-05	9.26e-05	1	0
LILRB4	11006	broad.mit.edu	37	19	55174502	55174502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:55174502C>T	uc002qgp.2	+	1	379	c.17C>T	c.(16-18)ACG>ATG	p.T6M	LILRB4_uc002qgo.1_Missense_Mutation_p.T47M|LILRB4_uc002qgq.2_Missense_Mutation_p.T6M|LILRB4_uc010ers.1_Translation_Start_Site|LILRB4_uc002qgr.2_Missense_Mutation_p.T47M|LILRB4_uc010ert.2_Missense_Mutation_p.T47M|LILRB4_uc010eru.2_Missense_Mutation_p.T47M	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	6						integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		CCCACCTTCACGGCTCTGCTC	0.602		NA									OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	105					0	0	0	0
PLCL1	5334	broad.mit.edu	37	2	199011631	199011631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:199011631G>A	uc010fsp.2	+	6	3524	c.3233G>A	c.(3232-3234)CGC>CAC	p.R1078H	PLCL1_uc002uuv.3_Missense_Mutation_p.R999H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	1078					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	AAGAGCAAGCGCAGCCTGGAA	0.512		NA											12	31					0	0	0	0
FZD7	8324	broad.mit.edu	37	2	202899737	202899737	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:202899737C>T	uc002uyw.1	+	1	428	c.367C>T	c.(367-369)CTG>TTG	p.L123L		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	123	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|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			skin(2)|ovary(1)|breast(1)	4						GTGTCGTTCTCTGTGCGAGCG	0.642		NA									OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	65					0	0	0	0
C2orf57	165100	broad.mit.edu	37	2	232458286	232458286	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:232458286A>C	uc002vrz.2	+	1	675	c.624A>C	c.(622-624)GAA>GAC	p.E208D		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	208										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGAAGCTGAAGCTTTACCAT	0.582		NA											10	117					0	0	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875011	45875011	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr20:45875011G>A	uc002xta.1	-	14	2219	c.1965C>T	c.(1963-1965)AGC>AGT	p.S655S	ZMYND8_uc010ghq.1_Silent_p.S332S|ZMYND8_uc010ghr.1_Silent_p.S630S|ZMYND8_uc002xst.1_Silent_p.S583S|ZMYND8_uc002xsu.1_Silent_p.S655S|ZMYND8_uc002xsv.1_Silent_p.S583S|ZMYND8_uc002xsw.1_Silent_p.S407S|ZMYND8_uc002xsx.1_Silent_p.S407S|ZMYND8_uc002xsy.1_Silent_p.S630S|ZMYND8_uc002xsz.1_Silent_p.S592S|ZMYND8_uc010zxy.1_Silent_p.S682S|ZMYND8_uc002xtb.1_Silent_p.S675S|ZMYND8_uc002xss.2_Silent_p.S655S|ZMYND8_uc010zxz.1_Silent_p.S650S|ZMYND8_uc002xtc.1_Silent_p.S675S|ZMYND8_uc002xtd.1_Silent_p.S650S|ZMYND8_uc002xte.1_Silent_p.S655S|ZMYND8_uc010zya.1_Silent_p.S655S|ZMYND8_uc002xtf.1_Silent_p.S675S|ZMYND8_uc002xtg.2_Silent_p.S649S|ZMYND8_uc010ghs.1_Silent_p.S649S	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	655							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGCCTTCTCGCTGGCTGGTG	0.502		NA											39	194					0	0	0	0
GART	2618	broad.mit.edu	37	21	34897183	34897183	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr21:34897183T>C	uc002yrx.2	-	11	1326	c.1191A>G	c.(1189-1191)ATA>ATG	p.I397M	GART_uc002yrz.2_Missense_Mutation_p.I397M|GART_uc010gmd.2_Missense_Mutation_p.I59M|GART_uc002yry.2_Missense_Mutation_p.I397M|GART_uc002ysa.2_Missense_Mutation_p.I397M	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	397					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	CAAGGGCTGATATGAGATTTT	0.488		NA											34	70					0	0	0	0
LARGE	9215	broad.mit.edu	37	22	33780226	33780226	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr22:33780226G>A	uc003and.3	-	9	1536	c.957C>T	c.(955-957)ACC>ACT	p.T319T	LARGE_uc011amd.1_Silent_p.T118T|LARGE_uc003ane.3_Silent_p.T319T|LARGE_uc010gwp.2_Silent_p.T319T|LARGE_uc011ame.1_Silent_p.T251T|LARGE_uc011amf.1_Silent_p.T319T|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	319	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CCCTCTCTGCGGTCAGCCTCC	0.512		NA											6	152					0	0	0	0
C3orf39	84892	broad.mit.edu	37	3	43122688	43122688	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:43122688C>G	uc003cmq.1	-	2	377	c.236G>C	c.(235-237)TGC>TCC	p.C79S	C3orf39_uc003cmr.1_Missense_Mutation_p.C79S	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	79						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CTTGAAGCGGCAGATGCGGTC	0.617		NA											13	32					0	0	0	0
ARL13B	200894	broad.mit.edu	37	3	93769695	93769695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:93769695G>A	uc003drc.2	+	9	1455	c.1169G>A	c.(1168-1170)AGA>AAA	p.R390K	ARL13B_uc010hop.2_Missense_Mutation_p.R241K|ARL13B_uc003drd.2_Missense_Mutation_p.R283K|ARL13B_uc003dre.2_Missense_Mutation_p.R375K|ARL13B_uc003drf.2_Missense_Mutation_p.R390K|ARL13B_uc003drg.2_Missense_Mutation_p.R287K	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	390	Pro-rich.						GTP binding				0						AAAGTCACTAGACTTCCAAAA	0.368		NA											13	43					0	0	0	0
UROC1	131669	broad.mit.edu	37	3	126224562	126224562	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:126224562G>A	uc003eiz.1	-	8	827	c.795C>T	c.(793-795)TGC>TGT	p.C265C	UROC1_uc010hsi.1_Silent_p.C265C	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	265					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		TCACACCGATGCACCCCACGA	0.413		NA											15	37					0	0	0	0
MED12L	116931	broad.mit.edu	37	3	150908705	150908705	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:150908705A>T	uc003eyp.2	+	13	1993	c.1955A>T	c.(1954-1956)GAT>GTT	p.D652V	MED12L_uc011bnz.1_Missense_Mutation_p.D512V|MED12L_uc003eyn.2_Missense_Mutation_p.D652V|MED12L_uc003eyo.2_Missense_Mutation_p.D652V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	652					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGACCATGATGTGAAAATG	0.483		NA											11	35					0	0	0	0
PLD1	5337	broad.mit.edu	37	3	171394576	171394576	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:171394576C>T	uc003fhs.2	-	18	2160	c.2044G>A	c.(2044-2046)GCC>ACC	p.A682T	PLD1_uc003fht.2_Missense_Mutation_p.A644T|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Missense_Mutation_p.A7T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	682	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCAGAGGCAATGTCATGC	0.527		NA											13	78					0	0	0	0
LRRC15	131578	broad.mit.edu	37	3	194081302	194081302	+	Silent	SNP	G	G	A	rs143343570	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:194081302G>A	uc003ftu.2	-	2	557	c.471C>T	c.(469-471)CAC>CAT	p.H157H	LRRC15_uc003ftt.2_Silent_p.H163H	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	157	Extracellular (Potential).|LRR 5.					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGTGGTTGCCGTGCAACTGCA	0.572		NA											31	251					0	0	0	0
MAP9	79884	broad.mit.edu	37	4	156274418	156274418	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr4:156274418C>A	uc003ios.2	-	11	1719	c.1455G>T	c.(1453-1455)AAG>AAT	p.K485N	MAP9_uc011cin.1_Missense_Mutation_p.K460N|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.K484N	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	485	Potential.				cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTATTTTCTTTGCTTCCT	0.353		NA											10	53					1.77e-08	2.12e-08	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41065470	41065470	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:41065470G>A	uc003jmj.3	-	4	814	c.324C>T	c.(322-324)TTC>TTT	p.F108F		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	108							binding			ovary(6)|central_nervous_system(2)	8						CAAGCACAACGAATTCATCTG	0.418		NA											12	18					0	0	0	0
APC	324	broad.mit.edu	37	5	112173816	112173816	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:112173816A>T	uc010jby.2	+	16	2905	c.2525A>T	c.(2524-2526)GAT>GTT	p.D842V	APC_uc011cvt.1_Missense_Mutation_p.D824V|APC_uc003kpz.3_Missense_Mutation_p.D842V|APC_uc003kpy.3_Missense_Mutation_p.D842V|APC_uc010jbz.2_Missense_Mutation_p.D559V|APC_uc010jca.2_Missense_Mutation_p.D142V	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	842	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAAGCTTAGATAGTTCTCGT	0.403		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			17	43					0	0	0	0
RAD50	10111	broad.mit.edu	37	5	131911505	131911505	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:131911505C>T	uc003kxi.2	+	3	637	c.250C>T	c.(250-252)CTG>TTG	p.L84L	RAD50_uc003kxg.1_5'UTR|RAD50_uc003kxh.2_5'UTR	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	84					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGATTCGTCTGCAATTTCG	0.378		NA						Homologous_recombination					12	46					0	0	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146077680	146077680	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:146077680C>T	uc003loe.2	-	3	721	c.196G>A	c.(196-198)GAA>AAA	p.E66K	PPP2R2B_uc010jgm.2_Missense_Mutation_p.E55K|PPP2R2B_uc003log.3_Missense_Mutation_p.E66K|PPP2R2B_uc003lof.3_Missense_Mutation_p.E66K|PPP2R2B_uc003loi.3_Missense_Mutation_p.E69K|PPP2R2B_uc003loh.3_Missense_Mutation_p.E66K|PPP2R2B_uc003loj.3_Missense_Mutation_p.E46K|PPP2R2B_uc003lok.3_Missense_Mutation_p.E55K|PPP2R2B_uc011dbu.1_Missense_Mutation_p.E72K|PPP2R2B_uc011dbv.1_Missense_Mutation_p.E124K	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	66					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATTGTATTCACCCCTACGA	0.373		NA											33	52					0	0	0	0
WWC1	23286	broad.mit.edu	37	5	167812359	167812359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:167812359C>T	uc003lzu.2	+	3	466	c.373C>T	c.(373-375)CAG>TAG	p.Q125*	WWC1_uc003lzv.2_Nonsense_Mutation_p.Q125*|WWC1_uc011den.1_Nonsense_Mutation_p.Q125*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	125	Potential.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAGCTTGCACAGCAGGAGTA	0.587		NA											16	31					0	0	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205057	26205057	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:26205057T>G	uc003ngy.2	+	1	185	c.185T>G	c.(184-186)TTT>TGT	p.F62C		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	62					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				CTGAAGGTGTTTCTGGAAAAC	0.567		NA											13	88					0	0	0	0
C6orf27	80737	broad.mit.edu	37	6	31743155	31743155	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:31743155G>T	uc011dog.1	-	4	803	c.565C>A	c.(565-567)CCT>ACT	p.P189T	C6orf27_uc003nxd.2_5'UTR|C6orf27_uc011doh.1_RNA	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	189						extracellular region				ovary(3)	3						AGGAGGTGAGGGTGTGGCTGC	0.612		NA											18	31					5.35e-07	6.35e-07	1	0
FAM83B	222584	broad.mit.edu	37	6	54804590	54804590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:54804590G>A	uc003pck.2	+	5	937	c.821G>A	c.(820-822)AGA>AAA	p.R274K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	274										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAGAATTTAGAACTCTCTAT	0.423		NA											11	60					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90497660	90497660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:90497660G>A	uc003pnn.1	-	8	1363	c.1247C>T	c.(1246-1248)CCT>CTT	p.P416L	MDN1_uc003pno.1_5'Flank|MDN1_uc003pnp.1_Missense_Mutation_p.P416L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	416					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCAAGAGAGGGATCAGCAC	0.408		NA											25	36					0	0	0	0
MIOS	54468	broad.mit.edu	37	7	7636027	7636027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:7636027G>A	uc003srf.2	+	11	2644	c.2336G>A	c.(2335-2337)CGA>CAA	p.R779Q	MIOS_uc003srg.2_Missense_Mutation_p.R314Q|MIOS_uc010ktq.2_Missense_Mutation_p.R174Q	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	779											0						CCTGGCTGTCGAAAACCACTT	0.428		NA											11	154					0	0	0	0
SEMA3C	10512	broad.mit.edu	37	7	80435066	80435066	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:80435066G>A	uc003uhj.2	-	7	1109	c.547C>T	c.(547-549)CTT>TTT	p.L183F	SEMA3C_uc011kgw.1_Missense_Mutation_p.L201F|SEMA3C_uc011kgx.1_Missense_Mutation_p.L35F	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	183	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						CCAGAGAAAAGCTCCTCATCT	0.323		NA											17	34					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82387992	82387992	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:82387992T>G	uc003uhx.2	-	25	15617	c.15328A>C	c.(15328-15330)ACC>CCC	p.T5110P		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5033	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCAATCAAGGTCTTTTTCATA	0.333		NA											32	107					0	0	0	0
PODXL	5420	broad.mit.edu	37	7	131194197	131194197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:131194197C>T	uc003vqw.3	-	4	1208	c.950G>A	c.(949-951)AGC>AAC	p.S317N	PODXL_uc003vqx.3_Missense_Mutation_p.S285N	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	317	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					TGCTGTGGGGCTGGAGCTCAT	0.602		NA											45	85					0	0	0	0
LONRF1	91694	broad.mit.edu	37	8	12586780	12586780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:12586780G>C	uc003wwd.1	-	9	1813	c.1750C>G	c.(1750-1752)CTC>GTC	p.L584V	LONRF1_uc011kxv.1_Missense_Mutation_p.L173V|LONRF1_uc010lsp.1_Missense_Mutation_p.L184V	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	584	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		AATACATGGAGAGGGCAAGGC	0.388		NA											19	59					0	0	0	0
PURG	29942	broad.mit.edu	37	8	30890027	30890027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:30890027C>T	uc003xin.2	-	1	291	c.272G>A	c.(271-273)TGG>TAG	p.W91*	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Nonsense_Mutation_p.W91*	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	91	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TCTCCCTATCCAGACTTCGGC	0.547		NA											21	36					0	0	0	0
TM7SF4	81501	broad.mit.edu	37	8	105367322	105367322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:105367322G>A	uc003ylx.1	+	3	1296	c.1247G>A	c.(1246-1248)CGC>CAC	p.R416H		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	416	Cytoplasmic.				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGAGGAAGCGCATCCAATAT	0.443		NA											5	83					0	0	0	0
EIF3H	8667	broad.mit.edu	37	8	117671059	117671059	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:117671059G>A	uc003yoa.2	-	3	476	c.450C>T	c.(448-450)CTC>CTT	p.L150L	EIF3H_uc003yob.2_Silent_p.L164L|EIF3H_uc011lhz.1_Silent_p.L150L	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	150					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AACCATAAATGAGAACGACAG	0.413		NA											24	107					0	0	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503904	71503904	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:71503904T>A	uc004agu.2	+	7	631	c.326T>A	c.(325-327)ATC>AAC	p.I109N	PIP5K1B_uc011lrq.1_Missense_Mutation_p.I109N|PIP5K1B_uc004agv.2_RNA	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	109	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			stomach(1)	1				Lung(182;0.133)		TAGTATTCCATCTGCAGTGAA	0.383		NA											41	68					0	0	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88293287	88293287	+	Silent	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:88293287A>T	uc011ltd.1	-	4	285	c.252T>A	c.(250-252)CTT>CTA	p.L84L	AGTPBP1_uc011ltc.1_Silent_p.L26L|AGTPBP1_uc010mqc.2_Silent_p.L84L|AGTPBP1_uc011lte.1_Silent_p.L136L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	84					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						TTAAGATATTAAGTGTAGTTT	0.308		NA											4	15					0	0	0	0
C9orf156	51531	broad.mit.edu	37	9	100672670	100672670	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:100672670T>C	uc004axv.1	-	4	715	c.638A>G	c.(637-639)CAT>CGT	p.H213R	C9orf156_uc004axw.1_Missense_Mutation_p.H110R|C9orf156_uc004axx.1_Missense_Mutation_p.H67R|C9orf156_uc010msq.1_Missense_Mutation_p.H110R	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	213					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				CTTAGTGCTATGGTGGGGTTG	0.473		NA											17	42					0	0	0	0
ODF2	4957	broad.mit.edu	37	9	131221864	131221864	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:131221864G>A	uc011mbd.1	+	3	362	c.51G>A	c.(49-51)AAG>AAA	p.K17K	ODF2_uc011maz.1_Silent_p.K17K|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_5'UTR|ODF2_uc011mbb.1_5'UTR|ODF2_uc011mbc.1_5'UTR|ODF2_uc004bva.2_5'UTR|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_5'UTR|ODF2_uc004bvc.2_5'UTR|ODF2_uc010myc.2_Silent_p.K17K|ODF2_uc011mbf.1_Silent_p.K17K|ODF2_uc004bvd.3_Silent_p.K17K|ODF2_uc004bve.2_Silent_p.K17K	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	17					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						CGTGTGGGAAGAACGGAGTAA	0.483		NA											9	13					0	0	0	0
FANCB	2187	broad.mit.edu	37	X	14883285	14883285	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:14883285A>G	uc004cwg.1	-	3	616	c.348T>C	c.(346-348)AAT>AAC	p.N116N	FANCB_uc004cwh.1_Silent_p.N116N	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	116					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					TTTCAAATTTATTAGTACTGT	0.318		NA						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				15	48					0	0	0	0
CXorf21	80231	broad.mit.edu	37	X	30577998	30577998	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:30577998A>T	uc004dcg.1	-	3	751	c.475T>A	c.(475-477)TCT>ACT	p.S159T		NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	hypothetical protein LOC80231	159										ovary(1)	1						GGAATCTCAGATGACTTCAGC	0.453		NA											22	54					0	0	0	0
FAM47C	442444	broad.mit.edu	37	X	37026592	37026592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:37026592C>T	uc004ddl.1	+	1	123	c.109C>T	c.(109-111)CGC>TGC	p.R37C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	37										ovary(3)	3						CAAGCACAGGCGCCTGAGGTT	0.617		NA											17	25					0	0	0	0
ZNF630	57232	broad.mit.edu	37	X	47918974	47918974	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:47918974G>A	uc004div.3	-	5	1109	c.857C>T	c.(856-858)ACT>ATT	p.T286I	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.T162I	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						TTTCTCTCCAGTATGAATTCT	0.388		NA											32	100					0	0	0	0
HEPH	9843	broad.mit.edu	37	X	65476116	65476116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:65476116A>G	uc011moz.1	+	17	2909	c.2849A>G	c.(2848-2850)GAT>GGT	p.D950G	HEPH_uc004dwn.2_Missense_Mutation_p.D950G|HEPH_uc004dwo.2_Missense_Mutation_p.D680G|HEPH_uc010nkr.2_Missense_Mutation_p.D758G|HEPH_uc011mpa.1_Missense_Mutation_p.D950G|HEPH_uc010nks.2_Missense_Mutation_p.D239G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	947	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GGGTCCCAGGATCCAGGCAGT	0.413		NA											23	87					0	0	0	0
PIGK	10026	broad.mit.edu	37	1	77632420	77632420	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:77632420delA	uc001dhk.2	-	5	516	c.471delT	c.(469-471)ATTfs	p.I157fs	PIGK_uc010orj.1_Frame_Shift_Del_p.I81fs|PIGK_uc009wbx.2_Frame_Shift_Del_p.I63fs|PIGK_uc001dhl.1_Frame_Shift_Del_p.I157fs	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	157	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						TATAAATTAGAATATTGCTTC	0.333		NA											18	33	---	---	---	---	NA	NA	NA	NA
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:89448604_89448605insGG	uc009wcx.2	-	3	1621_1622	c.905_906insCC	c.(904-906)CCAfs	p.P302fs	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Frame_Shift_Ins_p.P302fs	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.						nucleotide binding|RNA binding				0						CACCATAAGATGGCGGGGGCCC	0.475		NA											8	311	---	---	---	---	NA	NA	NA	NA
USP21	27005	broad.mit.edu	37	1	161132797	161132798	+	Frame_Shift_Ins	INS	-	-	T	rs147410329		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:161132797_161132798insT	uc010pke.1	+	7	1359_1360	c.982_983insT	c.(982-984)CTTfs	p.L328fs	USP21_uc010pkc.1_Frame_Shift_Ins_p.L328fs|USP21_uc010pkd.1_Frame_Shift_Ins_p.L328fs|USP21_uc010pkf.1_Frame_Shift_Ins_p.L328fs	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	328					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCACCGATACTTGCCAATGGT	0.594		NA											40	88	---	---	---	---	NA	NA	NA	NA
IAH1	285148	broad.mit.edu	37	2	9628388	9628388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:9628388delT	uc002qzr.2	+	6	703	c.677delT	c.(676-678)CTGfs	p.L226fs	IAH1_uc002qzs.2_Frame_Shift_Del_p.L113fs|IAH1_uc002qzt.2_Frame_Shift_Del_p.L113fs|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	226					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACCTTTGCTGCTTCCTTAC	0.433		NA											36	84	---	---	---	---	NA	NA	NA	NA
CD207	50489	broad.mit.edu	37	2	71060135	71060136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:71060135_71060136insC	uc002shg.2	-	4	659_660	c.612_613insG	c.(610-615)GGGAACfs	p.G204fs		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	204_205	C-type lectin.|Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						TAATAGAAGTTCCCCTTGAAGT	0.446		NA											21	61	---	---	---	---	NA	NA	NA	NA
PLSCR1	5359	broad.mit.edu	37	3	146246480	146246494	+	In_Frame_Del	DEL	ACTGGCTGATTATAT	ACTGGCTGATTATAT	-	rs147509085	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:146246480_146246494delACTGGCTGATTATAT	uc003evx.3	-	4	607_621	c.219_233delATATAATCAGCCAGT	c.(217-234)GTATATAATCAGCCAGTT>GTT	p.73_78VYNQPV>V	PLSCR1_uc003evy.3_In_Frame_Del_p.66_71VYNQPV>V|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_In_Frame_Del_p.73_78VYNQPV>V	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	73_78	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						TGCAGCTCCAACTGGCTGATTATATACTGGCTGAT	0.521		NA											9	124	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187629852	187629853	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr4:187629852_187629853insT	uc003izf.2	-	2	1317_1318	c.1129_1130insA	c.(1129-1131)AGTfs	p.S377fs	FAT1_uc010iso.1_Frame_Shift_Ins_p.S377fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	377	Extracellular (Potential).|Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AGCAAATTCACTTATTTCTGCT	0.431		NA								HNSCC(5;0.00058)			36	50	---	---	---	---	NA	NA	NA	NA
GTF3C6	112495	broad.mit.edu	37	6	111288940	111288941	+	Frame_Shift_Ins	INS	-	-	T	rs41289884	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:111288940_111288941insT	uc003pum.2	+	6	799_800	c.589_590insT	c.(589-591)ATAfs	p.I197fs		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide	197						transcription factor TFIIIC complex	DNA binding|protein binding				0		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TCTTATTGATATACCTTCTGAG	0.371		NA											35	78	---	---	---	---	NA	NA	NA	NA
