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
CASZ1	54897	broad.mit.edu	37	1	10714479	10714479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:10714479C>T	uc001aro.2	-	10	2155	c.1835G>A	c.(1834-1836)TGC>TAC	p.C612Y	CASZ1_uc001arp.1_Missense_Mutation_p.C612Y|CASZ1_uc009vmx.2_Missense_Mutation_p.C636Y	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	612	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCTTACCTGCAGTGGAAGTG	0.652		NA											24	51					0	0	0	0
LOC440563	440563	broad.mit.edu	37	1	13183372	13183373	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:13183372_13183373CC>AA	uc010obg.1	-	1	595_596	c.500_501GG>TT	c.(499-501)CGG>CTT	p.R167L		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	167						ribonucleoprotein complex	nucleic acid binding|nucleotide binding				0						TGGAAGATCCCCGCTTTCCACT	0.495		NA											17	813					0	0	0	0
SERBP1	26135	broad.mit.edu	37	1	67895933	67895933	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:67895933G>C	uc001ddv.2	-	1	191	c.51C>G	c.(49-51)TTC>TTG	p.F17L	SERBP1_uc001ddx.2_Missense_Mutation_p.F17L|SERBP1_uc001ddy.2_Missense_Mutation_p.F17L|SERBP1_uc001ddw.2_Missense_Mutation_p.F17L	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	17					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						ATAACTGGTCGAATCGGTTGG	0.642		NA											51	42					0	0	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129105	150129105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:150129105G>T	uc001ett.2	+	4	597	c.319G>T	c.(319-321)GCA>TCA	p.A107S	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	107	PH.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTCACAGGCACCCAACCT	0.478		NA											10	64					3.07e-06	2.22e-05	1	0
USP6NL	9712	broad.mit.edu	37	10	11505354	11505354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:11505354C>T	uc001ikt.3	-	15	1894	c.1573G>A	c.(1573-1575)GTG>ATG	p.V525M	USP6NL_uc001iks.1_Missense_Mutation_p.V542M	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	525						intracellular	Rab GTPase activator activity				0						GACACCCGCACCTCGGCAGGA	0.622		NA											50	131					0	0	0	0
BLNK	29760	broad.mit.edu	37	10	97987176	97987176	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:97987176G>A	uc001kls.3	-	5	529	c.351C>T	c.(349-351)GGC>GGT	p.G117G	BLNK_uc001kme.3_Silent_p.G35G|BLNK_uc001klt.3_Splice_Site_p.D35_splice|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Silent_p.G35G|BLNK_uc001klv.3_Splice_Site_p.G117_splice|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.G117G|BLNK_uc001kly.3_Silent_p.G117G|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Silent_p.G117G|BLNK_uc001kmb.3_Splice_Site|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.G35G|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	117	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTATATACTCGCCTCTGGCGA	0.652		NA											35	61					0	0	0	0
NRAP	4892	broad.mit.edu	37	10	115391662	115391662	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:115391662G>A	uc001laj.2	-	17	1858	c.1694C>T	c.(1693-1695)GCC>GTC	p.A565V	NRAP_uc009xyb.2_5'Flank|NRAP_uc001lak.2_Missense_Mutation_p.A530V|NRAP_uc001lal.3_Missense_Mutation_p.A565V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	565	Nebulin 13.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGAGACATGGCATCCAGCTT	0.448		NA											53	74					0	0	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402557	65402557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr11:65402557C>T	uc001oey.2	+	30	4919	c.4919C>T	c.(4918-4920)GCG>GTG	p.A1640V	PCNXL3_uc001oez.2_Missense_Mutation_p.A527V	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1640						integral to membrane					0						CGCGTTGTGGCGCCTGGGGTT	0.647		NA											10	26					0	0	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794765	124794765	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr11:124794765G>C	uc001qbk.2	-	2	692	c.286C>G	c.(286-288)CGA>GGA	p.R96G	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.R96G	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	96	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATACGGTCTCGATAGTCAGGC	0.592		NA											45	74					0	0	0	0
ENO2	2026	broad.mit.edu	37	12	7025014	7025014	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:7025014C>T	uc001qru.1	+	2	240	c.18C>T	c.(16-18)ATC>ATT	p.I6I	ENO2_uc009zfi.1_Silent_p.I6I|ENO2_uc010sfq.1_Silent_p.I6I|ENO2_uc001qrv.1_Silent_p.I6I	NM_001975	NP_001966	P09104	ENOG_HUMAN	enolase 2	6					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity				0						TAGAGAAGATCTGGGCCCGGG	0.577		NA											64	282					0	0	0	0
ADCY6	112	broad.mit.edu	37	12	49176996	49176996	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:49176996G>A	uc001rsh.3	-	1	882	c.222C>T	c.(220-222)GGC>GGT	p.G74G	ADCY6_uc001rsj.3_Silent_p.G74G|ADCY6_uc001rsi.3_Silent_p.G74G	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	74	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	ATP binding|metal ion binding				0						TGCCTGGGCCGCCCCTCCGGA	0.721		NA											22	35					0	0	0	0
DNAJC14	85406	broad.mit.edu	37	12	56182870	56182870	+	Missense_Mutation	SNP	T	T	C	rs138765992		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:56182870T>C	uc001shu.1	-	14	2595	c.2539A>G	c.(2539-2541)ATC>GTC	p.I847V	SARNP_uc009zoa.2_RNA|SARNP_uc001shs.3_RNA|SARNP_uc001sht.2_Missense_Mutation_p.I164V	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	Error:Variant_position_missing_in_Q6Y2X3_after_alignment					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TTTCTGGAGATTGAAGAGACA	0.368		NA											30	70					0	0	0	0
UBE3B	89910	broad.mit.edu	37	12	109972570	109972570	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:109972570G>T	uc001top.2	+	28	3793	c.3190G>T	c.(3190-3192)GGC>TGC	p.G1064C	UBE3B_uc001toq.2_Missense_Mutation_p.G1064C|UBE3B_uc001tos.2_Missense_Mutation_p.G491C|UBE3B_uc001tot.2_Missense_Mutation_p.G182C|UBE3B_uc010sxp.1_3'UTR	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1064	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CATGAACACGGGCTTTGAACT	0.617		NA											5	91					0.000602214	0.00405856	1	0
FREM2	341640	broad.mit.edu	37	13	39262438	39262438	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr13:39262438G>A	uc001uwv.2	+	1	1266	c.957G>A	c.(955-957)AAG>AAA	p.K319K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	319	CSPG 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGCACCCAAGCCCAGTTTCG	0.607		NA											20	22					0	0	0	0
PKM2	5315	broad.mit.edu	37	15	72501133	72501133	+	Missense_Mutation	SNP	G	G	A	rs143294717		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr15:72501133G>A	uc002atx.1	-	6	906	c.665C>T	c.(664-666)TCG>TTG	p.S222L	PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_5'UTR|PKM2_uc002atu.1_5'UTR|PKM2_uc010bit.1_Missense_Mutation_p.S227L|PKM2_uc010uki.1_Missense_Mutation_p.S296L|PKM2_uc002atv.1_Missense_Mutation_p.S257L|PKM2_uc002atw.1_Missense_Mutation_p.S222L|PKM2_uc002aty.1_Missense_Mutation_p.S222L|PKM2_uc010ukj.1_Missense_Mutation_p.S207L|PKM2_uc010ukk.1_Missense_Mutation_p.S148L|PKM2_uc010biu.1_Missense_Mutation_p.S243L|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	222					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	GTCCTTCTCCGACACAGCAGG	0.547		NA											36	78					0	0	0	0
PRSS22	64063	broad.mit.edu	37	16	2905603	2905603	+	Silent	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr16:2905603G>T	uc002cry.1	-	4	597	c.531C>A	c.(529-531)ATC>ATA	p.I177I	PRSS22_uc002crz.1_Intron	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22 precursor	177	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1						CCCAGCCTGAGATCCAGCAGT	0.602		NA											14	48					2.62e-11	1.94e-10	1	0
STAC2	342667	broad.mit.edu	37	17	37371437	37371437	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr17:37371437G>A	uc002hrs.2	-	5	852	c.633C>T	c.(631-633)GGC>GGT	p.G211G	STAC2_uc010cvt.2_Silent_p.G69G	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	211					intracellular signal transduction		metal ion binding			pancreas(1)	1						CCAGGGAGGTGCCATAGCGCA	0.592		NA											32	59					0	0	0	0
LIPG	9388	broad.mit.edu	37	18	47101893	47101893	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr18:47101893C>T	uc002ldv.2	+	5	978	c.726C>T	c.(724-726)TAC>TAT	p.Y242Y	LIPG_uc002ldu.1_Silent_p.Y242Y|LIPG_uc010xdh.1_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	242					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						TTGACATCTACCCCAATGGGG	0.507		NA											8	85					0	0	0	0
RPL36	25873	broad.mit.edu	37	19	5691333	5691333	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:5691333C>G	uc002mcv.2	+	3	166	c.97C>G	c.(97-99)CTG>GTG	p.L33V	RPL36_uc002mcw.2_Missense_Mutation_p.L33V	NM_033643	NP_378669	Q9Y3U8	RL36_HUMAN	ribosomal protein L36	33					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome				0						CCCCTAGCGTCTGACCAAACA	0.602		NA									OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	68					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9074800	9074800	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:9074800T>G	uc002mkp.2	-	3	12850	c.12646A>C	c.(12646-12648)AGT>CGT	p.S4216R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4218	Thr-rich.|Extracellular (Potential).|Ser-rich.				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						GGAGGTAAACTTGTGCCAGGT	0.498		NA											11	62					0	0	0	0
COL5A3	50509	broad.mit.edu	37	19	10077031	10077032	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:10077031_10077032CC>TT	uc002mmq.1	-	64	4826_4827	c.4740_4741GG>AA	c.(4738-4743)GCGGGA>GCAAGA	p.G1581R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1581	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GTCTCTCCTCCCGCCGTGAAGT	0.599		NA											19	26					0	0	0	0
NWD1	284434	broad.mit.edu	37	19	16902349	16902349	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:16902349C>G	uc002neu.3	+	14	3551	c.3129C>G	c.(3127-3129)ATC>ATG	p.I1043M	NWD1_uc002net.3_Missense_Mutation_p.I908M|NWD1_uc002nev.3_Missense_Mutation_p.I837M			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1043							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						TGTCCAGCATCAAAGAAGAAA	0.517		NA											34	69					0	0	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728546	20728546	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:20728546G>C	uc002npa.2	-	4	643	c.463C>G	c.(463-465)CAT>GAT	p.H155D		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	155					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GAAAATTTATGAATGACTTTC	0.308		NA											17	29					0	0	0	0
ZNF383	163087	broad.mit.edu	37	19	37733547	37733547	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:37733547C>G	uc002oft.1	+	8	989	c.409C>G	c.(409-411)CAT>GAT	p.H137D	ZNF383_uc002ofs.1_Missense_Mutation_p.H72D|ZNF383_uc002ofu.1_Missense_Mutation_p.H137D	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCAAATGGGCATTTTAGTCA	0.373		NA											49	109					0	0	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56732960	56732960	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:56732960T>G	uc002qmq.2	-	5	1641	c.1475A>C	c.(1474-1476)GAA>GCA	p.E492A	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.E375A|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.E492A|ZSCAN5A_uc002qms.1_Missense_Mutation_p.E491A	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	492					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						AGAAGTAGCTTCTGGATGTGT	0.433		NA											30	50					0	0	0	0
PRKD3	23683	broad.mit.edu	37	2	37505102	37505102	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr2:37505102C>T	uc002rqd.2	-	8	1758	c.1203G>A	c.(1201-1203)ATG>ATA	p.M401I	PRKD3_uc002rqe.1_Missense_Mutation_p.M1I|PRKD3_uc002rqf.1_Missense_Mutation_p.M401I	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	401					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				GTACAACCCTCATTAGCGGAA	0.363		NA											15	99					0	0	0	0
NXPH2	11249	broad.mit.edu	37	2	139429083	139429083	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr2:139429083G>A	uc002tvi.2	-	2	204	c.204C>T	c.(202-204)CCC>CCT	p.P68P		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	68	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCATGGGGCCGGGCTTGGGCA	0.552		NA											52	107					0	0	0	0
IKZF2	22807	broad.mit.edu	37	2	213878609	213878609	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr2:213878609A>C	uc002vem.2	-	7	931	c.762T>G	c.(760-762)AAT>AAG	p.N254K	IKZF2_uc010fuu.2_Missense_Mutation_p.N109K|IKZF2_uc002vej.2_Missense_Mutation_p.N201K|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Intron|IKZF2_uc002vel.2_Missense_Mutation_p.N175K|IKZF2_uc010fuw.2_Missense_Mutation_p.N28K|IKZF2_uc010fux.2_Missense_Mutation_p.N28K|IKZF2_uc010fuy.2_Missense_Mutation_p.N182K|IKZF2_uc002ven.2_Missense_Mutation_p.N228K|IKZF2_uc002vei.2_Missense_Mutation_p.N32K	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCAGAGAAATATTGTTGTCCA	0.393		NA											12	61					0	0	0	0
DIRC2	84925	broad.mit.edu	37	3	122598138	122598139	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:122598138_122598139CG>AT	uc003efw.3	+	9	1489_1490	c.1350_1351CG>AT	c.(1348-1353)CCCGGG>CCATGG	p.G451W	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.G289W|uc003efx.1_RNA	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	451	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		GGTGCCTTCCCGGGTCGTGTTT	0.455		NA											11	675					0	0	0	0
ATR	545	broad.mit.edu	37	3	142176456	142176456	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:142176456G>T	uc003eux.3	-	45	7767	c.7645C>A	c.(7645-7647)CCT>ACT	p.P2549T	ATR_uc003euy.1_Missense_Mutation_p.P435T	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2549	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						CTCATTAAAGGCTCTCGCTGA	0.373		NA						Other_conserved_DNA_damage_response_genes					40	38					1.23e-20	9.22e-20	1	0
ALG3	10195	broad.mit.edu	37	3	183960340	183960340	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:183960340A>G	uc003fne.2	-	9	1310	c.1279T>C	c.(1279-1281)TTC>CTC	p.F427L	ALG3_uc011brc.1_Missense_Mutation_p.F392L|ALG3_uc011brd.1_Missense_Mutation_p.F371L|ALG3_uc011bre.1_Missense_Mutation_p.F379L	NM_005787	NP_005778	Q92685	ALG3_HUMAN	alpha-1,3-mannosyltransferase ALG3 isoform a	427	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity				0	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCTTGGGGAAAGGCTGCGGG	0.597		NA											44	154					0	0	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185363333	185363333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:185363333G>A	uc003fpo.2	-	16	1865	c.1786C>T	c.(1786-1788)CAG>TAG	p.Q596*	IGF2BP2_uc010hyi.2_Nonsense_Mutation_p.Q539*|IGF2BP2_uc010hyj.2_Nonsense_Mutation_p.Q533*|IGF2BP2_uc010hyk.2_Nonsense_Mutation_p.Q460*|IGF2BP2_uc010hyl.2_Nonsense_Mutation_p.Q490*|IGF2BP2_uc003fpp.2_Nonsense_Mutation_p.Q553*|IGF2BP2_uc003fpq.2_Nonsense_Mutation_p.Q601*	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	596					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTGCTGCGCTGTGAGGCGACT	0.547		NA											100	46					0	0	0	0
PCGF3	10336	broad.mit.edu	37	4	755159	755159	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:755159G>A	uc011bva.1	+	10	1030	c.555G>A	c.(553-555)CTG>CTA	p.L185L	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Silent_p.L185L|PCGF3_uc010ibh.2_Silent_p.L185L|PCGF3_uc003gbg.1_Silent_p.L151L|PCGF3_uc003gbh.2_Silent_p.L151L	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						TCTTGCATCTGAAGAAGTTCA	0.498		NA											6	67					0	0	0	0
GABRA2	2555	broad.mit.edu	37	4	46388201	46388201	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:46388201A>G	uc003gxc.3	-	2	750	c.77T>C	c.(76-78)GTG>GCG	p.V26A	GABRA2_uc010igc.2_Missense_Mutation_p.V26A|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Missense_Mutation_p.V26A|GABRA2_uc010igd.1_Missense_Mutation_p.V26A	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	26					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTTAGCCAGCACCAACCTAAA	0.343		NA											9	18					0	0	0	0
POLR2B	5431	broad.mit.edu	37	4	57896547	57896547	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:57896547C>T	uc003hcl.1	+	24	3460	c.3417C>T	c.(3415-3417)GGC>GGT	p.G1139G	POLR2B_uc011cae.1_Silent_p.G1132G|POLR2B_uc011caf.1_Silent_p.G1064G|POLR2B_uc003hcm.1_Silent_p.G632G	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	1139	C4-type.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					AATGCAGGGGCTGCCGCAATA	0.433		NA											17	20					0	0	0	0
ETFDH	2110	broad.mit.edu	37	4	159620266	159620266	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:159620266A>G	uc003iqb.2	+	9	1432	c.1100A>G	c.(1099-1101)AAT>AGT	p.N367S	ETFDH_uc011cjg.1_Missense_Mutation_p.N320S|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Missense_Mutation_p.N306S|ETFDH_uc010iqs.2_Missense_Mutation_p.N289S	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	367					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGAGCTCTCAATGAAGGTGGC	0.378		NA											16	14					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187517826	187517826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:187517826C>A	uc003izf.2	-	25	13056	c.12868G>T	c.(12868-12870)GAG>TAG	p.E4290*	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Nonsense_Mutation_p.E181*	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4290	Cytoplasmic (Potential).				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						TGCACAGACTCGGGGTTAAAA	0.557		NA								HNSCC(5;0.00058)			22	12					8.1e-08	5.93e-07	1	0
EGFLAM	133584	broad.mit.edu	37	5	38464067	38464067	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:38464067C>G	uc003jlc.1	+	23	3357	c.3033C>G	c.(3031-3033)ATC>ATG	p.I1011M	EGFLAM_uc003jlb.1_Missense_Mutation_p.I1003M|EGFLAM_uc003jle.1_Missense_Mutation_p.I769M|EGFLAM_uc003jlf.1_Missense_Mutation_p.I369M|EGFLAM_uc003jlg.1_Missense_Mutation_p.I146M|EGFLAM_uc003jlh.1_Missense_Mutation_p.I93M	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	1011	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GGAAAAACATCAACACTTGTG	0.527		NA											7	94					0	0	0	0
KIF3A	11127	broad.mit.edu	37	5	132037805	132037805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:132037805C>G	uc003kxo.2	-	13	1931	c.1777G>C	c.(1777-1779)GAT>CAT	p.D593H	KIF3A_uc003kxm.2_Missense_Mutation_p.D175H|KIF3A_uc003kxn.2_Missense_Mutation_p.D578H|KIF3A_uc011cxf.1_Missense_Mutation_p.D620H|KIF3A_uc003kxp.2_Missense_Mutation_p.D596H	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	593					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAAGTTATCAATAATAAGC	0.413		NA											26	22					0	0	0	0
BTNL8	79908	broad.mit.edu	37	5	180335857	180335857	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:180335857G>T	uc003mmp.2	+	2	555	c.321G>T	c.(319-321)TTG>TTT	p.L107F	BTNL8_uc003mmq.2_Missense_Mutation_p.L107F|BTNL8_uc011dhg.1_Intron|BTNL8_uc010jll.2_Missense_Mutation_p.L107F|BTNL8_uc010jlm.2_Intron|BTNL8_uc011dhh.1_5'Flank	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	107	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACTGTGTTGGATGCTGGCC	0.473		NA											13	207					1.5e-05	0.000105503	1	0
BTNL8	79908	broad.mit.edu	37	5	180335874	180335874	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:180335874G>T	uc003mmp.2	+	2	572	c.338G>T	c.(337-339)GGG>GTG	p.G113V	BTNL8_uc003mmq.2_Missense_Mutation_p.G113V|BTNL8_uc011dhg.1_Intron|BTNL8_uc010jll.2_Missense_Mutation_p.G113V|BTNL8_uc010jlm.2_Intron|BTNL8_uc011dhh.1_5'Flank	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	113	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCTCTATGGGTGCAGGATT	0.478		NA											12	209					0.000151284	0.0010449	1	0
PHACTR1	221692	broad.mit.edu	37	6	13230292	13230292	+	Silent	SNP	A	A	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr6:13230292A>C	uc010jpc.2	+	10	1590	c.1258A>C	c.(1258-1260)AGG>CGG	p.R420R	PHACTR1_uc011dir.1_Silent_p.R489R|PHACTR1_uc003nag.1_Silent_p.R420R|PHACTR1_uc003nah.1_Silent_p.R420R	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	420						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAAGGTCTGCAGGAAGGACTC	0.547		NA											4	6					0	0	0	0
OGDH	4967	broad.mit.edu	37	7	44747333	44747333	+	Silent	SNP	C	C	G	rs1135689		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr7:44747333C>G	uc003tln.2	+	22	3058	c.2949C>G	c.(2947-2949)GTC>GTG	p.V983V	OGDH_uc011kbx.1_Silent_p.V979V|OGDH_uc011kby.1_Silent_p.V833V|OGDH_uc003tlp.2_Silent_p.V994V|OGDH_uc011kbz.1_Silent_p.V778V	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	983					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	CCAAGCCCGTCTGGTAAGGCT	0.612		NA											29	52					0	0	0	0
EGFR	1956	broad.mit.edu	37	7	55210002	55210002	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr7:55210002C>G	uc003tqk.2	+	2	358	c.112C>G	c.(112-114)CTC>GTC	p.L38V	EGFR_uc003tqh.2_Missense_Mutation_p.L38V|EGFR_uc003tqi.2_Missense_Mutation_p.L38V|EGFR_uc003tqj.2_Missense_Mutation_p.L38V|EGFR_uc010kzg.1_Missense_Mutation_p.L38V|EGFR_uc011kco.1_5'UTR	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	38	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGTAACAAGCTCACGCAGTT	0.408		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			33	62					0	0	0	0
TEX15	56154	broad.mit.edu	37	8	30705568	30705568	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr8:30705568A>T	uc003xil.2	-	1	966	c.966T>A	c.(964-966)GAT>GAA	p.D322E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	322										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGCTAGATGATCTAGTTCAT	0.343		NA											13	29					0	0	0	0
ABO	28	broad.mit.edu	37	9	136132874	136132874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr9:136132874G>A	uc004cda.1	-	7	321	c.296C>T	c.(295-297)ACA>ATA	p.T99I	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_Intron|ABO_uc010nag.1_5'UTR	NM_020469	NP_065202	P16442	BGAT_HUMAN	ABO blood group (alpha	99	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GATGTTGAATGTGCCCTCCCA	0.557		NA											33	38					0	0	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911661	100911661	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:100911661T>C	uc004eid.2	-	3	1269	c.914A>G	c.(913-915)GAC>GGC	p.D305G	ARMCX2_uc004eie.3_Missense_Mutation_p.D305G|ARMCX2_uc004eif.3_Missense_Mutation_p.D305G|ARMCX2_uc004eig.3_Missense_Mutation_p.D305G|ARMCX2_uc010nnt.2_Missense_Mutation_p.D305G	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	305						integral to membrane	binding	p.D305D(1)		ovary(6)	6						CCCCAGTTCGTCTACTTCAAC	0.587		NA											64	27					0	0	0	0
ZNF449	203523	broad.mit.edu	37	X	134483238	134483238	+	Silent	SNP	T	T	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:134483238T>G	uc004eys.2	+	3	723	c.558T>G	c.(556-558)CCT>CCG	p.P186P	ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.2_Silent_p.P66P	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	186					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGACCCTGGTAAGGCAA	0.512		NA											16	39					0	0	0	0
OPN1LW	5956	broad.mit.edu	37	X	153420103	153420103	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:153420103C>A	uc004fjz.3	+	4	666	c.633C>A	c.(631-633)AGC>AGA	p.S211R		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	211	Extracellular.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCGGCAGCTCGTACCCCG	0.607		NA											45	16					2.7e-25	2.04e-24	1	0
RAD54L	8438	broad.mit.edu	37	1	46726555	46726556	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:46726555_46726556insAC	uc009vye.2	+	8	748_749	c.634_635insAC	c.(634-636)GACfs	p.D212fs	RAD54L_uc001cpl.2_Frame_Shift_Ins_p.D212fs|RAD54L_uc001cpm.1_Frame_Shift_Ins_p.D32fs	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	212	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GCCAGAAATTGACAAGGCAGTG	0.535		NA						Direct_reversal_of_damage|Homologous_recombination					30	69	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7578471	7578478	+	Frame_Shift_Del	DEL	GGGCGGGG	GGGCGGGG	-	rs137852791		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr17:7578471_7578478delGGGCGGGG	uc002gim.2	-	5	646_653	c.452_459delCCCCGCCC	c.(451-459)CCCCCGCCCfs	p.P151fs	TP53_uc002gig.1_Frame_Shift_Del_p.P151fs|TP53_uc002gih.2_Frame_Shift_Del_p.P151fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P19fs|TP53_uc010cng.1_Frame_Shift_Del_p.P19fs|TP53_uc002gii.1_Frame_Shift_Del_p.P19fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P151fs|TP53_uc010cni.1_Frame_Shift_Del_p.P151fs|TP53_uc002gij.2_Frame_Shift_Del_p.P151fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P58fs|TP53_uc002gio.2_Frame_Shift_Del_p.P19fs|TP53_uc010vug.1_Frame_Shift_Del_p.P112fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	151_153	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> T (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> S (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.P151S(61)|p.P152L(57)|p.P151H(25)|p.P152S(21)|p.P151T(13)|p.P151P(12)|p.P153fs*28(10)|p.P153S(8)|p.P151A(8)|p.P152T(7)|p.0?(7)|p.P153P(7)|p.P151fs*30(7)|p.P151L(6)|p.P152fs*18(6)|p.P151R(6)|p.P153L(6)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P152fs*14(4)|p.P152R(3)|p.P153T(3)|p.G154fs*27(3)|p.T150fs*16(3)|p.G154fs*16(2)|p.P152A(2)|p.P152fs*28(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.T150_P153delTPPP(1)|p.P152_P153del(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)|p.P153_G154insX(1)|p.P153F(1)|p.P153A(1)|p.T150_P151delTP(1)|p.P153H(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)		CGCGGGTGCCGGGCGGGGGTGTGGAATC	0.606		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)			23	30	---	---	---	---	NA	NA	NA	NA
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A	rs150885877	byFrequency	TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:185212517_185212518insA	uc003fpj.2	-	4	563_564	c.467_468insT	c.(466-468)TTCfs	p.F156fs	TMEM41A_uc003fpk.2_Intron|TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	transmembrane protein 41A precursor	156	Helical; (Potential).					integral to membrane					0	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.396		NA											7	671	---	---	---	---	NA	NA	NA	NA
ANKH	56172	broad.mit.edu	37	5	14716943	14716944	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:14716943_14716944insG	uc003jfm.3	-	9	1343_1344	c.1012_1013insC	c.(1012-1014)CTCfs	p.L338fs	ANKH_uc003jfl.3_Frame_Shift_Ins_p.L51fs	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	338	Helical; (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						CACGAAACAGAGCTGGGGAGAA	0.455		NA											17	23	---	---	---	---	NA	NA	NA	NA
DOPEY1	23033	broad.mit.edu	37	6	83866921	83866941	+	In_Frame_Del	DEL	CGTTTGCCACAGGTGCCAACT	CGTTTGCCACAGGTGCCAACT	-			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr6:83866921_83866941delCGTTTGCCACAGGTGCCAACT	uc003pjs.1	+	35	6885_6905	c.6625_6645delCGTTTGCCACAGGTGCCAACT	c.(6625-6645)CGTTTGCCACAGGTGCCAACTdel	p.RLPQVPT2209del	DOPEY1_uc011dyy.1_In_Frame_Del_p.RLPQVPT2200del|DOPEY1_uc010kbl.1_In_Frame_Del_p.RLPQVPT2200del|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2209_2215					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGAGAGTCTCCGTTTGCCACAGGTGCCAACTCTCCATTCTC	0.371		NA											9	70	---	---	---	---	NA	NA	NA	NA
