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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
VPS29	51699	broad.mit.edu	37	12	110933972	110933972	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:110933972G>A	uc001tqy.3	-	1	100	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Missense_Mutation_p.R18W|VPS29_uc001tqz.3_Non-coding_Transcript	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA.	14					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTGTTGCACCGGTGTGGGATG	0.398000														97			30		0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16735618	16735618	+	Missense_Mutation	SNP	G	A	A	rs645134	by1000genomes	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:16735618G>A	uc010vwr.1	-	0	530	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		TACCAGTCACGGATCTTCACT	0.582000														240			14		0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49510730	49510730	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:49510730T>A	uc002xvt.1	-	4	866	c.521A>T	c.(520-522)gAt>gTt	p.D174V	ADNP_uc002xvu.1_Missense_Mutation_p.D174V	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATAAAGAGGATCTCGGTAAGT	0.398000														222			79		0	0	1	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000														29			4		0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	G	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:48575671C>G	uc010xdp.2	+	3	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_uc010xdo.1_Non-coding_Transcript	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	144					BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(10)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294000														12			6		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73438996	73438996	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:73438996G>A	uc003dpl.1	-	6	1483	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PDZRN3_uc011bgh.1_Missense_Mutation_p.R120C|PDZRN3_uc010hoe.1_Missense_Mutation_p.R161C|PDZRN3_uc011bgf.1_Missense_Mutation_p.R180C|PDZRN3_uc011bgg.1_Missense_Mutation_p.R183C	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	463	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTCGGATGCGCCCATCCTTG	0.468000														109			37		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844650	123844650	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:123844650G>A	uc001lfv.3	+	3	2995	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.V879M|TACC2_uc010qtv.2_Missense_Mutation_p.V879M	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	879						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCATGTACCTGTGGAACCTCA	0.517000														85			32		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96651510	96651510	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:96651510T>C	uc001vmt.3	-	5	882	c.712A>G	c.(712-714)Att>Gtt	p.I238V	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.I238V	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	238					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTACTCTTAATTGCTAGCTCC	0.348000														102			36		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72208758	72208758	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:72208758G>C	uc002atl.4	-	18	3111	c.2638C>G	c.(2638-2640)Cat>Gat	p.H880D	MYO9A_uc010biq.3_Missense_Mutation_p.H500D|MYO9A_uc002atn.1_Missense_Mutation_p.H861D	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	880					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTGTAAATGAAGAAGAGAC	0.353000														50			28		0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1842049	1842049	+	Silent	SNP	G	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:1842049G>A	uc010uvn.2	-	1	565	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	IGFALS_uc002cmy.3_Silent_p.L124L|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	124					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGTGGCACAGGTTCTCTAGG	0.692000														24			13		0	0	1	0	0
SPARC	6678	broad.mit.edu	37	5	151045924	151045924	+	Silent	SNP	G	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:151045924G>A	uc003lui.3	-	7	837	c.732C>T	c.(730-732)gaC>gaT	p.D244D	SPARC_uc003lug.3_Silent_p.D78D	NM_003118	NP_003109	P09486	SPRC_HUMAN	Homo sapiens secreted protein, acidic, cysteine-rich (osteonectin) (SPARC), mRNA.	244					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.D244D(2)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GGTCTTACCCGTCAATGGGGT	0.572000														101			29		0	0	1	0	0
CR936796	0	broad.mit.edu	37	1	143233116	143233116	+	RNA	SNP	C	T	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:143233116C>T	uc001eiw.1	+	4		c.612C>T								Homo sapiens PNAS-130 mRNA, complete cds.																		TCAGAAATTCCAACATCTATT	0.264000														19			10		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682152	47682152	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:47682152A>T	uc003oyz.1	+	6	1342	c.1342A>T	c.(1342-1344)Atg>Ttg	p.M448L	GPR115_uc003oza.1_Missense_Mutation_p.M391L|GPR115_uc003ozb.1_Missense_Mutation_p.M391L|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	391					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A447S(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTCCATTCTCATGTCCTCCAA	0.463000														63			27		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188477	140188477	+	Missense_Mutation	SNP	C	T	T	rs13189658		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140188477C>T	uc003lhi.2	+	0	1806	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R569W|PCDHAC2_uc011daa.2_Missense_Mutation_p.R569W	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	583	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGCGCCTCGGGCGGGTGG	0.687000														183			97		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187952	57187952	+	Silent	SNP	A	G	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:57187952A>G	uc010kzo.3	-	4	1441	c.1170T>C	c.(1168-1170)ttT>ttC	p.F390F		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGGAGCGCCTAAAGTCTTGGC	0.443000														64			4		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	A	A	rs11540654		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:7579358C>A	uc002gim.2	-	3	523	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.3_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(62)|p.R110P(18)|p.R110fs*13(9)|p.0?(8)|p.R110C(5)|p.R110H(4)|p.F109_R110delFR(4)|p.G59fs*23(3)|p.R110fs*39(2)|p.G108_F109delGF(2)|p.F109C(2)|p.Y103_G112>C(2)|p.F109S(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.S33fs*23(1)|p.R110S(1)|p.F109fs*16(1)|p.F109F(1)|p.P13fs*18(1)|p.F109V(1)|p.F109_R110insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GAAGCCCAGACGGAAACCGTA	0.612000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)				74			55		2.47907e-22	2.59902e-22	1	1	0
CENPJ	55835	broad.mit.edu	37	13	25480645	25480645	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:25480645C>A	uc001upt.4	-	6	1784	c.1531G>T	c.(1531-1533)Gat>Tat	p.D511Y	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	511					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAGCCAGTATCGCAAGGTTTT	0.458000														131			61		3.76628e-20	3.88585e-20	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140788898	140788898	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140788898G>A	uc003lkj.2	+	0	1129	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.G377R	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	380	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D376H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGATTTCGGAGGAAATGG	0.413000														65			20		0	0	1	0	0
LOC642846	642846	broad.mit.edu	37	12	9463773	9463773	+	RNA	SNP	G	A	A	rs111854872	by1000genomes	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:9463773G>A	uc001qvp.2	+	11		c.999G>A			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		TAACCTGTGCGGTGTGGTTTC	0.627000														96			6		0	0	1	0	0
PRPS1	5631	broad.mit.edu	37	X	106890883	106890883	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:106890883G>A	uc004ene.4	+	5	957	c.752G>A	c.(751-753)gGa>gAa	p.G251E	PRPS1_uc011msj.2_Missense_Mutation_p.G47E|PRPS1_uc010npg.3_Missense_Mutation_p.G218E	NM_002764	NP_002755	P60891	PRPS1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA.	251					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TTGACTCATGGAATCTTCTCC	0.443000														244			15		0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40802489	40802489	+	Silent	SNP	G	A	A	rs143556388		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:40802489G>A	uc003ayu.1	+	9	1217	c.1008G>A	c.(1006-1008)acG>acA	p.T336T	SGSM3_uc010gyc.1_3'UTR|SGSM3_uc011aos.1_Silent_p.T269T|SGSM3_uc011aot.1_Silent_p.T273T	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	336					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCTTCAACACGCTATCGGATA	0.627000														54			4		0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414259	68414259	+	RNA	SNP	C	T	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:68414259C>T	uc004aex.3	+	0		c.814C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ccacagtggcctcaaagaact	0.483000														9			4		0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91969111	91969111	+	RNA	SNP	T	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:91969111T>C	uc010fho.1	+	1		c.1442T>C								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		CGCTGGCCATTGAGGGTGCCC	0.607000														31			4		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20854386	20854386	+	Silent	SNP	T	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:20854386T>C	uc010sii.2	+	3	619	c.264T>C	c.(262-264)ttT>ttC	p.F88F	SLCO1C1_uc010sij.2_Silent_p.F88F|SLCO1C1_uc009zip.3_Intron|SLCO1C1_uc001rei.3_Silent_p.F88F|SLCO1C1_uc010sik.2_Intron	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	88					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATGGTAGTTTTGAAATTGGTA	0.418000														99			49		0	0	1	0	0
TRIM73	378108	broad.mit.edu	37	7	75028266	75028266	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:75028266C>T	uc010ldc.3	+	1	249	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	TRIM73_uc003udc.1_Missense_Mutation_p.P17S|TRIM73_uc010ldd.2_Missense_Mutation_p.P17S	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN	Homo sapiens tripartite motif containing 73 (TRIM73), mRNA.	17						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCTTCAGTGTCCCATCTGCCT	0.602000														193			49		0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1574406	1574406	+	RNA	SNP	T	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:1574406T>C	uc011cmd.1	-	2		c.440A>G			SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CTCATCAATCTGCACCTGAGG	0.478000														27			3		0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61156680	61156680	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:61156680T>C	uc002liz.4	+	3	549	c.407T>C	c.(406-408)aTt>aCt	p.I136T	SERPINB5_uc002liy.2_Missense_Mutation_p.I136T	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	136					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AACAACTCAATTAAGGATCTC	0.388000														34			36		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13445253	13445253	+	Silent	SNP	C	T	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:13445253C>T	uc002mwy.3	-	7	1373	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	CACNA1A_uc010xnd.2_Silent_p.L379L|CACNA1A_uc021ups.1_Silent_p.L379L|CACNA1A_uc010xne.2_Silent_p.L379L|CACNA1A_uc010dze.2_Silent_p.L379L|CACNA1A_uc021upt.1_Silent_p.L379L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	379					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGCCGCCTCAGCTTCAGAA	0.517000														102			51		0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:46327243C>T	uc010haa.2	-	2	444	c.317G>A	c.(316-318)cGt>cAt	p.R106H	WNT7B_uc003bgo.2_Missense_Mutation_p.R102H	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	102					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701000														27			28		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40673	40673	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrGL000218.1:40673A>G	uc011mfn.2	-	2	346	c.257T>C	c.(256-258)gTg>gCg	p.V86A	LOC100233156_uc003jah.2_Missense_Mutation_p.V86A					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CTTGTGCCGCACGTCCTCCAG	0.667000														31			5		0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A	rs121913529		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				31			9		2.80697e-09	2.80697e-09	1	1	0
WTAP	9589	broad.mit.edu	37	6	160174521	160174521	+	Missense_Mutation	SNP	G	A	A	rs112093927		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:160174521G>A	uc003qsl.3	+	6	704	c.482G>A	c.(481-483)tGt>tAt	p.C161Y	WTAP_uc003qso.3_Missense_Mutation_p.C42Y	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.	161					RNA splicing|cell cycle|mRNA processing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ATGGCGAAGTGTCGAATGCTT	0.423000														48			40		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063285	41063285	+	Silent	SNP	T	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:41063285T>C	uc002ony.3	+	25	5732	c.5646T>C	c.(5644-5646)caT>caC	p.H1882H	SPTBN4_uc002onx.3_Silent_p.H1882H|SPTBN4_uc002onz.3_Silent_p.H1882H|SPTBN4_uc010egx.3_Silent_p.H625H|SPTBN4_uc002ooa.3_Silent_p.H558H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1882					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTTGAGCATGACCTGCAGC	0.667000														118			67		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113653	94113653	+	Missense_Mutation	SNP	C	T	T	rs147742063	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:94113653C>T	uc001pet.2	-	3	1106	c.934G>A	c.(934-936)Gtc>Atc	p.V312I		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	312						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V312I(2)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGAGGAGGACGTAGCAGTTG	0.527000														164			7		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854948	53854948	+	Silent	SNP	A	C	C	rs73935563	by1000genomes	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:53854948A>C	uc010ydv.1	+	3	1137	c.1020A>C	c.(1018-1020)tcA>tcC	p.S340S	ZNF845_uc010ydw.1_Silent_p.S340S	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTCAAACGTCATACCTTGTGT	0.378000														119			7		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48680455	48680455	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:48680455G>A	uc003cuf.1	-	30	8645	c.8645C>T	c.(8644-8646)cCa>cTa	p.P2882L	CELSR3_uc010hkf.3_Missense_Mutation_p.P74L|CELSR3_uc010hkg.3_Missense_Mutation_p.P767L|CELSR3_uc003cul.3_Missense_Mutation_p.P2784L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2784					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGACAGGCTGGCATCCAGGC	0.637000														117			57		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089482	86089482	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:86089482C>A	uc021rxf.1	+	0	1624	c.1624C>A	c.(1624-1626)Ctg>Atg	p.L542M	FLRT2_uc001xvr.3_Missense_Mutation_p.L542M|FLRT2_uc010atd.3_Missense_Mutation_p.L542M	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	542					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCCCCCTTTCTGCTGGCGGG	0.587000														222			89		4.85238e-36	5.17057e-36	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158490618	158490618	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:158490618C>G	uc003qqx.2	+	13	1959	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	SYNJ2_uc003qqw.2_Missense_Mutation_p.S618C|SYNJ2_uc003qqy.2_Missense_Mutation_p.S381C|SYNJ2_uc003qqz.2_Missense_Mutation_p.S235C|SYNJ2_uc003qra.2_5'Flank	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	618							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.R617C(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTCACGCTCTCATAGATAC	0.453000														38			27		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132307162	132307162	+	Silent	SNP	G	A	A	rs143650226		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:132307162G>A	uc010sck.2	-	3	668	c.618C>T	c.(616-618)aaC>aaT	p.N206N	OPCML_uc001qgu.3_Silent_p.N199N|OPCML_uc001qgs.3_Silent_p.N206N|OPCML_uc001qgt.3_Silent_p.N205N|OPCML_uc010scl.2_Silent_p.N165N	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	206	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.L205V(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCGACATCGTTCAACGCGC	0.552000														105			53		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	A	A	rs143826416	by1000genomes	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:43625382G>A	uc011lrb.2	-	3	3334	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1102						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						CTTGTGAATAGGGGGAAACAT	0.483000														143			10		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:31237922G>C	uc001rjt.1	+	4	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding	p.R167T(18)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)				31			4		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17087254	17087254	+	Silent	SNP	G	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:17087254G>A	uc010ock.2	-	2	330	c.330C>T	c.(328-330)ggC>ggT	p.G110G	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCCCCACTCGCCTTTCTCCT	0.582000														158			41		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49166233	49166233	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:49166233C>T	uc003cwe.3	-	13	2050	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	LAMB2_uc003cwf.1_Missense_Mutation_p.R584H	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	584	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R584H(2)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTCACCAGGCGCTCCACCAC	0.617000														122			50		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:22838561_22838563delAAG	uc001bft.2	+	11	2906_2908	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_uc001bfu.2_In_Frame_Del_p.K803del|ZBTB40_uc009vqi.1_In_Frame_Del_p.K691del|ZBTB40_uc001bfv.1_In_Frame_Del_p.K432del	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													---	186	---	---	10	---					
CDC7	8317	broad.mit.edu	37	1	91967356	91967357	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:91967356_91967357insA	uc001doe.3	+	1	248_249	c.83_84insA	c.(82-84)ttafs	p.L28fs	CDC7_uc001dof.3_Frame_Shift_Ins_p.L28fs|CDC7_uc010osw.2_Frame_Shift_Ins_p.L28fs|CDC7_uc009wdc.3_Frame_Shift_Ins_p.L28fs	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	28					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAACG	0.406													---	229	---	---	7	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	27	---	---	11	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:10917819_10917820delAG	uc002ras.3	+	10	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													---	220	---	---	7	---					
RG9MTD1	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:101284009delA	uc003duz.3	+	1	532	c.384delA	c.(382-384)gcafs	p.A128fs	RG9MTD1_uc021xbw.1_Frame_Shift_Del_p.A128fs	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	128					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						CTAACACAGCaaaaaaaaaat	0.343													---	61	---	---	7	---					
FAM8A1	51439	broad.mit.edu	37	6	17605243	17605248	+	In_Frame_Del	DEL	TTAGTT	-	-	rs143076391	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:17605243_17605248delTTAGTT	uc003ncc.3	+	2	1063_1068	c.940_945delTTAGTT	c.(940-945)ttagttdel	p.LV314del		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	314	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATACAGATTATTAGTTTGTTTCTATG	0.301													---	92	---	---	21	---					
C14orf43	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:74205926_74205928delCTG	uc010tud.1	-	0	1031_1033	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	C14orf43_uc001xot.3_In_Frame_Del_p.Q262del|C14orf43_uc001xou.3_In_Frame_Del_p.Q262del|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GTAGGgctgcctgctgctgctgc	0.650													---	95	---	---	10	---					
IGF1R	3480	broad.mit.edu	37	15	99192755	99192762	+	Splice_Site	DEL	TTTTTTTT	-	-	rs72419751		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:99192755_99192762delTTTTTTTT	uc002bul.3	+	1	1	c.-49_splice	c.e1-1		IGF1R_uc010urq.2_Splice_Site|IGF1R_uc010bon.3_Splice_Site	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.						anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ttttcttttctttttttttttttttttt	0.428													---	33	---	---	7	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:19580800_19580802delTCC	uc002dgn.2	+	2	487_489	c.172_174delTCC	c.(172-174)tccdel	p.S64del	C16orf62_uc002dgo.2_In_Frame_Del_p.S153del|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_In_Frame_Del_p.S153del	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	64	Ser-rich.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562													---	122	---	---	7	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:30736370_30736371insC	uc002dze.1	+	24	6010_6011	c.5625_5626insC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													---	325	---	---	9	---					
OR7C1	26664	broad.mit.edu	37	19	14910638	14910638	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:14910638delA	uc010xnz.2	-	0	311	c.311delT	c.(310-312)ttcfs	p.F104fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	104					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAATGAAGTGAAAAAAAAAAT	0.443													---	148	---	---	7	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:21627678_21627680delGAG	uc004czx.2	+	19	3115_3117	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_uc004czw.3_In_Frame_Del_p.E886del|CNKSR2_uc011mjn.2_In_Frame_Del_p.E837del|CNKSR2_uc011mjo.2_In_Frame_Del_p.E856del|CNKSR2_uc004czy.3_In_Frame_Del_p.E478del	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	886	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													---	111	---	---	8	---					
