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
MST1P9	11223	broad.mit.edu	37	1	17087517	17087517	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:17087517G>A	uc010ock.2	-	1	148	c.148C>T	c.(148-150)Cct>Tct	p.P50S	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						TCCTGCCAAGGCCCGGGCACC	0.622												
HSPG2	3339	broad.mit.edu	37	1	22211272	22211272	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:22211272C>T	uc009vqd.3	-	11	1535	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I	HSPG2_uc001bfj.3_Missense_Mutation_p.V499I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	499	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGTTGTGGGACGAGCTCAAGG	0.667												
DAB1	1600	broad.mit.edu	37	1	57535043	57535043	+	Missense_Mutation	SNP	T	T	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:57535043T>A	uc009vzx.1	-	7	973	c.653A>T	c.(652-654)aAc>aTc	p.N218I	DAB1_uc001cyt.1_Missense_Mutation_p.N218I|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Missense_Mutation_p.N218I	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	218					cell differentiation|nervous system development			p.E217*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGATAAATGTTTTCTTCCGT	0.423												
GBP2	2634	broad.mit.edu	37	1	89575480	89575482	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:89575480_89575482delCTC	uc001dmz.1	-	9	1808_1810	c.1537_1539delGAG	c.(1537-1539)gagdel	p.E513del	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	513					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GTTCCATCATCTCCTCATTCTTC	0.404												
DCLRE1B	64858	broad.mit.edu	37	1	114448263	114448263	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:114448263C>T	uc001eeg.3	+	0	349	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_5'UTR|DCLRE1B_uc001eei.3_5'UTR	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	19					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAGCCTGCGCCGGGCTGG	0.642								Other identified genes with known or suspected DNA repair function				
CASQ2	845	broad.mit.edu	37	1	116247851	116247851	+	Missense_Mutation	SNP	G	G	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:116247851G>C	uc001efx.4	-	8	1165	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V	CASQ2_uc010owu.2_Missense_Mutation_p.L230V	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	301					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGATGCTCAGATCGGGGTTG	0.547												
PRSS38	339501	broad.mit.edu	37	1	228004940	228004940	+	Silent	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:228004940C>T	uc001hrh.3	+	2	342	c.342C>T	c.(340-342)taC>taT	p.Y114Y		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	114	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGACATGTACGTAGGCCTCG	0.562												
LYST	1130	broad.mit.edu	37	1	235866238	235866238	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:235866238C>T	uc001hxj.2	-	44	10358	c.10183G>A	c.(10183-10185)Gtt>Att	p.V3395I	LYST_uc001hxi.2_Missense_Mutation_p.V619I	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3395	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGTCTCTGAACTGGATCTTCA	0.448												
HEATR1	55127	broad.mit.edu	37	1	236749663	236749663	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:236749663C>A	uc001hyd.2	-	14	1957	c.1805G>T	c.(1804-1806)tGt>tTt	p.C602F		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	602					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGCAGCAAACATACAACCAC	0.358												
NMT2	9397	broad.mit.edu	37	10	15183429	15183429	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:15183429G>A	uc001inz.1	-	1	322	c.238C>T	c.(238-240)Cct>Tct	p.P80S	NMT2_uc001ioa.1_Silent_p.S52S|NMT2_uc010qbz.1_5'UTR	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	80					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ACTTTCGAAGGCTGCTGAATT	0.443												
MYOZ1	58529	broad.mit.edu	37	10	75399754	75399754	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:75399754C>T	uc001jur.3	-	1	387	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	8					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TTATTAGGGGCCGGGGTTCCT	0.542												
DLG5	9231	broad.mit.edu	37	10	79571808	79571808	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:79571808C>T	uc001jzk.3	-	21	4266	c.4196G>A	c.(4195-4197)gGc>gAc	p.G1399D	DLG5_uc001jzi.3_Missense_Mutation_p.G154D|DLG5_uc001jzj.3_Missense_Mutation_p.G814D|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1399	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGGTTTATGCCGTTGAACTG	0.642												
EBF3	253738	broad.mit.edu	37	10	131676050	131676050	+	Silent	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:131676050T>C	uc021qav.1	-	6	677	c.576A>G	c.(574-576)cgA>cgG	p.R192R	EBF3_uc001lki.2_Silent_p.R206R	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	206					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCCGCATATCTCGAGGGTTGC	0.368												
TEAD1	7003	broad.mit.edu	37	11	12902599	12902599	+	Splice_Site	SNP	G	G	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:12902599G>C	uc021qdx.1	+	7	1132	c.512_splice	c.e7+1	p.D171_splice	TEAD1_uc001mkk.4_Splice_Site_p.D75_splice|TEAD1_uc009ygl.3_Splice_Site_p.D50_splice	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	171	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTCACAAGAGTAAGTCTGAG	0.547												
OR4C15	81309	broad.mit.edu	37	11	55322827	55322827	+	Missense_Mutation	SNP	C	C	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:55322827C>G	uc010rig.2	+	0	1045	c.1045C>G	c.(1045-1047)Cag>Gag	p.Q349E		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGAAGTAAAACAGGCCATGAG	0.328										HNSCC(20;0.049)		
LRFN4	78999	broad.mit.edu	37	11	66626230	66626230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:66626230delG	uc001ojr.3	+	0	1355	c.1015delG	c.(1015-1017)gggfs	p.G339fs	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Frame_Shift_Del_p.G339fs	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	339	Ig-like.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						CTTAGAGATTGGGGTGACCGG	0.677												
KRT80	144501	broad.mit.edu	37	12	52565281	52565281	+	Silent	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:52565281C>T	uc001rzw.3	-	6	1416	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K	KRT80_uc001rzy.3_3'UTR|KRT80_uc001rzx.3_Silent_p.K420K	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	420						keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GGGAGGGGGCCTTGGAGAGGC	0.542												
LRIG3	121227	broad.mit.edu	37	12	59271381	59271381	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:59271381G>A	uc001sqr.3	-	14	2583	c.2337C>T	c.(2335-2337)aaC>aaT	p.N779N	LRIG3_uc009zqh.3_Silent_p.N719N|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	779	Ig-like C2-type 3.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGAGGCGCACGTTTCCTCTCT	0.532			T	ROS1	NSCLC							
ANKLE2	23141	broad.mit.edu	37	12	133327271	133327272	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:133327271_133327272delGA	uc001ukx.2	-	2	871_872	c.804_805delTC	c.(802-807)tctcctfs	p.S268fs	ANKLE2_uc001uky.3_Frame_Shift_Del_p.S206fs	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	268						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTTTTCACAGGAGACAGTGGTA	0.426												
C14orf21	161424	broad.mit.edu	37	14	24769334	24769334	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:24769334C>A	uc001wol.1	+	0	237	c.174C>A	c.(172-174)agC>agA	p.S58R	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	58							RNA binding	p.S58R(2)		breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		CGCACCTGAGCCCGGAAGCTC	0.662												
C14orf101	54916	broad.mit.edu	37	14	57075891	57075891	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:57075891A>G	uc001xcm.3	+	5	826	c.704A>G	c.(703-705)cAc>cGc	p.H235R	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.H235R|C14orf101_uc010aot.1_Missense_Mutation_p.H235R|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	235						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CCCTATGTCCACCTTCCCATC	0.488												
PAPOLA	10914	broad.mit.edu	37	14	96986512	96986512	+	Missense_Mutation	SNP	T	T	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:96986512T>G	uc001yfq.3	+	1	346	c.129T>G	c.(127-129)atT>atG	p.I43M	PAPOLA_uc001yfp.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfo.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfr.3_Missense_Mutation_p.I43M|PAPOLA_uc010twv.2_Missense_Mutation_p.I43M|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	43					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAAACTAATTGAGACATTGA	0.408												
WARS	7453	broad.mit.edu	37	14	100808747	100808747	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:100808747C>A	uc001yhh.1	-	8	1482	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	WARS_uc001yhi.1_Missense_Mutation_p.Q326H|WARS_uc001yhg.2_Missense_Mutation_p.Q367H|WARS_uc001yhl.1_Missense_Mutation_p.Q367H|WARS_uc001yhk.1_Missense_Mutation_p.Q326H	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	367					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.Q367H(2)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGGTTTTGATCTGCTTGGCCG	0.622												
SPTBN5	51332	broad.mit.edu	37	15	42185109	42185109	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:42185109C>T	uc001zos.3	-	2	595	c.262G>A	c.(262-264)Gcc>Acc	p.A88T		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	123	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGAGGAAGGCCAGAGCTCGG	0.687												
PDIA3	2923	broad.mit.edu	37	15	44055362	44055362	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:44055362C>T	uc001zsu.3	+	4	708	c.560C>T	c.(559-561)aCg>aTg	p.T187M	PDIA3_uc010bdp.3_Missense_Mutation_p.T167M|PDIA3_uc010ued.2_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	187					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TTTGCACATACGAATGTTGAG	0.408												
ADAMTSL3	57188	broad.mit.edu	37	15	84442304	84442304	+	Silent	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:84442304C>T	uc002bjz.4	+	3	443	c.219C>T	c.(217-219)gaC>gaT	p.D73D	ADAMTSL3_uc002bjy.1_Silent_p.D73D|ADAMTSL3_uc010bmt.1_Silent_p.D73D	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	73						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGATGAAGACAAAGATGGCA	0.438												
ZFHX3	463	broad.mit.edu	37	16	72831003	72831003	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr16:72831003T>C	uc002fck.3	-	8	6251	c.5578A>G	c.(5578-5580)Ata>Gta	p.I1860V	ZFHX3_uc002fcl.3_Missense_Mutation_p.I946V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1860					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGGGCTATAGAGAGTTGG	0.532												
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)		
TP53	7157	broad.mit.edu	37	17	7578460	7578460	+	Missense_Mutation	SNP	A	A	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578460A>C	uc002gim.2	-	4	664	c.470T>G	c.(469-471)gTc>gGc	p.V157G	TP53_uc002gig.1_Missense_Mutation_p.V157G|TP53_uc002gih.3_Missense_Mutation_p.V157G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V25G|TP53_uc010cnf.1_Missense_Mutation_p.V25G|TP53_uc002gii.1_Missense_Mutation_p.V25G|TP53_uc010cni.1_Missense_Mutation_p.V157G|TP53_uc010cnh.1_Missense_Mutation_p.V157G|TP53_uc002gij.2_Missense_Mutation_p.V157G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V64G|TP53_uc002gio.2_Missense_Mutation_p.V25G|TP53_uc010vug.2_Missense_Mutation_p.V118G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(151)|p.R156P(24)|p.V157D(16)|p.V157G(14)|p.R156fs*14(11)|p.V157I(10)|p.R156H(10)|p.0?(8)|p.V157L(6)|p.V157V(5)|p.R156_I162delRVRAMAI(4)|p.V157del(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156_V157del(2)|p.V157A(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.T155fs*23(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157fs*24(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R156fs*20(2)|p.R156C(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.T155_R156delTR(1)|p.R156_V157insV(1)|p.R156del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.G154_R156delGTR(1)|p.V157fs*23(1)|p.V157fs*25(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)		CATGGCGCGGACGCGGGTGCC	0.617		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)		
ZNF207	7756	broad.mit.edu	37	17	30696410	30696410	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:30696410A>G	uc010csz.3	+	11	1617	c.1270A>G	c.(1270-1272)Atg>Gtg	p.M424V	ZNF207_uc002hhj.4_Missense_Mutation_p.M421V|ZNF207_uc002hhh.4_Missense_Mutation_p.M405V|ZNF207_uc002hhi.4_Missense_Mutation_p.M390V|ZNF207_uc002hhk.1_Missense_Mutation_p.M421V|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AATTGGAGGTATGATGCCACC	0.488												
TAF15	8148	broad.mit.edu	37	17	34171636	34171636	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:34171636G>A	uc002hkd.3	+	14	1419	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	TAF15_uc002hkc.3_Missense_Mutation_p.G442S	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	445	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		aagtgggggcggctatggtgg	0.637			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""							
NR1D1	9572	broad.mit.edu	37	17	38253028	38253028	+	Silent	SNP	C	C	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:38253028C>G	uc002htz.2	-	2	1001	c.375G>C	c.(373-375)ctG>ctC	p.L125L	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_5'UTR	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	125					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CCATGCCATTCAGCTCTGTGG	0.622												
FBF1	85302	broad.mit.edu	37	17	73922854	73922854	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:73922854T>C	uc002jqc.3	-	8	812	c.538A>G	c.(538-540)Aca>Gca	p.T180A	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Missense_Mutation_p.T170A|FBF1_uc002jqd.1_Missense_Mutation_p.T180A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	180										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCTCTCACTGTGCTGGGGCTC	0.512												
OR10H2	26538	broad.mit.edu	37	19	15839024	15839024	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:15839024G>A	uc002nbm.2	+	0	191	c.171G>A	c.(169-171)acG>acA	p.T57T		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCCTCCACACGCCCATGTACC	0.612												
LRP3	4037	broad.mit.edu	37	19	33697915	33697915	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:33697915C>T	uc010edh.3	+	6	1840	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	LRP3_uc002nuk.4_Missense_Mutation_p.R457C	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	583					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGAATCTTCGCACAGCCAT	0.721												
FFAR2	2867	broad.mit.edu	37	19	35940825	35940825	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:35940825C>T	uc002nzg.2	+	1	289	c.209C>T	c.(208-210)gCg>gTg	p.A70V	FFAR2_uc010eea.3_Missense_Mutation_p.A70V	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	70						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATCGAGGCTGCGTCGAACTTC	0.637												
ZNF283	284349	broad.mit.edu	37	19	44351487	44351487	+	Nonsense_Mutation	SNP	T	T	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:44351487T>A	uc002oxr.4	+	6	1002	c.734T>A	c.(733-735)tTa>tAa	p.L245*	ZNF283_uc002oxp.4_Nonsense_Mutation_p.L106*	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAGAATTATTTAAGTGCCTAT	0.408												
SAE1	10055	broad.mit.edu	37	19	47700626	47700626	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:47700626C>A	uc002pgc.3	+	6	978	c.870C>A	c.(868-870)gaC>gaA	p.D290E	SAE1_uc002pgd.3_Intron|SAE1_uc010ekx.3_Intron|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Missense_Mutation_p.D116E|SAE1_uc002pge.3_Missense_Mutation_p.D226E	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN	Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.	290					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCTGAGGACTTTGTCAGGT	0.398												
FOSL2	2355	broad.mit.edu	37	2	28635026	28635026	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:28635026C>T	uc002rma.3	+	3	1501	c.692C>T	c.(691-693)cCc>cTc	p.P231L	FOSL2_uc021vfg.1_Missense_Mutation_p.P223L|FOSL2_uc010ymi.2_Missense_Mutation_p.P192L	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	231					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GAGGACAGCCCCTCGTCCTCG	0.692												
THADA	63892	broad.mit.edu	37	2	43520122	43520122	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:43520122G>A	uc002rsw.4	-	31	5021	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C	THADA_uc010far.3_Missense_Mutation_p.R752C|THADA_uc002rsx.4_Missense_Mutation_p.R1557C|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1557							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTTAGTGAGCGCACTTCAGGG	0.557												
FSHR	2492	broad.mit.edu	37	2	49190747	49190747	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:49190747C>T	uc002rww.3	-	9	1323	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	FSHR_uc010fbn.3_Missense_Mutation_p.A379T|FSHR_uc002rwx.3_Missense_Mutation_p.A343T	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	405					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCAGCAAAGGCCAGGTTGCAC	0.458									Gonadal Dysgenesis, 46 XX			
CTNNA2	1496	broad.mit.edu	37	2	80085194	80085194	+	Silent	SNP	A	A	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:80085194A>C	uc010ysh.2	+	2	359	c.354A>C	c.(352-354)gtA>gtC	p.V118V	CTNNA2_uc010yse.2_Silent_p.V118V|CTNNA2_uc010ysf.2_Silent_p.V118V|CTNNA2_uc010ysg.2_Silent_p.V118V	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	118					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTCGTCGGTAAAGCGCGGCA	0.582												
SLC9A2	6549	broad.mit.edu	37	2	103274233	103274233	+	Missense_Mutation	SNP	G	G	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:103274233G>C	uc002tca.3	+	1	642	c.500G>C	c.(499-501)gGc>gCc	p.G167A		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	167						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.I166I(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAGAACATTGGCACGATTTTC	0.493												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
GIGYF2	26058	broad.mit.edu	37	2	233613794	233613794	+	Splice_Site	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:233613794T>C	uc002vtj.4	+	6	534	c.267_splice	c.e6+2	p.Q89_splice	GIGYF2_uc010zmj.1_Splice_Site_p.Q89_splice|GIGYF2_uc002vtg.2_Splice_Site_p.Q89_splice|GIGYF2_uc002vti.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vtk.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vth.4_Splice_Site_p.Q89_splice|GIGYF2_uc010zmk.2_Splice_Site	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	89					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAGAACAGGTTTGTGATTAG	0.433												
PRIC285	85441	broad.mit.edu	37	20	62200951	62200951	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62200951C>T	uc002yfm.2	-	4	1530	c.638G>A	c.(637-639)gGc>gAc	p.G213D	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	213					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGGCGGGAGGCCGGGAGCCAC	0.697												
UCKL1	54963	broad.mit.edu	37	20	62577191	62577191	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62577191A>T	uc010gkn.3	-	3	624	c.549T>A	c.(547-549)taT>taA	p.Y183*	UCKL1_uc011abm.2_Nonsense_Mutation_p.Y168*|UCKL1_uc011abn.2_Non-coding_Transcript|UCKL1_uc011abo.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	183					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGTGAAGTCATAAATGGGCA	0.587												
PRPF6	24148	broad.mit.edu	37	20	62648082	62648082	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62648082G>A	uc002yho.3	+	11	1699	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	PRPF6_uc002yhp.3_Missense_Mutation_p.E511K	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	511					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TCAGGATGCCGAGGAATGTGA	0.512												
MKL1	57591	broad.mit.edu	37	22	40814732	40814737	+	In_Frame_Del	DEL	GGGGGC	GGGGGC	-	rs144888766	by1000genomes	TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr22:40814732_40814737delGGGGGC	uc003ayv.1	-	8	1912_1917	c.1705_1710delGCCCCC	c.(1705-1710)gcccccdel	p.AP569del	MKL1_uc010gyf.1_In_Frame_Del_p.AP519del|MKL1_uc003ayw.1_In_Frame_Del_p.AP569del|MKL1_uc010gye.1_In_Frame_Del_p.AP569del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	569	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGTGCCGAGgggggcgggggcgggg	0.723			T	RBM15	acute megakaryocytic leukemia							
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:53220653delG	uc003dgl.3	+	13	1647	c.1294delG	c.(1294-1296)gggfs	p.G432fs	PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	432	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602												
RAP2B	5912	broad.mit.edu	37	3	152880606	152880606	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:152880606A>G	uc003ezr.3	+	0	578	c.124A>G	c.(124-126)Aag>Gag	p.K42E		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	42					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTTACCGCAAGGAGATTGA	0.627												
MCCC1	56922	broad.mit.edu	37	3	182775185	182775185	+	Missense_Mutation	SNP	C	C	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:182775185C>G	uc003fle.3	-	7	924	c.787G>C	c.(787-789)Gat>Cat	p.D263H	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.D146H|MCCC1_uc003flg.3_Missense_Mutation_p.D154H|MCCC1_uc011bqp.1_Missense_Mutation_p.D216H|MCCC1_uc011bqq.1_Missense_Mutation_p.D154H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	263	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCATGGTGATCACCAAACACC	0.413												
ZNF718	152687	broad.mit.edu	37	4	59387	59387	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:59387C>A	uc003fzv.1	+	1	224	c.68C>A	c.(67-69)cCt>cAt	p.P23H	ZNF718_uc003fzt.4_Missense_Mutation_p.P23H|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	23	KRAB.			I -> T (in Ref. 1; AAI04028).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P23H(1)					all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTCTGGACCCTGCCCAGCAG	0.423												
MTHFD2L	441024	broad.mit.edu	37	4	75065528	75065528	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:75065528A>G	uc011cbk.2	+	3	496	c.469A>G	c.(469-471)Aca>Gca	p.T157A	MTHFD2L_uc011cbj.2_Missense_Mutation_p.T99A|MTHFD2L_uc003hhn.1_Missense_Mutation_p.T99A	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	99					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TGATGAGCGAACAATATGCAA	0.328												
CDKN2AIP	55602	broad.mit.edu	37	4	184367366	184367366	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:184367366A>G	uc003ivp.1	+	2	691	c.529A>G	c.(529-531)Acg>Gcg	p.T177A	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	177	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	p.T177T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACAGTTCAACGTGTATAGG	0.473												
TAF7	6879	broad.mit.edu	37	5	140698719	140698719	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:140698719C>A	uc003ljg.3	-	0	1633	c.893G>T	c.(892-894)aGg>aTg	p.R298M		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	298					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	p.D297H(2)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTTTTGCCCTGTCCTGGGT	0.453												
CCNG1	900	broad.mit.edu	37	5	162868235	162868235	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:162868235A>G	uc003lzb.3	+	2	650	c.416A>G	c.(415-417)aAg>aGg	p.K139R	CCNG1_uc011dek.1_Missense_Mutation_p.K3R|CCNG1_uc011del.2_Missense_Mutation_p.K3R|CCNG1_uc003lzc.3_Non-coding_Transcript	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.	139					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		AGAATGGAAAAGATTGTATTG	0.378												
OR2J3	442186	broad.mit.edu	37	6	29080438	29080438	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:29080438G>A	uc011dll.2	+	0	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTTCATTCCGGCCATGTGCA	0.458												
DNAH8	1769	broad.mit.edu	37	6	38783392	38783392	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:38783392T>C	uc021yzh.1	+	25	3591	c.3482T>C	c.(3481-3483)gTg>gCg	p.V1161A	DNAH8_uc003ooe.2_Missense_Mutation_p.V944A	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTACTGACGTGACCCATCAA	0.448												
CD2AP	23607	broad.mit.edu	37	6	47512403	47512403	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:47512403G>A	uc003oyw.3	+	3	837	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	127	Interaction with ANLN and localization to the midbody.|SH3 2.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGATGAACTGGAGCTGAAAG	0.313												
MB21D1	115004	broad.mit.edu	37	6	74149963	74149963	+	Silent	SNP	G	G	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:74149963G>T	uc003pgx.1	-	2	1222	c.1083C>A	c.(1081-1083)ccC>ccA	p.P361P		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.	361										central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTGCATGCTTGGGTACAAGGT	0.383												
LPA	4018	broad.mit.edu	37	6	160977190	160977190	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:160977190G>A	uc003qtl.3	-	30	4960	c.4840C>T	c.(4840-4842)Cgg>Tgg	p.R1614W		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4122	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.R1614Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGCACTGCCGGACCACAGGG	0.463												
ZNF12	7559	broad.mit.edu	37	7	6737438	6737438	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:6737438G>A	uc003sqt.1	-	2	574	c.20C>T	c.(19-21)cCa>cTa	p.P7L	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.P7L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	7					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGACACTGGCCCCTGAAA	0.493												
POM121C	100101267	broad.mit.edu	37	7	75070792	75070792	+	Missense_Mutation	SNP	A	A	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:75070792A>T	uc003udk.4	-	3					POM121C_uc003udl.1_Non-coding_Transcript|POM121C_uc010lde.1_Missense_Mutation_p.S237T	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.						mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTGCGAGGGGACAGCACAGCC	0.527												
TRRAP	8295	broad.mit.edu	37	7	98588209	98588209	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:98588209G>A	uc003upp.3	+	62	9944	c.9735G>A	c.(9733-9735)tcG>tcA	p.S3245S	TRRAP_uc011kis.2_Silent_p.S3216S|TRRAP_uc003upr.3_Silent_p.S2933S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3245	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTTGGCTCGGAGGGAAAGC	0.527												
PRSS3P2	154754	broad.mit.edu	37	7	142481807	142481807	+	Silent	SNP	C	C	T	rs4726591	by1000genomes	TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:142481807C>T	uc011ksq.2	+	3	569	c.486C>T	c.(484-486)gaC>gaT	p.D162D	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		AGTGCCTGGACGCTCCTGTGC	0.502												
RP1	6101	broad.mit.edu	37	8	55537403	55537403	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:55537403A>G	uc003xsd.1	+	3	1109	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	321					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGATATTGAGAAATCAATTAT	0.323												
ARHGAP39	80728	broad.mit.edu	37	8	145758601	145758601	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:145758601G>A	uc003zds.1	-	9	3352	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	ARHGAP39_uc011llk.1_Missense_Mutation_p.R902C|ARHGAP39_uc003zdt.1_Missense_Mutation_p.R902C	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	902	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCGGGGTAGCGCTCTCTCTGC	0.647												
AAED1	195827	broad.mit.edu	37	9	99413984	99413984	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr9:99413984A>G	uc004awm.3	-	2	308	c.272T>C	c.(271-273)gTc>gCc	p.V91A		NM_153698	NP_714542	Q7RTV5	CI021_HUMAN	Homo sapiens chromosome 9 open reading frame 21 (C9orf21), mRNA.	91							antioxidant activity|oxidoreductase activity										TATAAGGGTGACATTTGCTTC	0.313												
OBP2A	29991	broad.mit.edu	37	9	138438640	138438640	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr9:138438640A>G	uc004cgc.3	+	1	131	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	OBP2A_uc004cgb.3_Missense_Mutation_p.Y30C|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Intron			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	30					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.Y30Y(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGGACCTGGTACGTGAAGGCC	0.607												
KIAA2022	340533	broad.mit.edu	37	X	73959989	73959989	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:73959989T>C	uc004eby.3	-	2	5020	c.4403A>G	c.(4402-4404)gAg>gGg	p.E1468G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1468					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.E1468G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGTTCTCGCTCCATGTGCTT	0.473												
ATRX	546	broad.mit.edu	37	X	76937111	76937111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:76937111delG	uc004ecp.4	-	8	3869	c.3637delC	c.(3637-3639)cagfs	p.Q1213fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Q1175fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q998fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Q1145fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Q1184fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Q1158fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1213					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAGAATTCTGATCATCATCT	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
DIAPH2	1730	broad.mit.edu	37	X	96638984	96638984	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:96638984C>T	uc004efu.4	+	24	3482	c.3086C>T	c.(3085-3087)gCt>gTt	p.A1029V	DIAPH2_uc004eft.4_Missense_Mutation_p.A1029V	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	1029					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAAGAGAAAGCTGAACAAGAA	0.313												
VAMP7	6845	broad.mit.edu	37	X	155149532	155149532	+	Missense_Mutation	SNP	T	T	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:155149532T>G	uc004fnr.3	+	5	667	c.489T>G	c.(487-489)aaT>aaG	p.N163K	VAMP7_uc011naa.2_Missense_Mutation_p.N124K|VAMP7_uc011nab.2_Missense_Mutation_p.N62K|VAMP7_uc004fnt.3_Missense_Mutation_p.N122K|VAMP7_uc004fns.3_Intron|VAMP7_uc011nac.2_Missense_Mutation_p.N96K	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	163	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAACAGAAAATCTTGTGGATT	0.338