Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TRIM58	25893	broad.mit.edu	37	1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:248028031C>T	ENST00000366481.3	+	3	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592000													15	33					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													5	64					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123687319	123687319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:123687319G>A	ENST00000334268.4	-	20	1599	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	TRDN_ENST00000398178.3_Nonsense_Mutation_p.R428*			Q13061	TRDN_HUMAN	triadin	428					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.R428*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCTTTGGCTCGTTCAGTTTCT	0.303000													5	22					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244773582	244773582	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:244773582T>C	ENST00000366534.4	+	19	2498	c.2444T>C	c.(2443-2445)aTt>aCt	p.I815T	C1orf101_ENST00000366533.4_Missense_Mutation_p.I815T|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.I664T	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	815						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAGTCAATGATTGAACTTAAC	0.388000													35	47					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5769212	5769212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:5769212C>A	ENST00000414202.2	+	22	3571	c.3380C>A	c.(3379-3381)gCc>gAc	p.A1127D	KIAA1432_ENST00000251879.6_Missense_Mutation_p.A1127D|KIAA1432_ENST00000381532.2_Missense_Mutation_p.A1048D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.A1048D|KIAA1432_ENST00000449720.2_Missense_Mutation_p.A1011D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1127						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATCATCCCAGCCTCTTCTATC	0.438000													29	184					4.74835e-14	5.07745e-14	1	1	0
CNTN4	152330	broad.mit.edu	37	3	3078931	3078931	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078931G>C	ENST00000397461.1	+	17	2395	c.2011G>C	c.(2011-2013)Gaa>Caa	p.E671Q	CNTN4_ENST00000427331.1_Missense_Mutation_p.E671Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.E671Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.E343Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.E343Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E452Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	671	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E343Q(1)|p.E671Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTTGAATATGAATTCCGCAC	0.522000													9	286					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99811425	99811425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:99811425T>C	ENST00000426455.1	+	33	4072	c.3665T>C	c.(3664-3666)aTt>aCt	p.I1222T	STAG3_ENST00000317296.5_Missense_Mutation_p.I1222T|STAG3_ENST00000394018.2_Missense_Mutation_p.I1164T|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1222					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCTGGATATTGAGGTGAGT	0.517000													44	149					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43999703	43999703	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:43999703C>T	ENST00000292140.5	-	7	1255	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	299										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGCTCTCGGCTGCCATCTGC	0.642000													10	12					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48342788	48342788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48342788C>T	ENST00000221996.7	+	4	670	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CRX_ENST00000539067.1_Missense_Mutation_p.T155M|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	155					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCCCCAACCACGGCAGTGGCC	0.667000													8	106					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135522782	135522782	+	Silent	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:135522782A>G	ENST00000341911.5	+	14	2155	c.1956A>G	c.(1954-1956)gaA>gaG	p.E652E	MYB_ENST00000528774.1_Silent_p.E649E|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_Silent_p.E446E|MYB_ENST00000534044.1_Intron|MYB_ENST00000442647.2_Silent_p.E528E|MYB_ENST00000527615.1_Silent_p.E531E|MYB_ENST00000534121.1_Silent_p.E636E|MYB_ENST00000533624.1_Silent_p.E496E|MYB_ENST00000316528.8_Silent_p.E531E|MYB_ENST00000367814.4_Silent_p.E531E	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTTAGGTGGAATCTCCAACTG	0.438000			T	NFIB	adenoid cystic carcinoma								3	38					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48786433	48786433	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr15:48786433C>T	ENST00000316623.5	-	23	3151	c.2696G>A	c.(2695-2697)gGg>gAg	p.G899E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	899	TB 4.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTGAGTACCCTTTACCACA	0.323000													20	62					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896041	153896041	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:153896041C>T	ENST00000511601.1	+	12	1786	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P533L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	533					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCTACCGGCCCCCGAACACC	0.667000													9	16					0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7092611	7092611	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:7092611T>C	ENST00000261407.4	-	2	326	c.241A>G	c.(241-243)Att>Gtt	p.I81V		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	81					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAATAAGCAATTGAGAGGCCT	0.418000													103	146					0	0	1	0	0
EIF1AX	1964	broad.mit.edu	37	X	20156719	20156719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:20156719C>T	ENST00000379607.5	-	2	241	c.38G>A	c.(37-39)cGc>cAc	p.R13H	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	13						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTTACCCCTGCGTCTGTTTTT	0.303000													3	65					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622136	234622136	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:234622136A>T	ENST00000608381.1	+	1	499	c.499A>T	c.(499-501)Att>Ttt	p.I167F	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Missense_Mutation_p.I167F|UGT1A6_ENST00000373424.1_Intron	NM_019078.1	NP_061951.1	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTACCTGTCGATTCCTGCTGT	0.478000													8	226					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943051	12943051	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12943051C>T	ENST00000235349.5	-	2	235	c.165G>A	c.(163-165)aaG>aaA	p.K55K		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	55										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCATCAGCTTCAGGGCCT	0.602000													5	139					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66328794	66328794	+	RNA	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:66328794G>C	ENST00000502692.1	+	0	2202				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGCGGCCCAGGCCAATGCCAT	0.652000													9	17					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893743	16893743	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:16893743A>G	ENST00000430580.2	-	25	3657	c.2770T>C	c.(2770-2772)Tgc>Cgc	p.C924R	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	924	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TAGGGCTGGCATGAGTCAGTC	0.478000													64	1066					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113677375	113677375	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:113677375C>T	ENST00000330212.3	+	5	1505	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ZDHHC23_ENST00000498275.1_Silent_p.I396I|ZDHHC23_ENST00000488129.1_3'UTR	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	402						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GCGGGCTCATCGTGGACACAG	0.602000													17	34					0	0	1	0	0
TLDC1	57707	broad.mit.edu	37	16	84516258	84516258	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr16:84516258C>T	ENST00000343629.6	-	6	1199	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	TLDC1_ENST00000535580.1_Silent_p.T312T	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		CGTTGTAGCCCGTGTGTGTGT	0.552000													26	49					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56700218	56700218	+	Missense_Mutation	SNP	C	C	T	rs140312980		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:56700218C>T	ENST00000389934.3	-	4	524	c.407G>A	c.(406-408)cGt>cAt	p.R136H	TEX14_ENST00000349033.5_Missense_Mutation_p.R136H|TEX14_ENST00000240361.8_Missense_Mutation_p.R136H	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	136						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGGTGCTACGCTCCTTTCC	0.567000													6	132					0	0	1	0	0
EPT1	85465	broad.mit.edu	37	2	26587719	26587719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:26587719C>T	ENST00000260585.7	+	3	265	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	49					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										ACTTGGCTGGCGCCCAATCTG	0.348000													4	71					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841995	8841995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:8841995C>A	ENST00000324060.2	+	1	680	c.605C>A	c.(604-606)tCa>tAa	p.S202*		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTCCACCTCAGGGGTGCTG	0.577000											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	20	153					5.49717e-05	5.7086e-05	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140772650	140772650	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:140772650A>G	ENST00000371372.1	+	1	410	c.265A>G	c.(265-267)Aag>Gag	p.K89E	RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000277551.2_Missense_Mutation_p.K89E|CACNA1B_ENST00000371355.4_Missense_Mutation_p.K89E|CACNA1B_ENST00000371357.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	89					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAAATACGCGAAGCGCATCAC	0.701000													4	38					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55590210	55590210	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:55590210C>A	ENST00000294383.6	-	35	4051	c.4052G>T	c.(4051-4053)aGt>aTt	p.S1351I	USP24_ENST00000407756.1_Missense_Mutation_p.S1191I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1351					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGGCTGGCTACTCCCAACAAG	0.433000													3	37					1	1	1	1	0
CXorf58	254158	broad.mit.edu	37	X	23956785	23956785	+	Silent	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:23956785T>C	ENST00000379211.3	+	8	1456	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	303										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAAAGTTTATTTGGCTAAAGA	0.338000													56	16					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30558337	30558337	+	Silent	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:30558337C>G	ENST00000326195.8	+	25	2509	c.2397C>G	c.(2395-2397)gcC>gcG	p.A799A	ABCF1_ENST00000376545.3_Silent_p.A761A|ABCF1_ENST00000396515.4_Silent_p.A192A	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	799	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GCCATGATGCCCGACTCATCA	0.488000													14	492					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124117596	124117596	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124117596G>T	ENST00000287380.1	+	8	1191	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	TBC1D31_ENST00000378080.2_Missense_Mutation_p.K262N|TBC1D31_ENST00000518805.1_5'UTR|TBC1D31_ENST00000521676.1_Missense_Mutation_p.K262N|TBC1D31_ENST00000309336.3_Missense_Mutation_p.K367N|TBC1D31_ENST00000327098.5_Missense_Mutation_p.K367N|TBC1D31_ENST00000522420.1_Missense_Mutation_p.K262N	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GTGATCTTAAGATGAAAGTAA	0.343000													10	28					4.68919e-08	4.96502e-08	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313000													3	39					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580857	580857	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:580857A>C	ENST00000327228.3	+	1	491	c.449A>C	c.(448-450)gAt>gCt	p.D150A		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	150	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GACGAAGCTGATCGGGATGGG	0.542000													17	81					0	0	1	0	0
DNAJC7	7266	broad.mit.edu	37	17	40133943	40133943	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:40133943G>A	ENST00000457167.4	-	12	1550	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	DNAJC7_ENST00000316603.7_Silent_p.L382L|DNAJC7_ENST00000426588.3_Silent_p.L382L	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	438	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGGGATCAGAGAGGATAGTAA	0.502000													31	94					0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34414311	34414311	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:34414311C>T	ENST00000591619.1	+	2	861	c.75C>T	c.(73-75)taC>taT	p.Y25Y	KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000592521.1_Silent_p.Y29Y|KIAA1328_ENST00000280020.5_Silent_p.Y29Y			Q86T90	K1328_HUMAN	KIAA1328	29										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CAGTAGTATACGTTCCAGGTA	0.338000													9	8					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12071583	12071583	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12071583C>T	ENST00000235329.5	+	19	2557	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	MFN2_ENST00000444836.1_Silent_p.L745L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	745					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ACAGTGAGCTCAACATGTTCA	0.537000													46	75					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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	0.393000			Mis		gliobastoma								31	61					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50764812	50764812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:50764812G>T	ENST00000440075.2	+	21	2552	c.2505G>T	c.(2503-2505)caG>caT	p.Q835H	MYH14_ENST00000596571.1_Missense_Mutation_p.Q794H|MYH14_ENST00000425460.1_Missense_Mutation_p.Q802H|MYH14_ENST00000376970.2_Missense_Mutation_p.Q827H|MYH14_ENST00000262269.8_Missense_Mutation_p.Q835H|MYH14_ENST00000598205.1_Missense_Mutation_p.Q802H|MYH14_ENST00000601313.1_Missense_Mutation_p.Q835H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	794					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.Q794H(2)|p.Q835H(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCCTGGCCCAGCTGGAAGAGG	0.647000													5	50					0.000602214	0.000619421	1	1	0
FTMT	94033	broad.mit.edu	37	5	121187709	121187709	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:121187709G>A	ENST00000321339.1	+	1	60	c.51G>A	c.(49-51)gcG>gcA	p.A17A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	17					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCGCTGGCGTCTCTGCGCC	0.726000													3	45					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99753520	99753520	+	Splice_Site	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:99753520G>C	ENST00000370185.3	+	2	719		c.e2-1		LPPR4_ENST00000457765.1_Splice_Site	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN									phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCATTCTTAGTTGCCTATAT	0.433000													5	111					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110445986	110445986	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:110445986C>G	ENST00000265175.5	+	15	2576	c.2521C>G	c.(2521-2523)Ctt>Gtt	p.L841V	SEC24B_ENST00000399100.2_Missense_Mutation_p.L806V|SEC24B_ENST00000504968.2_Missense_Mutation_p.L871V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	841					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGTACAACATCTTGGCCCTGC	0.363000													5	97					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701276	50701276	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:50701276G>A	ENST00000361387.2	-	9	1818	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.G367G	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGAAGGAGGCGCCGCAGGTCT	0.597000													14	36					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112424325	112424325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:112424325C>A	ENST00000312814.6	-	2	1116	c.556G>T	c.(556-558)Gct>Tct	p.A186S	TMEM168_ENST00000454074.1_Missense_Mutation_p.A186S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATAGCCAGAGCTACAACAAGC	0.363000													4	108					0.184627	0.186353	1	1	0
ANAPC7	51434	broad.mit.edu	37	12	110824234	110824234	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:110824234G>C	ENST00000455511.3	-	6	817	c.817C>G	c.(817-819)Cta>Gta	p.L273V	ANAPC7_ENST00000450008.2_Missense_Mutation_p.L273V	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTTCCCAATAGGTCCACGTTA	0.353000													113	162					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90035215	90035215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:90035215G>T	ENST00000317005.2	+	1	1248	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	364	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GACAGTGTTGGATGCAATTTA	0.378000													27	43					4.65686e-17	5.02941e-17	1	1	0
AIM1	202	broad.mit.edu	37	6	107009224	107009224	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:107009224T>C	ENST00000369066.3	+	18	5250	c.4763T>C	c.(4762-4764)aTt>aCt	p.I1588T	AIM1_ENST00000535438.1_Missense_Mutation_p.I407T	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1588	Ricin B-type lectin.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAGAAGCGAATTTATTTCAGA	0.418000													5	73					0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141353304	141353304	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:141353304A>G	ENST00000394520.2	+	3	460	c.151A>G	c.(151-153)Agc>Ggc	p.S51G	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000540015.1_Missense_Mutation_p.S51G|RNF14_ENST00000347642.3_Missense_Mutation_p.S51G|RNF14_ENST00000356143.1_Missense_Mutation_p.S51G|RNF14_ENST00000394515.3_Missense_Mutation_p.S51G|RNF14_ENST00000394519.1_Missense_Mutation_p.S51G	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	51	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATATTTGTGAGCGGTTAGTT	0.308000													4	66					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292355	33292355	+	Missense_Mutation	SNP	T	T	G	rs74712664		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:33292355T>G	ENST00000280979.4	+	13	5506	c.5336T>G	c.(5335-5337)aTt>aGt	p.I1779S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1779					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTCCAGTATTGCAACAGAT	0.433000													31	52					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:100349878C>T	ENST00000542585.1	+	0	2298				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507000													4	128					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872470	136872470	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:136872470T>C	ENST00000409817.1	-	1	1343	c.1040A>G	c.(1039-1041)gAg>gGg	p.E347G	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.E343G	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	343					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGACTCAGACTCAGTGGAAAC	0.403000													8	9					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520232	131520232	+	Missense_Mutation	SNP	G	G	A	rs146781752		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:131520232G>A	ENST00000423981.1	+	2	697	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	AMER3_ENST00000321420.4_Missense_Mutation_p.R196Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCTGGGGGGCGGCGAAGCAAA	0.667000													3	46					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201618190	201618190	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:201618190G>C	ENST00000367296.4	+	1	814	c.394G>C	c.(394-396)Gct>Cct	p.A132P	NAV1_ENST00000295624.6_Missense_Mutation_p.A132P|NAV1_ENST00000367297.4_Missense_Mutation_p.A132P|NAV1_ENST00000367302.1_Missense_Mutation_p.A145P|NAV1_ENST00000367300.3_Missense_Mutation_p.A132P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	132					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGGCCGTGAAGCTCCGCTGAT	0.647000													9	18					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51663382	51663382	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:51663382T>C	ENST00000409535.2	+	4	499	c.374T>C	c.(373-375)gTt>gCt	p.V125A		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGAGCCTGTTACCAAAGCA	0.463000													5	7					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247608070	247608070	+	Silent	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:247608070C>G	ENST00000366497.2	+	8	3567	c.2787C>G	c.(2785-2787)gtC>gtG	p.V929V	NLRP3_ENST00000366496.2_Silent_p.V929V|NLRP3_ENST00000336119.3_Silent_p.V986V|NLRP3_ENST00000348069.2_Silent_p.V872V|NLRP3_ENST00000391827.2_Silent_p.V929V|NLRP3_ENST00000391828.3_Silent_p.V986V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	986					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACCTGGGGGTCATGATGTTCT	0.577000													4	52					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423195	56423195	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:56423195A>T	ENST00000588751.1	-	5	2012	c.1988T>A	c.(1987-1989)cTt>cAt	p.L663H	NLRP13_ENST00000342929.3_Missense_Mutation_p.L663H			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	663							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAAATATTAAGGTCAACTTC	0.403000													4	78					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137293638	137293638	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:137293638G>A	ENST00000481739.1	+	2	241	c.189G>A	c.(187-189)ccG>ccA	p.P63P	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	63	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCATGGGCCCGCCTTTCTCGG	0.697000													77	113					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381232	147381232	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:147381232G>C	ENST00000240986.4	+	2	1203	c.1150G>C	c.(1150-1152)Gaa>Caa	p.E384Q	GJA8_ENST00000369235.1_Missense_Mutation_p.E384Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	384					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGTGAAAAAGAAGAGCCGCA	0.582000													7	6					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371099	55371099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:55371099G>T	ENST00000302231.4	-	1	775	c.751C>A	c.(751-753)Cca>Aca	p.P251T		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATATACATGGGCCAAAGAAT	0.438000													12	70					1.49906e-05	1.57183e-05	1	1	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			44	62					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121409831	121409831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:121409831C>T	ENST00000393667.3	-	14	8490	c.8380G>A	c.(8380-8382)Gcc>Acc	p.A2794T	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A2789T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2789					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.A2789T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTGAAAAGGCGGTTTCAGAA	0.423000													26	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495026	179495026	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:179495026C>T	ENST00000589042.1	-	239	44447	c.44223G>A	c.(44221-44223)acG>acA	p.T14741T	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.T5676T|TTN_ENST00000359218.5_Silent_p.T5801T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T5868T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.T13100T|TTN_ENST00000342992.6_Silent_p.T12173T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13100	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCCACCCGTCTGGTCCA	0.398000													33	47					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160982991	160982991	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:160982991G>A	ENST00000283249.2	-	11	2019	c.1782C>T	c.(1780-1782)cgC>cgT	p.R594R	ITGB6_ENST00000428609.2_Silent_p.R552R|ITGB6_ENST00000409872.1_Silent_p.R594R|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	594	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACAGTCCCCGCGCCCGCTGC	0.577000													6	99					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20866927	20866927	+	Splice_Site	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:20866927G>A	ENST00000380249.1	+	20	2470		c.e20-1		FOCAD_ENST00000338382.6_Splice_Site|FOCAD_ENST00000605086.1_Splice_Site	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin							integral to membrane	binding										ACCCTATCTAGGACCCAATTG	0.363000													14	54					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421945	105421945	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:105421945G>A	ENST00000333244.5	-	5	460	c.341C>T	c.(340-342)aCg>aTg	p.T114M		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	114	PDZ.					nucleus		p.T114M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTCAGCGTCACCTCTGT	0.602000													4	99					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90312803	90312803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:90312803C>T	ENST00000369408.5	+	4	624	c.275C>T	c.(274-276)gCg>gTg	p.A92V	ANKRD6_ENST00000339746.4_Missense_Mutation_p.A92V|ANKRD6_ENST00000485637.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A92V|ANKRD6_ENST00000522441.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A92V	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	92							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GAGATCATCGCGGCGCTCATC	0.612000													9	14					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692000													32	28					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95165776	95165776	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:95165776A>G	ENST00000325885.5	+	4	1077	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	336					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTCTTGTCCTAAAGCAATTGA	0.423000													24	61					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102785082	102785082	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:102785082T>C	ENST00000410023.1	+	7	998	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409929.1_Missense_Mutation_p.V227A|IL1R1_ENST00000424272.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409288.1_Missense_Mutation_p.V227A|IL1R1_ENST00000233946.3_Missense_Mutation_p.V227A			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	227	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ACAAGGCCTGTGATTGTGAGC	0.398000													12	138					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													4	81					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374627	1374627	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:1374627G>A	ENST00000476993.1	+	3	876	c.798G>A	c.(796-798)acG>acA	p.T266T	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T54T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	266	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAACGCCACGGACTGGATCT	0.697000													10	14					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													5	184					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964267	3964267	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:3964267G>C	ENST00000545797.2	-	4	771	c.528C>G	c.(526-528)aaC>aaG	p.N176K	DAPK3_ENST00000301264.3_Missense_Mutation_p.N176K			O43293	DAPK3_HUMAN	death-associated protein kinase 3	176	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGAAGATGTTCTTGAACT	0.627000													15	47					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404769	1404769	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:1404769A>G	ENST00000381524.3	+	4	361	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CSF2RA_ENST00000355432.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.K59E|CSF2RA_ENST00000355805.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000494969.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000432318.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381509.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000417535.2_Missense_Mutation_p.K59E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	59						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AACCTTCAGCAAGTGTTTCTT	0.473000													61	170					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183201918	183201918	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:183201918G>C	ENST00000264144.4	+	14	2211	c.2146G>C	c.(2146-2148)Gtt>Ctt	p.V716L	LAMC2_ENST00000493293.1_Missense_Mutation_p.V716L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	716	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCAGAACCGAGTTCGGGATAC	0.522000													52	100					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124359562	124359562	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124359562G>C	ENST00000287394.5	-	16	2089	c.1982C>G	c.(1981-1983)aCt>aGt	p.T661S	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTCTCACTAGTGGTATAGAT	0.423000													29	95					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65323387	65323387	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:65323387G>A	ENST00000342505.4	-	10	1658	c.1410C>T	c.(1408-1410)acC>acT	p.T470T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	470	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGTCAAAGTCGGTGCAGCTCC	0.527000			Mis		ALL								3	69					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654055	61654055	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:61654055G>C	ENST00000423902.2	+	2	543	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	CHD7_ENST00000525508.1_Missense_Mutation_p.E22Q|CHD7_ENST00000524602.1_Missense_Mutation_p.E22Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	22					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAAGGTCTTGAAGGCCTCGG	0.478000													11	11					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806708	54806708	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:54806708A>G	ENST00000306858.7	+	5	3055	c.2939A>G	c.(2938-2940)aAt>aGt	p.N980S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	980										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCATTGCTTAATTACAACACT	0.368000													6	70					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664240	124664240	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124664240G>A	ENST00000325995.7	-	1	950	c.927C>T	c.(925-927)acC>acT	p.T309T	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	309										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCCATTGGCCGGTCTGTTTGC	0.572000													4	107					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48953672	48953672	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48953672C>G	ENST00000253237.5	+	4	804	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	191						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGAGCCCCAGGCCCTGGC	0.647000													24	73					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74361141	74361141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:74361141C>T	ENST00000226355.3	+	9	1276	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	395	Albumin 2.		R -> H (in dbSNP:rs41265665).		vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGTTGTTACCGTTACGCGGT	0.388000													4	67					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2																						GATGGGACAGGTGAGTTCCCT	0.483000													5	77					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95906307	95906307	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:95906307T>C	ENST00000520509.1	-	3	307	c.55A>G	c.(55-57)Acg>Gcg	p.T19A	CCNE2_ENST00000308108.4_Missense_Mutation_p.T19A|CCNE2_ENST00000396133.3_Missense_Mutation_p.T19A			O96020	CCNE2_HUMAN	cyclin E2	19					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGGGATTCCGTCTGGCTGGGC	0.453000													9	173					0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2576020	2576020	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:2576020A>G	ENST00000397195.5	+	7	1091	c.640A>G	c.(640-642)Aaa>Gaa	p.K214E	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K43E	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	214	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CTCAAGGGATAAAACTATAAA	0.433000													22	40					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90401127	90401127	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:90401127C>G	ENST00000337338.5	+	3	2907	c.2500C>G	c.(2500-2502)Ctt>Gtt	p.L834V	LRRC8D_ENST00000394593.3_Missense_Mutation_p.L834V	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	834						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGAAGATCACCTTTTTGATAC	0.478000													51	65					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103970144	103970144	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:103970144G>C	ENST00000394785.3	-	6	1250	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V	SLC9B2_ENST00000503230.1_Missense_Mutation_p.L150V|SLC9B2_ENST00000362026.3_Missense_Mutation_p.L207V|SLC9B2_ENST00000339611.4_Missense_Mutation_p.L207V|SLC9B2_ENST00000503103.1_Missense_Mutation_p.L150V	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	207					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										CCCATGGACAGTCTTACACAA	0.453000													16	26					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57674222	57674222	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:57674222C>T	ENST00000402412.1	-	14	1653	c.1263G>A	c.(1261-1263)caG>caA	p.Q421Q	R3HDM2_ENST00000403821.2_Silent_p.Q407Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000347140.3_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	407	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567000													4	68					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45540972	45540972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:45540972G>A	ENST00000221452.8	+	12	1814	c.1664G>A	c.(1663-1665)aGc>aAc	p.S555N	RELB_ENST00000505236.1_Missense_Mutation_p.S552N|RELB_ENST00000540120.1_Missense_Mutation_p.S555N	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	555						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTTGTGGGCAGCAACATGTTC	0.701000													3	53					0	0	1	0	0
ABHD10	55347	broad.mit.edu	37	3	111705808	111705808	+	Silent	SNP	A	A	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:111705808A>C	ENST00000273359.3	+	4	513	c.486A>C	c.(484-486)gcA>gcC	p.A162A	ABHD10_ENST00000534857.1_Silent_p.A5A|ABHD10_ENST00000494817.1_Silent_p.A162A	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	162						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						TTCATGCTGCAATTGCACGAC	0.383000													34	61					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:27875353_27875355delAGG	ENST00000374011.2	-	6	4240_4242	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000247087.5_In_Frame_Del_p.S1091del	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665													7	49	---	---	---	---					
CNTN4	152330	broad.mit.edu	37	3	3078909	3078909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078909delT	ENST00000397461.1	+	17	2373	c.1989delT	c.(1987-1989)ggtfs	p.G663fs	CNTN4_ENST00000418658.1_Frame_Shift_Del_p.G663fs|CNTN4_ENST00000397459.2_Frame_Shift_Del_p.G335fs|CNTN4_ENST00000358480.3_Frame_Shift_Del_p.G444fs|CNTN4_ENST00000427331.1_Frame_Shift_Del_p.G663fs|CNTN4_ENST00000448906.2_Frame_Shift_Del_p.G335fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	663	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCGTGGTGGGTTTGAACCCTT	0.502													12	319	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	36986119	36986120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:36986119_36986120insG	ENST00000282516.8	+	10	3336_3337	c.2837_2838insG	c.(2836-2841)ttggggfs	p.LG946fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.LG946fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	946					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGTTATTTGTTGGGGGGCAGGT	0.391													60	119	---	---	---	---					
LINC00957	255031	broad.mit.edu	37	7	44080549	44080549	+	RNA	DEL	C	C	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:44080549delC	ENST00000441052.1	+	0	1234																											GCGCCCCGCACCCCCCCGGAG	0.612													9	81	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109690957	109690957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:109690957delT	ENST00000277225.5	+	3	5053	c.4764delT	c.(4762-4764)actfs	p.T1588fs	ZNF462_ENST00000441147.2_Frame_Shift_Del_p.T433fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.T1588fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1588					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACACGGCACTTTGGAGAAAC	0.532													46	69	---	---	---	---					
ZNF492	57615	broad.mit.edu	37	19	22847842	22847842	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:22847842delT	ENST00000456783.2	+	4	1615	c.1371delT	c.(1369-1371)gctfs	p.A457fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGGCAAAGCTTTTAACCAGT	0.388													106	25	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21142441	21142442	+	RNA	INS	-	-	A	rs71715453		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:21142441_21142442insA	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							TTCATTTCTGGAAAAAAAAAAA	0.366													4	6	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						32	9	---	---	---	---					
