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
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:16255142_16255143delGA	uc001axk.1	+	10	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs	SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431												
WDR78	79819	broad.mit.edu	37	1	67313167	67313167	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:67313167C>T	uc001dcx.3	-	8	1347	c.1291_splice	c.e8+1	p.E431_splice	WDR78_uc001dcy.3_Splice_Site_p.E431_splice|WDR78_uc009waw.3_Splice_Site_p.E177_splice|WDR78_uc009wax.3_Splice_Site	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	431	Glu-rich.									NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTAAATACCTTTTAAAACA	0.393												
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423												
FLG	2312	broad.mit.edu	37	1	152278655	152278655	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:152278655C>T	uc001ezu.1	-	2	8743	c.8707G>A	c.(8707-8709)Gac>Aac	p.D2903N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2903	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCAGAGTCTTCTGAATGT	0.562									Ichthyosis			
OR2W3	343171	broad.mit.edu	37	1	248059605	248059605	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:248059605C>T	uc010pzb.2	+	0	717	c.717C>T	c.(715-717)ggC>ggT	p.G239G	OR2W3_uc001idp.1_Silent_p.G239G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G239V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGCCTTCGGCACCTGCGGCT	0.522												
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318												
GYLTL1B	120071	broad.mit.edu	37	11	45945056	45945056	+	Silent	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:45945056T>C	uc001nbv.1	+	2	429	c.318T>C	c.(316-318)caT>caC	p.H106H	GYLTL1B_uc001nbw.1_Silent_p.H75H|GYLTL1B_uc001nbx.1_Silent_p.H106H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	106					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.H106Q(2)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GTGCGGGGCATAACTCCAGCC	0.627												
AMBRA1	55626	broad.mit.edu	37	11	46568697	46568697	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:46568697C>A	uc001ncv.2	-	3	658	c.344G>T	c.(343-345)tGc>tTc	p.C115F	AMBRA1_uc009ylc.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncu.1_Missense_Mutation_p.C115F|AMBRA1_uc010rgu.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncw.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncx.2_Missense_Mutation_p.C115F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	115					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCCATCTAGGCAGCCAGAAGC	0.443												
DDB2	1643	broad.mit.edu	37	11	47254492	47254492	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:47254492C>T	uc001neb.2	+	3	779	c.584C>T	c.(583-585)gCc>gTc	p.A195V	DDB2_uc001nec.2_Non-coding_Transcript|DDB2_uc009yli.1_Missense_Mutation_p.A131V|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	195					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CGAGTTTTTGCCAGCTCAGAC	0.453			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum			
INTS5	80789	broad.mit.edu	37	11	62416142	62416142	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:62416142C>A	uc001nud.3	-	1	1463	c.1410G>T	c.(1408-1410)ttG>ttT	p.L470F	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	470					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAAAGGGCACCAAGCGGGGAG	0.592												
KCNK4	50801	broad.mit.edu	37	11	64064379	64064379	+	Silent	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:64064379G>A	uc001nzj.1	+	2	542	c.219G>A	c.(217-219)gcG>gcA	p.A73A	KCNK4_uc009ypl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzk.1_Missense_Mutation_p.R7Q|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Silent_p.A73A|KCNK4_uc001nzo.2_Silent_p.A73A|C11orf20_uc009ypm.3_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.	73						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GAGGGGGTGCGGACCCAGAAA	0.617												
IRAK3	11213	broad.mit.edu	37	12	66597538	66597538	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr12:66597538T>C	uc001sth.3	+	1	283	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	IRAK3_uc010ssy.2_Intron	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	61	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTGAAAAGTATGTAGACCA	0.398												
STK24	8428	broad.mit.edu	37	13	99127230	99127230	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr13:99127230C>T	uc001vnm.1	-	4	713	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	STK24_uc001vnn.1_Missense_Mutation_p.A148T|STK24_uc010tim.1_Missense_Mutation_p.A129T	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	160	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGACGTTGGCCGCTGCAAAA	0.627												
POTEG	404785	broad.mit.edu	37	14	19566050	19566050	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:19566050T>C	uc001vuz.1	+	5	1146	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	365				M -> I (in Ref. 1; AAS58868).						cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAAAAACAGATGCTAAAAGTC	0.318												
NFATC4	4776	broad.mit.edu	37	14	24838971	24838971	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:24838971C>T	uc001wpc.3	+	1	688	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	NFATC4_uc010alr.3_Missense_Mutation_p.P186S|NFATC4_uc010tok.2_Missense_Mutation_p.P186S|NFATC4_uc010tol.2_Missense_Mutation_p.P186S|NFATC4_uc010als.2_Missense_Mutation_p.P136S|NFATC4_uc010too.2_Missense_Mutation_p.P136S|NFATC4_uc010tom.2_Missense_Mutation_p.P136S|NFATC4_uc010ton.2_Missense_Mutation_p.P136S|NFATC4_uc010toq.2_Missense_Mutation_p.P155S|NFATC4_uc010alt.3_Missense_Mutation_p.P155S|NFATC4_uc010top.2_Missense_Mutation_p.P155S|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P123S|NFATC4_uc010tos.2_Missense_Mutation_p.P53S|NFATC4_uc010tot.2_Missense_Mutation_p.P111S|NFATC4_uc010tou.2_Missense_Mutation_p.P53S|NFATC4_uc010tov.2_Missense_Mutation_p.P111S|NFATC4_uc010tow.2_Missense_Mutation_p.P53S|NFATC4_uc010alv.3_Missense_Mutation_p.P111S|NFATC4_uc010tox.2_Missense_Mutation_p.P53S	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	123	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTCCATCTCTCCCACGCCGGA	0.677												
MLH3	27030	broad.mit.edu	37	14	75514227	75514227	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:75514227G>C	uc001xrd.1	-	1	2348	c.2132C>G	c.(2131-2133)tCt>tGt	p.S711C	MLH3_uc001xre.1_Missense_Mutation_p.S711C|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	711					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGATGTATCAGATAATATGCA	0.363								Mismatch excision repair (MMR)				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	G	A	rs150520281	by1000genomes	TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259												
PKD1L2	114780	broad.mit.edu	37	16	81134885	81134885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr16:81134885G>A	uc002fgh.1	-	44	7217	c.7217C>T	c.(7216-7218)tCg>tTg	p.S2406L	PKD1L2_uc002fgf.1_Missense_Mutation_p.S208L|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2408	Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTTCCTCCGACAGCTGCAA	0.443												
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:7578524G>C	uc002gim.2	-	4	600	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.3_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.2_Missense_Mutation_p.Q97E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(67)|p.C135Y(53)|p.C135F(39)|p.C135W(22)|p.C135S(11)|p.C135R(9)|p.C135fs*35(9)|p.0?(8)|p.C135G(7)|p.C135*(7)|p.Q136E(6)|p.C135C(5)|p.Q136H(5)|p.C135fs*9(4)|p.Q136Q(4)|p.Q136P(3)|p.Q136fs*34(3)|p.Q136fs*13(3)|p.F134_T140>S(2)|p.Q136R(2)|p.K132_A138delKMFCQLA(2)|p.Q136K(2)|p.S127_Q136del10(2)|p.C135fs*14(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.C135_T140delCQLAKT(2)|p.C135_Q136insXXXXXX(2)|p.C135_Q136insX(2)|p.Q136L(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)		
SLC35G3	146861	broad.mit.edu	37	17	33520927	33520927	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:33520927G>A	uc002hjd.2	-	0	486	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	134	DUF6 1.					integral to membrane											GAACCTTTGCGAACAGTGGCA	0.607												
SPATA20	64847	broad.mit.edu	37	17	48626428	48626428	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:48626428C>T	uc002ird.3	+	5	682	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.P121S|SPATA20_uc002irf.3_Missense_Mutation_p.P165S|SPATA20_uc010wmv.1_Missense_Mutation_p.P191S|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	165					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGGGGCTGGCCCATGAATGT	0.657												
TYK2	7297	broad.mit.edu	37	19	10473108	10473108	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr19:10473108G>A	uc002moc.4	-	10	1879	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	TYK2_uc010dxe.3_Missense_Mutation_p.R316W|TYK2_uc002mod.2_Missense_Mutation_p.R501W	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	501	SH2; atypical.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTTCGGAGCCGCAAGCTCTGC	0.677												
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr19:35232200T>G	uc002nvu.3	+	3	1377	c.914T>G	c.(913-915)gTc>gGc	p.V305G	ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413												
C2orf55	343990	broad.mit.edu	37	2	99438353	99438353	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:99438353T>C	uc002szf.1	-	6	2677	c.2383A>G	c.(2383-2385)Acg>Gcg	p.T795A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	795	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTCCGCCGTCCTGGGCTCC	0.721												
ST6GAL2	84620	broad.mit.edu	37	2	107460277	107460277	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:107460277G>A	uc002tdq.3	-	1	276	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	ST6GAL2_uc002tdr.3_Missense_Mutation_p.P53S|ST6GAL2_uc002tds.3_Missense_Mutation_p.P53S	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	53					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P53L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCTGCACCGGCAGGAGCCTC	0.682												
RIF1	55183	broad.mit.edu	37	2	152322631	152322631	+	Silent	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:152322631T>C	uc002txm.3	+	29	6758	c.6597T>C	c.(6595-6597)aaT>aaC	p.N2199N	RIF1_uc002txn.3_Silent_p.N2199N|RIF1_uc002txl.3_Silent_p.N2199N|RIF1_uc002txo.3_Silent_p.N2199N|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2199	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.N2199H(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CACCTGTTAATAAGGTAAGGG	0.398												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
RUFY4	285180	broad.mit.edu	37	2	218940356	218940356	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:218940356G>A	uc010fvl.2	+	8	1659	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	RUFY4_uc002vgw.3_Missense_Mutation_p.A208T	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	381							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGACACGCAACAAAGGA	0.622												
CHRND	1144	broad.mit.edu	37	2	233392979	233392979	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:233392979C>A	uc002vsw.3	+	3	255	c.251C>A	c.(250-252)aCa>aAa	p.T84K	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.T69K|CHRND_uc010zmh.2_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	84					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CAGGGCTGGACAGACAACCGG	0.577												
FARP2	9855	broad.mit.edu	37	2	242423744	242423744	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:242423744C>T	uc002wbi.2	+	20	2583	c.2419C>T	c.(2419-2421)Ctg>Ttg	p.L807L		NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	807	PH 1.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCAAGGCATGCTGGTGAGTGG	0.587												
CDH4	1002	broad.mit.edu	37	20	60504710	60504710	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr20:60504710C>T	uc002ybn.2	+	12	2137	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A	CDH4_uc002ybr.2_Silent_p.A646A|CDH4_uc002ybp.2_Silent_p.A609A	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	683	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.A683A(4)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCTGGAGGCCGGGATGTATG	0.547												
TSPEAR	54084	broad.mit.edu	37	21	45987844	45987845	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr21:45987844_45987845CC>AG	uc002zfe.1	-	1	193_194	c.127_128GG>CT	c.(127-129)ggc>CTc	p.G43L	TSPEAR_uc010gpv.1_5'UTR	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	43					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTTGTGGCGCCATCAGAAGGG	0.604												
KRTAP12-4	386684	broad.mit.edu	37	21	46074201	46074201	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr21:46074201C>T	uc002zfs.1	-	0	376	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	111						keratin filament				lung(4)|ovary(1)|prostate(1)	6						GCTCAGCAGCCAGTGGGGGTG	0.622												
DLEC1	9940	broad.mit.edu	37	3	38151764	38151764	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:38151764G>C	uc003chp.1	+	22	3456	c.3435G>C	c.(3433-3435)aaG>aaC	p.K1145N	DLEC1_uc003cho.1_Missense_Mutation_p.K1145N|DLEC1_uc010hgv.1_Missense_Mutation_p.K1148N|DLEC1_uc003chr.1_Missense_Mutation_p.K251N|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1145					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGAGCAAAAAGACCAGCCTGT	0.542												
CCR3	1232	broad.mit.edu	37	3	46307517	46307517	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:46307517G>A	uc003cpl.2	+	2	1998	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	CCR3_uc003cpg.2_Missense_Mutation_p.A290T|CCR3_uc003cpk.2_Missense_Mutation_p.A311T|CCR3_uc003cpi.2_Missense_Mutation_p.A290T|CCR3_uc010hjb.2_Missense_Mutation_p.A308T|CCR3_uc003cpj.2_Missense_Mutation_p.A290T|CCR3_uc021wwz.1_Missense_Mutation_p.A290T	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	290					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		p.H323Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGAGGTGATCGCCTACTCCCA	0.522												
DNAH1	25981	broad.mit.edu	37	3	52417902	52417902	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:52417902G>A	uc011bef.2	+	51	8438	c.8177G>A	c.(8176-8178)cGt>cAt	p.R2726H	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2726	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTCCGAGCTCGTCTGAGGCAG	0.587												
PPP2R3A	5523	broad.mit.edu	37	3	135721982	135721982	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:135721982G>A	uc003eqv.2	+	1	2259	c.1642G>A	c.(1642-1644)Ggt>Agt	p.G548S	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	548					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGTTGACCGGTCAGACCCT	0.398												
PIK3CA	5290	broad.mit.edu	37	3	178936083	178936083	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:178936083A>T	uc003fjk.3	+	9	1782	c.1625A>T	c.(1624-1626)gAa>gTa	p.E542V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(686)|p.E542V(16)|p.E542Q(8)|p.E542A(6)|p.(542_545)E>K(4)|p.E542G(3)|p.S541T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
LEPREL1	55214	broad.mit.edu	37	3	189681756	189681756	+	Silent	SNP	A	A	G			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:189681756A>G	uc011bsk.2	-	13	2413	c.2025T>C	c.(2023-2025)taT>taC	p.Y675Y	LEPREL1_uc003fsg.3_Silent_p.Y494Y	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	675					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAATTCTCTATAAAGTGGGT	0.483												
ADAMTS16	170690	broad.mit.edu	37	5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:5239938G>A	uc003jdl.3	+	15	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R808Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	808	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512												
SKP2	6502	broad.mit.edu	37	5	36171807	36171807	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:36171807C>A	uc003jkc.2	+	6	1093	c.873C>A	c.(871-873)agC>agA	p.S291R	SKP2_uc003jkd.3_Missense_Mutation_p.S291R|SKP2_uc011cou.2_Missense_Mutation_p.S77R	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	291					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAATCTTAGCGGCTACAGAA	0.463												
HCN1	348980	broad.mit.edu	37	5	45695974	45695974	+	Silent	SNP	G	G	C	rs56063136		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:45695974G>C	uc003jok.3	-	0	247	c.222C>G	c.(220-222)ggC>ggG	p.G74G		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	74	Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G72_G74delGGG(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCGGCTCCTcgccgccgccgc	0.766												
MAP3K1	4214	broad.mit.edu	37	5	56177898	56177898	+	Silent	SNP	A	A	G			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:56177898A>G	uc003jqw.4	+	13	3372	c.2871A>G	c.(2869-2871)caA>caG	p.Q957Q		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	957					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAATGGTTCAAACAAAAGGCA	0.443												
ELOVL7	79993	broad.mit.edu	37	5	60053463	60053463	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:60053463C>T	uc003jsi.4	-	7	709	c.509G>A	c.(508-510)gGa>gAa	p.G170E	ELOVL7_uc011cqo.2_Missense_Mutation_p.G83E|ELOVL7_uc010iwk.3_Missense_Mutation_p.G170E|ELOVL7_uc003jsj.4_Missense_Mutation_p.G157E	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	170					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.G170R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATGGAATGTTCCCAAACCACC	0.378												
KCNK16	83795	broad.mit.edu	37	6	39285601	39285601	+	Silent	SNP	G	G	A	rs79043904		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr6:39285601G>A	uc003oor.4	-	2	470	c.456C>T	c.(454-456)gcC>gcT	p.A152A	KCNK16_uc003ooq.3_Silent_p.A152A|KCNK16_uc010jwy.3_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	152						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TTTCAATGGCGGCCAGATGGG	0.592												
AVL9	23080	broad.mit.edu	37	7	32598232	32598232	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:32598232T>C	uc003tcv.1	+	8	817	c.671T>C	c.(670-672)cTt>cCt	p.L224P	AVL9_uc011kai.2_Missense_Mutation_p.L224P|AVL9_uc010kwj.1_Missense_Mutation_p.L65P	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	224						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTTATCCCTTTTTCCAGGT	0.328												
ABCB4	5244	broad.mit.edu	37	7	87069034	87069034	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87069034C>T	uc003uiv.1	-	13	1756	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	ABCB4_uc003uiw.1_Silent_p.T560T|ABCB4_uc003uix.1_Silent_p.T560T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	560	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCAATGCTGACGTGGCCTCAT	0.537												
ABCB1	5243	broad.mit.edu	37	7	87133728	87133728	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87133728C>T	uc003uiz.2	-	28	4167	c.3674G>A	c.(3673-3675)cGc>cAc	p.R1225H	ABCB1_uc011khc.2_Missense_Mutation_p.R1161H	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1225	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R1225C(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AATGCAGGTGCGGCCTTCTCT	0.453												
LRRC6	23639	broad.mit.edu	37	8	133584685	133584685	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:133584685A>T	uc003ytk.3	-	11	1344	c.1270T>A	c.(1270-1272)Tca>Aca	p.S424T	LRRC6_uc022bbp.1_Missense_Mutation_p.S424T|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	424						cytoplasm		p.H423Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCAGGGAATGAGTGCTTGCTA	0.373												
NDRG1	10397	broad.mit.edu	37	8	134258899	134258899	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:134258899C>T	uc003yuh.2	-	12	1401	c.815G>A	c.(814-816)tGc>tAc	p.C272Y	NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Missense_Mutation_p.C83Y|NDRG1_uc003yug.2_Missense_Mutation_p.C272Y|NDRG1_uc010mee.2_Missense_Mutation_p.C191Y|NDRG1_uc010mef.2_Missense_Mutation_p.C206Y|NDRG1_uc011ljh.1_Missense_Mutation_p.C100Y|NDRG1_uc011lji.1_Missense_Mutation_p.C19Y	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	272					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TTTTGAGTTGCACTCCACCTG	0.473			T	ERG	prostate							
RASEF	158158	broad.mit.edu	37	9	85615141	85615141	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr9:85615141T>C	uc004amo.1	-	11	1927	c.1666A>G	c.(1666-1668)Agt>Ggt	p.S556G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	556					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATGAGGAAACTAGACTTCCCC	0.458												
CDKL5	6792	broad.mit.edu	37	X	18597977	18597977	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:18597977G>A	uc004cym.3	+	5	545	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CDKL5_uc004cyn.3_Missense_Mutation_p.E98K|CDKL5_uc022btn.1_Missense_Mutation_p.E89K	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	98	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAATATGCTCGAATTGCTGGA	0.328												
ZNF81	347344	broad.mit.edu	37	X	47775519	47775519	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:47775519C>A	uc022bvq.1	+	4	1723	c.1474C>A	c.(1474-1476)Cat>Aat	p.H492N	ZNF81_uc010nhy.2_Missense_Mutation_p.H492N	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	492						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TAAGAGAATTCATACAGGAGA	0.413												
ATRX	546	broad.mit.edu	37	X	76909633	76909636	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:76909633_76909636delTTTC	uc004ecp.4	-	13	4501_4504	c.4269_4272delGAAA	c.(4267-4272)aagaaafs	p.K1423fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1385fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1208fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1355fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1423					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACGTCGCCTTTTCTTTTTCTGTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome