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
ABI3BP	25890	broad.mit.edu	37	3	100489774	100489774	+	Silent	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:100489774T>C	ENST00000471714.1	-	61	4636	c.4527A>G	c.(4525-4527)caA>caG	p.Q1509Q	ABI3BP_ENST00000284322.5_Silent_p.Q807Q|ABI3BP_ENST00000383691.4_Silent_p.Q761Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	807						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCAGGCTTTTGGATGTATC	0.468000													19	120					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2906139	2906139	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:2906139G>A	ENST00000161006.3	-	3	290	c.225C>T	c.(223-225)tgC>tgT	p.C75C	PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Silent_p.C75C	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	75	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GAGAACCTGCGCAGTGGTGGG	0.617000													14	81					0	0	1	0	0
HMGA2	8091	broad.mit.edu	37	12	66221789	66221789	+	Silent	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:66221789C>T	ENST00000541363.1	+	2	493	c.120C>T	c.(118-120)acC>acT	p.T40T	HMGA2_ENST00000354636.3_Silent_p.T40T|HMGA2_ENST00000403681.2_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|HMGA2_ENST00000536545.1_Silent_p.T40T|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000393577.3_Silent_p.T40T			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	40					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AGGAACCAACCGGTGAGCCCT	0.448000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								4	59					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418000													6	166					0	0	1	0	0
PAFAH1B3	5050	broad.mit.edu	37	19	42804340	42804340	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:42804340C>G	ENST00000538771.1	-	4	624	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.E90Q	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	90					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CGGATGTGTTCCAGCTCCCCA	0.562000													4	76					0	0	1	0	0
C1orf131	128061	broad.mit.edu	37	1	231364922	231364922	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:231364922C>T	ENST00000318906.2	-	3	512	c.484G>A	c.(484-486)Gat>Aat	p.D162N	C1orf131_ENST00000366651.3_Missense_Mutation_p.D161N|C1orf131_ENST00000366649.2_Missense_Mutation_p.D162N			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	162										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTTGTGTATCCACATCTCTC	0.264000													3	36					0	0	1	0	0
IGHA1	0	broad.mit.edu	37	14	106173569	106173569	+	RNA	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr14:106173569G>A	ENST00000390547.2	-	0	997																											GGGTTTACCCGCCAAGCGGTC	0.622000													12	71					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13006897	13006897	+	Silent	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:13006897A>G	ENST00000222214.5	+	7	808	c.597A>G	c.(595-597)tcA>tcG	p.S199S	GCDH_ENST00000591470.1_Silent_p.S199S|GCDH_ENST00000457854.1_Silent_p.S199S|GCDH_ENST00000422947.2_Silent_p.S155S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	199					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						ACTACAACTCATCCAACAAGA	0.612000													4	115					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55605714	55605714	+	Splice_Site	SNP	T	T	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:55605714T>G	ENST00000263433.3	-	13	1697	c.1683_splice	c.e13+1	p.Q561_splice	PPP1R12C_ENST00000435544.2_Splice_Site_p.Q487_splice|PPP1R12C_ENST00000376393.2_Splice_Site_p.Q561_splice	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	561						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACCCCACACCTGTGTGGACCT	0.657000													20	102					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130750571	130750571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:130750571G>A	ENST00000265909.4	-	9	3273	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	SNX19_ENST00000528555.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q345*|SNX19_ENST00000534726.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000545537.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000426933.2_Nonsense_Mutation_p.Q70*	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	902					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCCAGTTTCTGCTCTTGGGTC	0.517000													45	232					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575424	19575424	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:19575424G>T	ENST00000328405.2	+	16	3423	c.3157G>T	c.(3157-3159)Ggc>Tgc	p.G1053C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1053	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCAGAGGAGGGCAGCTTCAG	0.488000													5	51					0.014758	0.0149922	1	1	0
PRDM1	639	broad.mit.edu	37	6	106555167	106555167	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:106555167G>A	ENST00000369096.4	+	7	2518	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	PRDM1_ENST00000369089.3_Missense_Mutation_p.V628M|PRDM1_ENST00000369091.2_Missense_Mutation_p.V726M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	762					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AATTCTGGCCGTGGTCAGAAA	0.478000			"""D, N, Mis, F, S"""		DLBCL								25	57					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080904	152080904	+	Missense_Mutation	SNP	A	A	T	rs71585886		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:152080904A>T	ENST00000368804.1	-	2	4788	c.4789T>A	c.(4789-4791)Ttc>Atc	p.F1597I		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1597	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCATGAATTTTCTCTCT	0.582000													33	61					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81625071	81625071	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:81625071C>T	ENST00000558726.1	-	22	3130	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E998K|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	998						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCAAAATCTTCATTCCACGAC	0.562000													7	25					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83839856	83839856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:83839856C>T	ENST00000349129.2	+	17	2616	c.2356C>T	c.(2356-2358)Cag>Tag	p.Q786*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q777*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q767*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	786					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGAGCATGTGCAGCCTCCACA	0.418000													21	49					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642210	196642210	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:196642210C>A	ENST00000367429.4	+	2	401	c.161C>A	c.(160-162)cCt>cAt	p.P54H	CFH_ENST00000439155.2_Missense_Mutation_p.P54H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000359637.2_Missense_Mutation_p.P54H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	54	Sushi 1.			RP -> IL (in Ref. 5; CAB41739).	complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATGCCGCCCTGGATATAGA	0.403000													7	106					0.00621372	0.00641416	1	1	0
SHF	90525	broad.mit.edu	37	15	45470424	45470424	+	Silent	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:45470424T>C	ENST00000290894.8	-	3	878	c.384A>G	c.(382-384)ccA>ccG	p.P128P	SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000560734.1_Silent_p.P193P|SHF_ENST00000560471.1_Silent_p.P193P|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_Silent_p.P193P|SHF_ENST00000318390.6_Silent_p.P185P	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	128										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GGACCTTCTCTGGGGCTCCTG	0.567000													16	34					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139411837	139411837	+	Splice_Site	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:139411837C>A	ENST00000277541.6	-	9	1517	c.1441_splice	c.e9-1	p.G481_splice		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTCGTAGCCTGTGGGGTG	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	10					1.23904e-05	1.32164e-05	1	1	0
SRPK2	6733	broad.mit.edu	37	7	104782648	104782648	+	Silent	SNP	T	T	C	rs56003957	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr7:104782648T>C	ENST00000357311.3	-	10	1488	c.1317A>G	c.(1315-1317)ccA>ccG	p.P439P	SRPK2_ENST00000393651.3_Silent_p.P450P|SRPK2_ENST00000489828.1_Silent_p.P439P	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	439	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTCGTCCATTTGGCAATTCAC	0.443000													22	118					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71590305	71590305	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:71590305A>C	ENST00000409544.1	+	4	2032	c.1402A>C	c.(1402-1404)Atc>Ctc	p.I468L	ZNF638_ENST00000355812.3_Missense_Mutation_p.I468L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.I468L|ZNF638_ENST00000264447.4_Missense_Mutation_p.I468L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	468					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAATCCTGAGATCCTCCCATC	0.264000													21	42					0	0	1	0	0
CEPT1	10390	broad.mit.edu	37	1	111726868	111726868	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:111726868C>T	ENST00000545121.1	+	9	1395	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	CEPT1_ENST00000357172.4_Missense_Mutation_p.A396V|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	396						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AATCAGATTGCGTCTCACCTG	0.398000													5	110					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								28	78					9.17885e-22	1.03061e-21	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22939400	22939400	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:22939400G>C	ENST00000397104.3	-	7	2770	c.2771C>G	c.(2770-2772)gCt>gGt	p.A924G						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCTTAAAAGCTTTGCCACA	0.368000													3	65					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234905020	234905020	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:234905020A>G	ENST00000324695.4	+	22	3030	c.2990A>G	c.(2989-2991)cAg>cGg	p.Q997R	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q575R	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	997						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGAAGTTCCAGAGGTACTTC	0.537000													8	70					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100346642	100346642	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:100346642C>T	ENST00000294724.4	+	15	2388	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	AGL_ENST00000370163.3_Missense_Mutation_p.A637V|AGL_ENST00000361522.4_Missense_Mutation_p.A620V|AGL_ENST00000361302.3_Missense_Mutation_p.A621V|AGL_ENST00000361915.3_Missense_Mutation_p.A637V|AGL_ENST00000370161.2_Missense_Mutation_p.A621V|AGL_ENST00000370165.3_Missense_Mutation_p.A637V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	637					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATAGATCAGCGTATGATGCT	0.353000													13	55					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000839	121000839	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:121000839T>C	ENST00000392793.1	+	10	3131	c.2860T>C	c.(2860-2862)Tgt>Cgt	p.C954R	TECTA_ENST00000264037.2_Missense_Mutation_p.C954R			O75443	TECTA_HUMAN	tectorin alpha	954					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCAGAGCTCTGTGACTCTGT	0.602000													4	108					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146852	154146852	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:154146852C>T	ENST00000389740.2	-	1	652	c.553G>A	c.(553-555)Gac>Aac	p.D185N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	185						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAGCAGTCCACCAGGCAG	0.657000													7	37					0	0	1	0	0
STATH	6779	broad.mit.edu	37	4	70866654	70866654	+	Silent	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:70866654A>G	ENST00000246895.4	+	5	288	c.177A>G	c.(175-177)caA>caG	p.Q59Q	STATH_ENST00000381060.2_Silent_p.Q49Q	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	59	Hydrophobic; inhibits precipitation of calcium phosphate salts.				biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						AATACCAACAATATACCTTTT	0.373000													38	127					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109770958	109770958	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:109770958T>C	ENST00000368952.4	-	10	1683	c.1393A>G	c.(1393-1395)Aca>Gca	p.T465A	MICAL1_ENST00000358807.3_Missense_Mutation_p.T446A|MICAL1_ENST00000358577.3_Missense_Mutation_p.T360A			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	446					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGGGATGTCTGTGACAGA	0.607000													15	127					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44532367	44532367	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr22:44532367C>G	ENST00000338758.6	+	7	724	c.661C>G	c.(661-663)Cac>Gac	p.H221D	PARVB_ENST00000404989.1_Missense_Mutation_p.H184D|PARVB_ENST00000406477.3_Missense_Mutation_p.H254D	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	221					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCATTCCAGCCACATCTCGGA	0.557000													4	122					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													3	72					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958837	49958837	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:49958837C>T	ENST00000376056.2	-	5	650	c.500G>A	c.(499-501)cGt>cAt	p.R167H	AKAP4_ENST00000376064.3_Missense_Mutation_p.R167H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176H|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167H			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	176					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATTTCTAGACGTAGGTTTTG	0.443000													44	51					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79635448	79635448	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:79635448C>T	ENST00000376708.1	+	1	878	c.878C>T	c.(877-879)tCc>tTc	p.S293F		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	293					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCCTTGGCGTCCGTCATGCAC	0.662000													15	51					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14031642	14031642	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:14031642G>A	ENST00000311895.7	+	9	1840	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	611			Missing (in XP-F).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCTTATATACGGAGGTTCAAC	0.363000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				18	45					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	429780	429780	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:429780G>A	ENST00000332826.6	-	10	894	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	270						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAAGATGGCGAACACCACCG	0.662000													3	32					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70877920	70877920	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:70877920A>G	ENST00000322773.4	+	38	2551	c.2449A>G	c.(2449-2451)Att>Gtt	p.I817V	COL19A1_ENST00000393344.1_Missense_Mutation_p.I439V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	817	Triple-helical region 4 (COL4).			GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCTAAGGGTATTCCATTTAA	0.279000													11	75					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158850782	158850782	+	Silent	SNP	G	G	A	rs142500811		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:158850782G>A	ENST00000367097.3	+	3	1753	c.396G>A	c.(394-396)acG>acA	p.T132T	TULP4_ENST00000367094.2_Silent_p.T132T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	132					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGATTTCACGTGGAGCCATG	0.408000													7	196					0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175533580	175533580	+	Silent	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:175533580C>A	ENST00000253490.4	+	16	906	c.849C>A	c.(847-849)gcC>gcA	p.A283A	FAM153B_ENST00000515817.1_Silent_p.A206A|FAM153B_ENST00000512862.1_Silent_p.A74A|FAM153B_ENST00000510151.1_Silent_p.A206A			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	283										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGGACCCAGCCACGCCGGCAA	0.473000													17	204					3.3946e-10	3.68228e-10	1	1	0
RNF145	153830	broad.mit.edu	37	5	158621725	158621725	+	Splice_Site	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:158621725T>C	ENST00000424310.2	-	3	651	c.293_splice	c.e3+1	p.R98_splice	RNF145_ENST00000519865.1_Splice_Site_p.R98_splice|RNF145_ENST00000274542.2_Splice_Site_p.R126_splice|RNF145_ENST00000520638.1_Splice_Site_p.R112_splice|RNF145_ENST00000518802.1_Splice_Site_p.R128_splice|RNF145_ENST00000521606.2_Splice_Site_p.R115_splice	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	98						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTCTTACCTGGAAATTTGA	0.363000													53	119					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184628079	184628079	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:184628079T>G	ENST00000334690.6	+	28	3377	c.3175T>G	c.(3175-3177)Tca>Gca	p.S1059A	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S1059A|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S665A	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	1059																	CTTCATGTTCTCAGGTCTCAA	0.418000													7	62					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357728	40357728	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:40357728G>A	ENST00000221347.6	-	34	15592	c.15585C>T	c.(15583-15585)agC>agT	p.S5195S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5195	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACAGCGCTCGCTGCAGTCTG	0.587000													11	33					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266883	48266883	+	Silent	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:48266883T>C	ENST00000302329.3	+	1	276	c.228T>C	c.(226-228)gaT>gaC	p.D76D		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATCTCAGATCTGCTGGCTG	0.512000													4	123					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													3	45					0.004672	0.00490177	1	1	0
RHBDF1	64285	broad.mit.edu	37	16	111434	111434	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:111434G>A	ENST00000262316.6	-	10	1486	c.1344C>T	c.(1342-1344)taC>taT	p.Y448Y	RHBDF1_ENST00000454039.2_Silent_p.Y448Y	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	448					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACGTTCTCGTAGACCCCGC	0.716000													4	40					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34866651	34866651	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:34866651C>T	ENST00000431794.3	-	13	1613	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	MYO19_ENST00000268852.9_Missense_Mutation_p.R364Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	364	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGGGCTTCCGGAACACCTG	0.627000													6	10					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40286033	40286033	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:40286033C>A	ENST00000302541.6	+	13	2539	c.2197C>A	c.(2197-2199)Cat>Aat	p.H733N	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.H733N|MYRIP_ENST00000396217.3_Missense_Mutation_p.H644N|MYRIP_ENST00000539167.1_Missense_Mutation_p.H546N|MYRIP_ENST00000425621.1_Missense_Mutation_p.H668N	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	733	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGATGAGACCCATCTGGCGGA	0.602000													3	72					1	1	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975874	76975874	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:76975874T>C	ENST00000409911.1	-	3	1946	c.1723A>G	c.(1723-1725)Acc>Gcc	p.T575A	LRRTM4_ENST00000409093.1_Missense_Mutation_p.T574A|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T574A	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	574						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGGCGATGGTGGCGATGAAG	0.617000													45	143					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872820	237872820	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:237872820C>T	ENST00000366574.2	+	70	10500	c.10183C>T	c.(10183-10185)Ctc>Ttc	p.L3395F	RYR2_ENST00000360064.6_Missense_Mutation_p.L3393F|RYR2_ENST00000542537.1_Missense_Mutation_p.L3379F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3395					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAGGAGCTCTTCCGCAT	0.418000													9	10					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878264	5878264	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:5878264A>C	ENST00000537935.1	-	1	700	c.669T>G	c.(667-669)taT>taG	p.Y223*	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCCTGACATAGGAGAGAA	0.463000													10	25					0	0	1	0	0
PTPRB	0	broad.mit.edu	37	12	70954486	70954486	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:70954486T>C	ENST00000334414.6	-	17	4441	c.4397A>G	c.(4396-4398)gAt>gGt	p.D1466G	PTPRB_ENST00000261266.5_Missense_Mutation_p.D1248G|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1158G|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1378G|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1465G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1248	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTGCTGAGATCTCCACTGTG	0.512000													9	50					0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113803068	113803068	+	Silent	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113803068C>A	ENST00000260191.2	+	5	683	c.426C>A	c.(424-426)acC>acA	p.T142T	HTR3B_ENST00000537778.1_Silent_p.T131T	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	142					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CATCTGGGACCATTGAGAACT	0.433000													15	151					2.35188e-11	2.59518e-11	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89348104	89348104	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:89348104C>T	ENST00000301030.4	-	9	5306	c.4846G>A	c.(4846-4848)Gga>Aga	p.G1616R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1616R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1616	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGGGGTCTCCGGACCGGTGC	0.607000													21	87					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46893136	46893136	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:46893136G>A	ENST00000378623.1	-	31	4874	c.4632C>T	c.(4630-4632)ctC>ctT	p.L1544L	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1544					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTTCCCATTGAGGTCAGCAC	0.557000													10	13					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16990512	16990512	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr10:16990512C>G	ENST00000377833.4	-	35	5239	c.5174G>C	c.(5173-5175)gGg>gCg	p.G1725A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1725	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGGAAACCCCCAGCACTGAT	0.512000													11	49					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													5	234					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846502	228846502	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:228846502G>A	ENST00000392056.3	-	12	5080	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	SPHKAP_ENST00000344657.5_Silent_p.Y1649Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1678						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCATTTTGCAGTACTGGACAA	0.463000													4	91					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			27	11					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2592978	2592978	+	Missense_Mutation	SNP	G	G	C	rs138720906		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:2592978G>C	ENST00000358864.1	+	13	1750	c.1735G>C	c.(1735-1737)Gtg>Ctg	p.V579L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	579						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGAGACAGCTGTGGGCATTGT	0.488000													8	126					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910530	35910530	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:35910530G>A	ENST00000397367.2	-	3	379	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	CAPSL_ENST00000397366.1_Missense_Mutation_p.R85W|CAPSL_ENST00000514524.1_Missense_Mutation_p.R85W	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	85	EF-hand 2.		R -> Q (in dbSNP:rs1445898).			cytoplasm	calcium ion binding	p.R85R(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCAAACCTCCGGAAAAGTTCT	0.358000													14	74					0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)gcfs	p.S277fs	SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													7	207	---	---	---	---					
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)cafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617													11	488	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													2	4	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						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)					CCATTCACATCAGCAGCAGCAGC	0.340													8	142	---	---	---	---					
TRDN	10345	broad.mit.edu	37	6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)ttafs	p.L297fs	TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			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)		AGATCTTTAAGAAAAAAAAAAG	0.386													3	3	---	---	---	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr10:70156583delT	ENST00000388768.2	-	4	783	c.457delA	c.(457-459)tgfs	p.M153fs	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000399200.2_Intron	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													9	73	---	---	---	---					
ZW10	9183	broad.mit.edu	37	11	113614641	113614641	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113614641delT	ENST00000200135.3	-	10	1538	c.1394delA	c.(1393-1395)atfs	p.N465fs		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	465					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GTCCAATGTATTTTCAGGCTC	0.418													64	154	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aggfs	p.R1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559													7	175	---	---	---	---					
LAMA5	3911	broad.mit.edu	37	20	60886842	60886843	+	Splice_Site	INS	-	-	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:60886842_60886843insG	ENST00000252999.3	-	71	9702		c.e71-2			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAGACTCTGGGGGGCGGGA	0.698													5	6	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			5	5	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76874329	76874330	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:76874329_76874330insT	ENST00000373344.5	-	21	5606_5607	c.5392_5393insA	c.(5392-5394)agtfs	p.S1798fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.S1760fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1798					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)	TTTCATCACTCTGACATCTACC	0.322			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						82	51	---	---	---	---