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
BHLHB9	80823	broad.mit.edu	37	X	102005352	102005352	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:102005352G>T	ENST00000372735.1	+	4	2014	c.1429G>T	c.(1429-1431)Gca>Tca	p.A477S	BHLHB9_ENST00000448867.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A477S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A477S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	477						cytoplasm|nucleus	binding	p.A477S(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAATCCAACTGCAGCCAGAGA	0.368000													21	268					4.35082e-09	7.33018e-09	0.001523	1	0
FDPS	2224	broad.mit.edu	37	1	155290372	155290372	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:155290372C>T	ENST00000356657.6	+	11	1394	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	FDPS_ENST00000368356.4_Missense_Mutation_p.A411V|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.A345V	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	411					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	p.A411V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGGGGCTTGCGCGCAAAATC	0.502000													15	48					0	0	0.004007	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898																											AATTCAAATCATTGATTTCTG	0.289000													2	5					0	0	0.004672	0	0
RBM15	64783	broad.mit.edu	37	1	110882747	110882747	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:110882747C>T	ENST00000369784.3	+	1	1620	c.720C>T	c.(718-720)ctC>ctT	p.L240L	RBM15_ENST00000602849.1_Silent_p.L240L|RBM15_ENST00000487146.2_Silent_p.L240L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	240	RRM 1.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.L240L(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGGTGCTCTATGACCGGC	0.622000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	78					0	0	0.004007	0	0
PSMD5	5711	broad.mit.edu	37	9	123593720	123593720	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:123593720T>C	ENST00000210313.3	-	4	524	c.450A>G	c.(448-450)tcA>tcG	p.S150S	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Intron	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	p.S150S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						GTGATATTCTTGACAGGGATT	0.338000													4	116					0	0	0.000602	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021597	46021597	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr21:46021597G>T	ENST00000380102.2	+	1	1101	c.1076G>T	c.(1075-1077)tGc>tTc	p.C359F	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	359	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGCCCCGCATGCTCCCGCCCA	0.662000													12	43					2.68362e-12	4.67372e-12	0.001368	1	0
TNC	3371	broad.mit.edu	37	9	117791710	117791710	+	Missense_Mutation	SNP	C	C	A	rs112853515		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:117791710C>A	ENST00000350763.4	-	25	6509	c.6098G>T	c.(6097-6099)cGc>cTc	p.R2033L	TNC_ENST00000542877.1_Missense_Mutation_p.R1670L|TNC_ENST00000537320.1_Missense_Mutation_p.R1396L|TNC_ENST00000346706.3_Missense_Mutation_p.R1487L|TNC_ENST00000345230.3_Missense_Mutation_p.R1396L|TNC_ENST00000341037.4_Missense_Mutation_p.R1851L|TNC_ENST00000535648.1_Missense_Mutation_p.R1578L|TNC_ENST00000423613.2_Missense_Mutation_p.R1760L|TNC_ENST00000340094.3_Missense_Mutation_p.R1669L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2033	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.R2033H(1)|p.R2033L(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAAGTTCTCGCGTCCGTTTTT	0.458000													26	116					4.22769e-11	7.20102e-11	0.006320	1	0
AUP1	550	broad.mit.edu	37	2	74755112	74755112	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:74755112G>A	ENST00000377526.3	-	7	1002	c.693C>T	c.(691-693)cgC>cgT	p.R231R		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	297						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	p.R231R(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CCCCTAGTTGGCGATGAACAG	0.567000													43	122					0	0	0.002852	0	0
KCNA4	3739	broad.mit.edu	37	11	30032876	30032876	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:30032876T>C	ENST00000328224.6	-	2	2583	c.1350A>G	c.(1348-1350)cgA>cgG	p.R450R		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	450						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R450R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCCGGAATACTCGGACCAGAC	0.582000													14	68					0	0	0.002450	0	0
GABRA4	2557	broad.mit.edu	37	4	46930366	46930366	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:46930366C>T	ENST00000264318.3	-	9	2523	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	514					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G514D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTACTTGTGCCAGATCCAGA	0.433000													41	173					0	0	0.003610	0	0
RFC1	5981	broad.mit.edu	37	4	39291651	39291651	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:39291651T>C	ENST00000381897.1	-	24	3313	c.3180A>G	c.(3178-3180)gcA>gcG	p.A1060A	RFC1_ENST00000349703.2_Silent_p.A1059A	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1060					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.A1060A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGTGAAGGCTGCTTTCACCT	0.438000													47	164					0	0	0.003610	0	0
TAF2	6873	broad.mit.edu	37	8	120816177	120816177	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr8:120816177C>T	ENST00000378164.2	-	5	799	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	167					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E167E(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCATACTTCCCTCTACACTGG	0.343000													11	235					0	0	0.001368	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006764	8006764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:8006764C>A	ENST00000380149.1	-	14	2331	c.2301G>T	c.(2299-2301)caG>caT	p.Q767H	ALOXE3_ENST00000448843.2_Missense_Mutation_p.Q611H|ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q743H			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	611					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	p.Q611H(1)|p.Q743H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGGGTGGGGGCTGCCTCATGG	0.577000													5	58					0.000602214	0.000906245	0.000602	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24889824	24889824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr10:24889824C>A	ENST00000396432.2	-	14	3369	c.2883G>T	c.(2881-2883)atG>atT	p.M961I	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.M748I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	960	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.M960I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGACAACATACATCTGTTTCC	0.428000													11	128					4.68919e-08	7.65078e-08	0.008291	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													3	19					0	0	0.000248	0	0
PMS2P4	5382	broad.mit.edu	37	7	66764315	66764315	+	RNA	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr7:66764315C>T	ENST00000414507.1	-	0	140																											CTACTAACTCCTTCACCGCAG	0.458000													57	614					0	0	0.003610	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33546240	33546240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:33546240C>T	ENST00000504830.1	-	22	4705	c.4370G>A	c.(4369-4371)tGg>tAg	p.W1457*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W1372*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1457	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W1457*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTTTGTCCAATCACAGAG	0.502000										HNSCC(64;0.19)			41	65					0	0	0.002222	0	0
CSMD3	114788	broad.mit.edu	37	8	113323388	113323388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr8:113323388G>T	ENST00000297405.5	-	50	7948	c.7704C>A	c.(7702-7704)taC>taA	p.Y2568*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y2528*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y2464*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y2498*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2568	Sushi 14.					integral to membrane|plasma membrane		p.Y2568*(1)|p.Y2528*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTACTACAGTAGAAAGCTT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	58					2.39556e-15	4.26796e-15	0.002780	1	0
NCF2	4688	broad.mit.edu	37	1	183525357	183525357	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:183525357C>T	ENST00000413720.1	-	14	1616	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	NCF2_ENST00000418089.1_Missense_Mutation_p.E412K|NCF2_ENST00000367536.1_Missense_Mutation_p.E493K|NCF2_ENST00000367535.3_Missense_Mutation_p.E493K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	493					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	p.E493K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCCAGCCATTCTTCATTCACT	0.428000													9	118					0	0	0.006214	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368660	145368660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:145368660G>T	ENST00000342960.5	+	84	10673	c.10638G>T	c.(10636-10638)caG>caT	p.Q3546H	NBPF10_ENST00000369338.1_Missense_Mutation_p.Q662H|NBPF10_ENST00000369339.2_Missense_Mutation_p.Q664H	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3546								p.Q3546H(1)|p.Q662H(1)		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)		TGGTGTTCCAGATGGGAGTCA	0.448000													127	557					2.34756e-62	4.3318e-62	0.003610	1	0
ICAM1	3383	broad.mit.edu	37	19	10395637	10395637	+	Silent	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:10395637C>G	ENST00000264832.3	+	6	1684	c.1359C>G	c.(1357-1359)ggC>ggG	p.G453G	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.G231G	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	453	Ig-like C2-type 5.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.G453G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	ATCTTGAGGGCACCTACCTCT	0.612000													8	31					0	0	0.006214	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782870	140782870	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:140782870C>T	ENST00000573521.1	+	1	351	c.351C>T	c.(349-351)taC>taT	p.Y117Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAACTGTACGGAATAGAAA	0.498000													14	101					0	0	0.001855	0	0
DPP10	57628	broad.mit.edu	37	2	116534783	116534783	+	Splice_Site	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:116534783G>A	ENST00000410059.1	+	14	1701		c.e14-1		DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000409163.1_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.?(4)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCTTTGCAGAGTAAAAGTG	0.368000													3	40					0	0	0.004672	0	0
KAT2B	8850	broad.mit.edu	37	3	20082268	20082268	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr3:20082268G>A	ENST00000263754.4	+	1	754	c.299G>A	c.(298-300)tGc>tAc	p.C100Y	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	100					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	p.C100Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TACTCCGCCTGCAAGGTACGC	0.711000													9	30					0	0	0.004482	0	0
XYLT1	64131	broad.mit.edu	37	16	17294482	17294482	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr16:17294482C>T	ENST00000261381.6	-	4	1027	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	315					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E315K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACGGAGTCCTCGTCCCACTGC	0.572000													7	222					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179596231	179596231	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:179596231C>G	ENST00000589042.1	-	59	17486	c.17262G>C	c.(17260-17262)aaG>aaC	p.K5754N	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K4510N|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5437N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5437	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K4510N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGGAGCCCTTCAGAGTGG	0.473000													16	38					0	0	0.004007	0	0
CDH9	1007	broad.mit.edu	37	5	26903797	26903797	+	Missense_Mutation	SNP	G	G	T	rs143973229		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:26903797G>T	ENST00000231021.4	-	6	1120	c.948C>A	c.(946-948)ttC>ttA	p.F316L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	316	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F316L(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGATGACATCGAACATGTCTG	0.408000													18	326					8.00594e-06	1.25346e-05	0.007413	1	0
VBP1	7411	broad.mit.edu	37	X	154456755	154456755	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:154456755G>A	ENST00000286428.5	+	4	492	c.375G>A	c.(373-375)ctG>ctA	p.L125L	VBP1_ENST00000535916.1_Silent_p.L120L	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	125					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	p.L125L(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAATGTGTCTGTGGTTGGGGG	0.403000													44	169					0	0	0.002222	0	0
ITGAV	3685	broad.mit.edu	37	2	187529903	187529903	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:187529903G>T	ENST00000261023.3	+	21	2398	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	ITGAV_ENST00000374907.3_Missense_Mutation_p.Q672H|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.Q662H	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	708					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.Q708H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		AAACTCGCCAGGTGGTATGTG	0.358000													5	51					3.59834e-05	5.57742e-05	0.001168	1	0
KLHL4	56062	broad.mit.edu	37	X	86890732	86890732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:86890732C>T	ENST00000373119.4	+	9	2027	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	KLHL4_ENST00000373114.4_Missense_Mutation_p.P628S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	628						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.P628S(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCATGATGCCCCTGCTTCCAA	0.408000													30	71					0	0	0.003271	0	0
PTPRN	5798	broad.mit.edu	37	2	220167372	220167372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:220167372G>T	ENST00000295718.2	-	5	805	c.565C>A	c.(565-567)Ctg>Atg	p.L189M	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.L99M|PTPRN_ENST00000409251.3_Missense_Mutation_p.L189M	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	189					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.L189M(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGGGGCAGCAGCAGGTGCTCC	0.632000													9	53					1.08611e-07	1.75361e-07	0.000978	1	0
USH2A	7399	broad.mit.edu	37	1	216496918	216496918	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:216496918G>A	ENST00000366943.2	-	8	1834	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	USH2A_ENST00000366942.3_Missense_Mutation_p.T483M|USH2A_ENST00000307340.3_Missense_Mutation_p.T483M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	483	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T483M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTATTTGCGTGGCTTTTAC	0.413000										HNSCC(13;0.011)			8	163					0	0	0.004482	0	0
IGSF9	57549	broad.mit.edu	37	1	159900488	159900488	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:159900488G>A	ENST00000368094.1	-	14	2004	c.1807C>T	c.(1807-1809)Ccg>Tcg	p.P603S	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P587S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	603	Fibronectin type-III 1.					cell junction|integral to membrane|synapse		p.P587S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACCTTCCGGAGCAGACAAG	0.607000													4	93					0	0	0.000248	0	0
MIB2	142678	broad.mit.edu	37	1	1559174	1559174	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:1559174A>T	ENST00000357210.4	+	4	658	c.442A>T	c.(442-444)Atc>Ttc	p.I148F	MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000378708.1_Missense_Mutation_p.I90F|MIB2_ENST00000520777.1_Missense_Mutation_p.I205F|MIB2_ENST00000518681.1_Missense_Mutation_p.I205F|MIB2_ENST00000378712.1_Missense_Mutation_p.I90F|MIB2_ENST00000360522.4_Missense_Mutation_p.I148F|MIB2_ENST00000505820.2_Missense_Mutation_p.I205F|MIB2_ENST00000378710.3_Missense_Mutation_p.I148F|MIB2_ENST00000504599.1_Missense_Mutation_p.I104F|MIB2_ENST00000355826.5_Missense_Mutation_p.I191F	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	148					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.I148F(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCCAACATCATCTGTGACTG	0.677000													3	13					0	0	0.004672	0	0
MYT1	4661	broad.mit.edu	37	20	62854714	62854714	+	Splice_Site	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr20:62854714T>C	ENST00000536311.1	+	16	2973		c.e16+2		MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Splice_Site			Q01538	MYT1_HUMAN	myelin transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGACCTCAAGTATGTTTGCGC	0.552000													127	166					0	0	0.003610	0	0
VWA3B	200403	broad.mit.edu	37	2	98916570	98916570	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:98916570T>C	ENST00000477737.1	+	25	3515	c.3311T>C	c.(3310-3312)gTg>gCg	p.V1104A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1104								p.V1104A(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCCAAAATTGTGATACCCAAA	0.373000													42	192					0	0	0.003214	0	0
ZMYM5	9205	broad.mit.edu	37	13	20411811	20411811	+	Silent	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:20411811A>G	ENST00000337963.4	-	6	1287	c.1023T>C	c.(1021-1023)tgT>tgC	p.C341C	ZMYM5_ENST00000382907.4_3'UTR|ZMYM5_ENST00000382905.4_Silent_p.C341C	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	341						nucleus	zinc ion binding	p.C341C(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTAATTTACTACAAATTGTAC	0.299000													42	35					0	0	0.002522	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723154	58723154	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:58723154G>A	ENST00000300079.5	+	7	706	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.R188Q	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	188						mitochondrion	glycine N-acyltransferase activity	p.R219Q(1)|p.R188Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACTGGAAGCGAGGGAAGAAT	0.498000													21	47					0	0	0.002299	0	0
UGGT1	56886	broad.mit.edu	37	2	128867293	128867293	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:128867293A>G	ENST00000375990.3	+	5	825	c.422A>G	c.(421-423)gAg>gGg	p.E141G	UGGT1_ENST00000259253.6_Missense_Mutation_p.E165G			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	165					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.E165G(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATACCCTTGAGGCTCTTCTA	0.408000													3	98					0	0	0.000248	0	0
TEC	7006	broad.mit.edu	37	4	48151596	48151596	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:48151596T>A	ENST00000381501.3	-	11	1141	c.984A>T	c.(982-984)gaA>gaT	p.E328D	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	328	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E328D(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GCTTATGATATTCAATAATCT	0.353000													21	72					0	0	0.003330	0	0
AEBP1	165	broad.mit.edu	37	7	44149709	44149709	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr7:44149709C>T	ENST00000223357.3	+	10	1551	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	416	F5/8 type C.|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R416W(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACAGCGCGGCCGGCTCAACAT	0.652000													10	53					0	0	0.008291	0	0
KLF17	128209	broad.mit.edu	37	1	44595592	44595592	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:44595592G>A	ENST00000372299.3	+	2	707	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	217					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A217T(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCCGCAAGATGCCCATGACCT	0.567000													35	64					0	0	0.003271	0	0
MRPS5	64969	broad.mit.edu	37	2	95774073	95774073	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:95774073T>G	ENST00000272418.2	-	5	692	c.484A>C	c.(484-486)Aag>Cag	p.K162Q		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	162					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	p.K162Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCTCTTCCTTGCTTCTTTGG	0.478000													43	150					0	0	0.003610	0	0
CWC27	10283	broad.mit.edu	37	5	64070566	64070566	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:64070566A>G	ENST00000508024.1	+	2	292	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	CWC27_ENST00000381070.3_Missense_Mutation_p.K31E			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	31	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.K31E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GTTGTGGTCCAAAGAAGCTCC	0.279000													36	133					0	0	0.004878	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45687540	45687540	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr14:45687540T>C	ENST00000310806.4	-	12	3245	c.2787A>G	c.(2785-2787)aaA>aaG	p.K929K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	929	SANT.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.K929K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTGGGATCCTTTTCCTCTGG	0.438000													3	157					0	0	0.000602	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987882	154987882	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:154987882G>A	ENST00000368426.3	+	3	883	c.746G>A	c.(745-747)gGg>gAg	p.G249E	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G283E|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G249E|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G249E	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	249					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.G249E(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGGCAGTGGGCCGGGGGAC	0.647000													8	18					0	0	0.004482	0	0
MYO9B	4650	broad.mit.edu	37	19	17213241	17213241	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:17213241G>A	ENST00000595618.1	+	2	866	c.714G>A	c.(712-714)tcG>tcA	p.S238S	MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Silent_p.S238S|MYO9B_ENST00000594824.1_Silent_p.S238S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	238	Myosin head-like.			IS -> YP (in Ref. 1; AAC50402).	actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.S238S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCGTGATCTCGGGTGAGAGCG	0.642000													7	69					0	0	0.001984	0	0
REG3A	5068	broad.mit.edu	37	2	79384709	79384709	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:79384709G>A	ENST00000393878.1	-	4	703	c.449C>T	c.(448-450)tCg>tTg	p.S150L	REG3A_ENST00000305165.2_Missense_Mutation_p.S150L|REG3A_ENST00000409839.3_Missense_Mutation_p.S150L	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	150	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S150L(2)|p.S150W(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGTGCTTCTCGACAGGCTCGC	0.527000													29	93					0	0	0.007291	0	0
MOCOS	55034	broad.mit.edu	37	18	33775220	33775220	+	Splice_Site	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr18:33775220G>A	ENST00000261326.5	+	2	164	c.142_splice	c.e2-1	p.G48_splice		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	48					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.G48E(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TTTCTTTCAGGAACTGTCTAT	0.403000													9	114					0	0	0.004482	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744846	62744846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:62744846C>A	ENST00000377871.3	-	9	1641	c.1375G>T	c.(1375-1377)Gga>Tga	p.G459*	SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.G459*|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000421062.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	459					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.G459*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGCCCATTCCCATGCCTGTC	0.612000													3	18					0.004672	0.00689676	0.004672	1	0
CDH18	1016	broad.mit.edu	37	5	19612631	19612631	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:19612631C>A	ENST00000507958.1	-	8	1713	c.723G>T	c.(721-723)atG>atT	p.M241I	CDH18_ENST00000274170.4_Missense_Mutation_p.M241I|CDH18_ENST00000511273.1_Missense_Mutation_p.M241I|CDH18_ENST00000502796.1_Missense_Mutation_p.M241I|CDH18_ENST00000506372.1_Missense_Mutation_p.M241I|CDH18_ENST00000382275.1_Missense_Mutation_p.M241I			Q13634	CAD18_HUMAN	cadherin 18, type 2	241	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M241I(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTGCCCAGCCATGTCTTTGG	0.418000													26	88					6.36457e-07	1.01702e-06	0.003954	1	0
ABCA4	24	broad.mit.edu	37	1	94543389	94543389	+	Missense_Mutation	SNP	C	C	T	rs1800548	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:94543389C>T	ENST00000370225.3	-	11	1497	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ABCA4_ENST00000535735.1_Missense_Mutation_p.E471K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	471			E -> K (in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E471*(1)|p.E471K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTAATACCTTCTTCACCAAGC	0.463000													8	240					0	0	0.003080	0	0
HRNR	388697	broad.mit.edu	37	1	152193005	152193005	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:152193005C>T	ENST00000368801.2	-	3	1175	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	367					keratinization		calcium ion binding|protein binding	p.G367D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGAACCATG	0.552000													15	198					0	0	0.004990	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17966799	17966799	+	Splice_Site	SNP	T	T	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:17966799T>G	ENST00000361221.3	+	21	2431		c.e21+2		ARHGEF10L_ENST00000375408.3_Splice_Site|ARHGEF10L_ENST00000469726.1_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000167825.4_Splice_Site	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like						regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCGGACTCCGTGAGTATAGCC	0.602000													5	23					0	0	0.000602	0	0
OR4C6	219432	broad.mit.edu	37	11	55432857	55432857	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:55432857C>T	ENST00000314259.3	+	1	244	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTCATGTTCTCATCTGTCGTT	0.433000													6	173					0	0	0.001168	0	0
BLM	641	broad.mit.edu	37	15	91341436	91341436	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr15:91341436A>G	ENST00000355112.3	+	17	3345	c.3227A>G	c.(3226-3228)gAt>gGt	p.D1076G	BLM_ENST00000560509.1_Missense_Mutation_p.D1076G|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1076					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	p.D1076G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAACAAGAGATGTGACTGAC	0.294000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				7	57					0	0	0.001984	0	0
TBL2	26608	broad.mit.edu	37	7	72985560	72985560	+	Silent	SNP	G	G	T	rs150420769		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr7:72985560G>T	ENST00000305632.5	-	6	1078	c.837C>A	c.(835-837)tcC>tcA	p.S279S	TBL2_ENST00000432538.1_Silent_p.S243S|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	279								p.S279S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCACAGCCGCGGAGTGGCCCT	0.572000													6	66					0.000157383	0.000241529	0.003080	1	0
ZFP91	80829	broad.mit.edu	37	11	58378451	58378451	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:58378451G>A	ENST00000316059.6	+	5	817	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E216K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	216	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	p.E216K(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGAGGAAGAAGAGATGTTAAT	0.383000													3	82					0	0	0.000248	0	0
VPS13C	54832	broad.mit.edu	37	15	62333557	62333557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr15:62333557C>G	ENST00000261517.5	-	3	226	c.153G>C	c.(151-153)ttG>ttC	p.L51F	VPS13C_ENST00000395896.4_Missense_Mutation_p.L51F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L51F|VPS13C_ENST00000395898.3_Missense_Mutation_p.L51F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	51					protein localization			p.L51F(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGAACATCCAATTCACTCT	0.318000													16	49					0	0	0.007413	0	0
PNMA3	29944	broad.mit.edu	37	X	152226180	152226180	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:152226180C>T	ENST00000447306.1	+	2	1104	c.768C>T	c.(766-768)gcC>gcT	p.A256A	PNMA3_ENST00000370264.4_Silent_p.A256A|PNMA3_ENST00000370265.4_Silent_p.A256A	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	256					apoptosis	nucleolus	nucleic acid binding|zinc ion binding	p.A256A(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tgtgtaaagcctatcaggagg	0.488000													8	231					0	0	0.003080	0	0
MPDZ	8777	broad.mit.edu	37	9	13162689	13162689	+	Splice_Site	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:13162689C>A	ENST00000319217.7	-	23	3607		c.e23+1		MPDZ_ENST00000538841.1_Splice_Site|MPDZ_ENST00000381022.2_Splice_Site|MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000546205.1_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein						interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTTTCACTTACCTGCCAGTGT	0.378000													15	53					4.14922e-12	7.14587e-12	0.004007	1	0
ERC2	26059	broad.mit.edu	37	3	56330169	56330169	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr3:56330169G>A	ENST00000288221.6	-	3	1207	c.952C>T	c.(952-954)Cca>Tca	p.P318S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	318						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.P318S(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTTTGGATGGCAAGCCTTTA	0.458000													6	327					0	0	0.001168	0	0
FBXO4	26272	broad.mit.edu	37	5	41934094	41934094	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:41934094C>T	ENST00000296812.2	+	4	749	c.693C>T	c.(691-693)ttC>ttT	p.F231F	FBXO4_ENST00000509134.1_Silent_p.F231F|FBXO4_ENST00000281623.3_Silent_p.F231F	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	231					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.F231F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AACATAAATTCAACATTCTAA	0.328000													33	72					0	0	0.004289	0	0
VPS13A	23230	broad.mit.edu	37	9	79946930	79946930	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:79946930G>A	ENST00000360280.3	+	46	6256	c.5996G>A	c.(5995-5997)aGa>aAa	p.R1999K	VPS13A_ENST00000357409.5_Missense_Mutation_p.R1999K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1999K|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1960K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1999					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R1999K(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCCCAGATAAGAAATCATTTT	0.323000													5	189					0	0	0.000602	0	0
TTLL3	26140	broad.mit.edu	37	3	9867508	9867508	+	Silent	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr3:9867508C>A	ENST00000383827.1	+	2	2395	c.114C>A	c.(112-114)ctC>ctA	p.L38L	TTLL3_ENST00000426895.4_Silent_p.L393L|ARPC4-TTLL3_ENST00000397256.1_Silent_p.L311L|TTLL3_ENST00000397241.1_Silent_p.L38L|TTLL3_ENST00000547186.1_Silent_p.L250L|TTLL3_ENST00000455274.1_Silent_p.L38L|TTLL3_ENST00000430793.1_Silent_p.L38L|TTLL3_ENST00000427853.3_Silent_p.L38L			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	250					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.L250L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TCAGGCACCTCGACACTCAGG	0.587000													14	45					3.27435e-08	5.3992e-08	0.002450	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	103					0	0	0.001168	0	0
SBF2	81846	broad.mit.edu	37	11	9834135	9834135	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:9834135T>C	ENST00000256190.8	-	30	4236	c.4099A>G	c.(4099-4101)Act>Gct	p.T1367A		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1367	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.T1367A(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTGAGTCAGTAGGGATGGTG	0.428000													38	151					0	0	0.003755	0	0
PEG3	5178	broad.mit.edu	37	19	57325604	57325604	+	Silent	SNP	G	G	A	rs141987198	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:57325604G>A	ENST00000326441.9	-	10	4569	c.4206C>T	c.(4204-4206)gcC>gcT	p.A1402A	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.A1278A|PEG3_ENST00000423103.2_Silent_p.A1402A|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.A1276A|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1402	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A1402A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTGGCTCGGCAGCCTCCA	0.577000													15	102					0	0	0.007413	0	0
KATNAL1	84056	broad.mit.edu	37	13	30829613	30829613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:30829613C>A	ENST00000380615.3	-	4	630	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D155Y	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	155						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.D155Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTCTATAGTCCTTGTCCCTA	0.463000													114	266					2.19568e-55	4.00388e-55	0.003610	1	0
PSEN1	5663	broad.mit.edu	37	14	73659504	73659504	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr14:73659504C>A	ENST00000324501.5	+	7	973	c.701C>A	c.(700-702)gCc>gAc	p.A234D	PSEN1_ENST00000357710.4_Missense_Mutation_p.A230D|PSEN1_ENST00000557511.1_Missense_Mutation_p.A234D|PSEN1_ENST00000394164.1_Missense_Mutation_p.A230D|PSEN1_ENST00000261970.3_Missense_Mutation_p.A234D|PSEN1_ENST00000406768.1_Missense_Mutation_p.A142D|PSEN1_ENST00000344094.3_Missense_Mutation_p.A234D	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	234					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	p.A234D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		GCCCTCATGGCCCTGGTGTTT	0.448000													9	172					1.76689e-08	2.94482e-08	0.006214	1	0
CXCR2	3579	broad.mit.edu	37	2	218999975	218999975	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:218999975G>A	ENST00000318507.2	+	3	878	c.451G>A	c.(451-453)Gcc>Acc	p.A151T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	151					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.A151T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATTGTCCATGCCACACGCAC	0.537000													8	71					0	0	0.006214	0	0
BCORL1	63035	broad.mit.edu	37	X	129171500	129171500	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:129171500C>T	ENST00000540052.1	+	8	4508	c.4464C>T	c.(4462-4464)gaC>gaT	p.D1488D	BCORL1_ENST00000359304.2_Silent_p.D1358D|BCORL1_ENST00000303743.5_Silent_p.D1562D|BCORL1_ENST00000218147.7_Silent_p.D1488D	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1488					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.D1488D(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTGCGCAGGACGGCACGAGGC	0.647000													6	94					0	0	0.001168	0	0
IBSP	3381	broad.mit.edu	37	4	88732809	88732809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:88732809G>T	ENST00000226284.5	+	7	768	c.701G>T	c.(700-702)gGg>gTg	p.G234V		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	234					biomineral tissue development|cell adhesion|ossification			p.G234V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CCAAATGGTGGGTTTGAACCT	0.532000													9	39					7.48243e-07	1.18345e-06	0.006214	1	0
MUC16	94025	broad.mit.edu	37	19	9089879	9089879	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:9089879C>T	ENST00000397910.4	-	1	2139	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	646	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G646S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGGACACCGTTCGTGGCC	0.562000													10	149					0	0	0.000978	0	0
CTC1	80169	broad.mit.edu	37	17	8138437	8138437	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:8138437C>A	ENST00000315684.8	-	8	1380	c.1373G>T	c.(1372-1374)tGg>tTg	p.W458L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	458					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	p.W458L(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTGACGTTCCCACACCAGCTG	0.642000													13	52					0.000219431	0.00033345	0.002450	1	0
FRG1B	284802	broad.mit.edu	37	20	29628296	29628296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr20:29628296A>T	ENST00000278882.3	+	6	678	c.298A>T	c.(298-300)Aaa>Taa	p.K100*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CATAGAAGCAAAAAGTAAAAC	0.363000													4	50					0	0	0.000602	0	0
NF1	4763	broad.mit.edu	37	17	29490291	29490291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:29490291G>T	ENST00000358273.4	+	4	759	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E126*|NF1_ENST00000431387.4_Nonsense_Mutation_p.E126*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	126					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.E126*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACCTGTCGTGAAGGAAACCA	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			33	45					2.68265e-12	4.67372e-12	0.002836	1	0
AIF1L	83543	broad.mit.edu	37	9	133987029	133987029	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:133987029G>A	ENST00000372309.3	+	4	371	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000247291.3_Missense_Mutation_p.E47K|AIF1L_ENST00000372300.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372298.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372302.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000372312.3_Missense_Mutation_p.E52K	NM_001185095.1	NP_001172024.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	47	EF-hand 1.					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding	p.E47K(1)|p.E73K(1)		lung(2)	2						GAACCTTCCAGAAAAGCTCAC	0.557000													8	284					0	0	0.003080	0	0
MVP	9961	broad.mit.edu	37	16	29856130	29856130	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr16:29856130C>T	ENST00000357402.5	+	11	2089	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	MVP_ENST00000395353.1_Missense_Mutation_p.R651W	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	651			R -> Q (in dbSNP:rs3764944).		mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	p.R651W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCAGAGGACCCGGGACGCCCT	0.662000													8	143					0	0	0.004482	0	0
SAGE1	55511	broad.mit.edu	37	X	134993792	134993792	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chrX:134993792C>T	ENST00000535938.1	+	18	2368	c.2201C>T	c.(2200-2202)cCt>cTt	p.P734L	SAGE1_ENST00000370709.3_Missense_Mutation_p.P734L|SAGE1_ENST00000324447.3_Missense_Mutation_p.P734L|SAGE1_ENST00000537770.1_Missense_Mutation_p.P358L	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	734								p.P734L(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GATCAAACCCCTCCTGATGGC	0.418000													65	214					0	0	0.003610	0	0
GABRA2	2555	broad.mit.edu	37	4	46252531	46252531	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:46252531G>T	ENST00000510861.1	-	10	1323	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	GABRA2_ENST00000507069.1_Missense_Mutation_p.L444I|GABRA2_ENST00000540012.1_Missense_Mutation_p.L389I|GABRA2_ENST00000381620.4_Missense_Mutation_p.L384I|GABRA2_ENST00000514090.1_Missense_Mutation_p.L384I|GABRA2_ENST00000356504.1_Missense_Mutation_p.L384I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	384					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L384I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGTGGAGAGAACTGGATCT	0.418000													81	308					9.90312e-32	1.78486e-31	0.003610	1	0
FBXW9	84261	broad.mit.edu	37	19	12807331	12807331	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:12807331G>A	ENST00000380339.3	-	1	101	c.65C>T	c.(64-66)tCa>tTa	p.S22L	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Missense_Mutation_p.S22L|FBXW9_ENST00000393261.3_Missense_Mutation_p.S22L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	22							protein binding	p.S22L(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GTCTGTCTCTGACTCTGGGTC	0.667000													19	48					0	0	0.008871	0	0
UGGT2	55757	broad.mit.edu	37	13	96579553	96579553	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:96579553A>G	ENST00000376747.3	-	18	2085	c.2015T>C	c.(2014-2016)cTa>cCa	p.L672P		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	672					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.L672P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CCTATCCATTAGAAAATCAAT	0.294000													29	31					0	0	0.006320	0	0
MEGF9	1955	broad.mit.edu	37	9	123370269	123370269	+	Silent	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:123370269A>G	ENST00000373930.3	-	5	1218	c.1107T>C	c.(1105-1107)ccT>ccC	p.P369P	MEGF9_ENST00000426959.1_Silent_p.P406P	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	369	Laminin EGF-like 4.					integral to membrane	calcium ion binding	p.P406P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGTCACATTCAGGTTCCAATT	0.353000													3	124					0	0	0.000248	0	0
YTHDC1	91746	broad.mit.edu	37	4	69182124	69182124	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:69182124A>T	ENST00000344157.4	-	16	2202	c.1867T>A	c.(1867-1869)Tat>Aat	p.Y623N	YTHDC1_ENST00000355665.3_Missense_Mutation_p.Y605N|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Y631N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	623	Pro-rich.							p.Y623N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGGTGCTGATAGTAAGGATGG	0.448000													54	191					0	0	0.003610	0	0
SPATA9	83890	broad.mit.edu	37	5	95011208	95011208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr5:95011208G>A	ENST00000274432.8	-	3	427	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Nonsense_Mutation_p.Q96*	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	96					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.Q96*(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CATGCAAGCTGAGGATGCAGA	0.443000													8	97					0	0	0.003080	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39155965	39155965	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:39155965G>A	ENST00000391587.1	-	1	173	c.141C>T	c.(139-141)tgC>tgT	p.C47C		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	47	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity	p.C47C(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				AGTTGTCACAGCAGATGGGCT	0.632000													8	100					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7578427	7578427	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:7578427T>A	ENST00000420246.2	-	5	635	c.503A>T	c.(502-504)cAc>cTc	p.H168L	TP53_ENST00000269305.4_Missense_Mutation_p.H168L|TP53_ENST00000413465.2_Missense_Mutation_p.H168L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H168L|TP53_ENST00000455263.2_Missense_Mutation_p.H168L|TP53_ENST00000445888.2_Missense_Mutation_p.H168L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	168	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; 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.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(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)		CTCCGTCATGTGCTGTGACTG	0.652000		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)			5	43					0	0	0.001168	0	0
VRK3	51231	broad.mit.edu	37	19	50491663	50491663	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr19:50491663G>A	ENST00000599538.1	-	12	1847	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	VRK3_ENST00000601912.1_Missense_Mutation_p.P345S|VRK3_ENST00000601341.1_Missense_Mutation_p.P345S|VRK3_ENST00000594092.1_Missense_Mutation_p.P395S|VRK3_ENST00000316763.3_Missense_Mutation_p.P395S|VRK3_ENST00000443401.2_Missense_Mutation_p.P164S|VRK3_ENST00000593919.1_Missense_Mutation_p.P395S|VRK3_ENST00000594948.1_Missense_Mutation_p.P395S|VRK3_ENST00000377011.2_Missense_Mutation_p.P345S			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	395	Protein kinase.					nucleus	ATP binding|protein kinase activity	p.P395S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCAGTGTTGGGAAGGCAATTT	0.587000													4	129					0	0	0.000248	0	0
EXPH5	23086	broad.mit.edu	37	11	108380300	108380300	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:108380300G>C	ENST00000265843.4	-	6	6044	c.5934C>G	c.(5932-5934)taC>taG	p.Y1978*	EXPH5_ENST00000443411.1_Nonsense_Mutation_p.Y1790*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.Y1902*|EXPH5_ENST00000525344.1_Nonsense_Mutation_p.Y1971*	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1978					intracellular protein transport		Rab GTPase binding	p.Y1978*(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAGGTAGTATTCATCAT	0.383000													6	254					0	0	0.001984	0	0
LY75	4065	broad.mit.edu	37	2	160734964	160734964	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr2:160734964C>T	ENST00000263636.4	-	11	1672	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	LY75_ENST00000554112.1_Missense_Mutation_p.D549N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D549N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D549N|LY75_ENST00000553424.1_Missense_Mutation_p.D549N	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.D549N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGAGATTTATCATACTTTTTC	0.378000													5	89					0	0	0.001168	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005352	102005352	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chrX:102005352G>T	ENST00000372735.1	+	4	2014	c.1429G>T	c.(1429-1431)Gca>Tca	p.A477S	BHLHB9_ENST00000361229.4_Missense_Mutation_p.A477S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A477S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A477S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	477						cytoplasm|nucleus	binding	p.A477S(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAATCCAACTGCAGCCAGAGA	0.368000													21	268					4.35082e-09	7.43061e-09	0.001523	1	0
FDPS	2224	broad.mit.edu	37	1	155290372	155290372	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:155290372C>T	ENST00000356657.6	+	11	1394	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.A345V|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.A411V	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	411					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	p.A411V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGGGGCTTGCGCGCAAAATC	0.502000													15	48					0	0	0.004007	0	0
RBM15	64783	broad.mit.edu	37	1	110882747	110882747	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:110882747C>T	ENST00000369784.3	+	1	1620	c.720C>T	c.(718-720)ctC>ctT	p.L240L	RBM15_ENST00000602849.1_Silent_p.L240L|RBM15_ENST00000487146.2_Silent_p.L240L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	240	RRM 1.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.L240L(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGGTGCTCTATGACCGGC	0.622000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	78					0	0	0.004007	0	0
PSMD5	5711	broad.mit.edu	37	9	123593720	123593720	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr9:123593720T>C	ENST00000210313.3	-	4	524	c.450A>G	c.(448-450)tcA>tcG	p.S150S	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Intron	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	p.S150S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						GTGATATTCTTGACAGGGATT	0.338000													4	116					0	0	0.000602	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021597	46021597	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr21:46021597G>T	ENST00000380102.2	+	1	1101	c.1076G>T	c.(1075-1077)tGc>tTc	p.C359F	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	359	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGCCCCGCATGCTCCCGCCCA	0.662000													12	43					2.68362e-12	4.74314e-12	0.001368	1	0
TNC	3371	broad.mit.edu	37	9	117791710	117791710	+	Missense_Mutation	SNP	C	C	A	rs112853515		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr9:117791710C>A	ENST00000350763.4	-	25	6509	c.6098G>T	c.(6097-6099)cGc>cTc	p.R2033L	TNC_ENST00000345230.3_Missense_Mutation_p.R1396L|TNC_ENST00000423613.2_Missense_Mutation_p.R1760L|TNC_ENST00000346706.3_Missense_Mutation_p.R1487L|TNC_ENST00000341037.4_Missense_Mutation_p.R1851L|TNC_ENST00000340094.3_Missense_Mutation_p.R1669L|TNC_ENST00000537320.1_Missense_Mutation_p.R1396L|TNC_ENST00000535648.1_Missense_Mutation_p.R1578L|TNC_ENST00000542877.1_Missense_Mutation_p.R1670L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2033	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.R2033H(1)|p.R2033L(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAAGTTCTCGCGTCCGTTTTT	0.458000													26	116					4.22769e-11	7.30238e-11	0.006320	1	0
AUP1	550	broad.mit.edu	37	2	74755112	74755112	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:74755112G>A	ENST00000377526.3	-	7	1002	c.693C>T	c.(691-693)cgC>cgT	p.R231R		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	297						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	p.R231R(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CCCCTAGTTGGCGATGAACAG	0.567000													43	122					0	0	0.002852	0	0
KCNA4	3739	broad.mit.edu	37	11	30032876	30032876	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr11:30032876T>C	ENST00000328224.6	-	2	2583	c.1350A>G	c.(1348-1350)cgA>cgG	p.R450R		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	450						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R450R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCCGGAATACTCGGACCAGAC	0.582000													14	68					0	0	0.002450	0	0
GABRA4	2557	broad.mit.edu	37	4	46930366	46930366	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr4:46930366C>T	ENST00000264318.3	-	9	2523	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	514					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G514D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTACTTGTGCCAGATCCAGA	0.433000													41	173					0	0	0.003610	0	0
TAF2	6873	broad.mit.edu	37	8	120816177	120816177	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr8:120816177C>T	ENST00000378164.2	-	5	799	c.501G>A	c.(499-501)gaG>gaA	p.E167E		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	167					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E167E(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCATACTTCCCTCTACACTGG	0.343000													11	235					0	0	0.001368	0	0
PIK3R2	5296	broad.mit.edu	37	19	18266787	18266787	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr19:18266787T>C	ENST00000593731.1	+	2	658	c.98T>C	c.(97-99)gTg>gCg	p.V33A	PIK3R2_ENST00000222254.7_Missense_Mutation_p.V33A			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	33	SH3.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	p.V33A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GTGCTGGTAGTGAGCCGGGCG	0.741000													3	2					0	0	0.000248	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006764	8006764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr17:8006764C>A	ENST00000380149.1	-	14	2331	c.2301G>T	c.(2299-2301)caG>caT	p.Q767H	ALOXE3_ENST00000448843.2_Missense_Mutation_p.Q611H|ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q743H			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	611					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	p.Q611H(1)|p.Q743H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGGGTGGGGGCTGCCTCATGG	0.577000													5	58					0.000602214	0.000915366	0.000602	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24889824	24889824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr10:24889824C>A	ENST00000396432.2	-	14	3369	c.2883G>T	c.(2881-2883)atG>atT	p.M961I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.M748I|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	960	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.M960I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGACAACATACATCTGTTTCC	0.428000													11	128					4.68919e-08	7.74736e-08	0.008291	1	0
VPS13A	23230	broad.mit.edu	37	9	79946930	79946930	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr9:79946930G>A	ENST00000360280.3	+	46	6256	c.5996G>A	c.(5995-5997)aGa>aAa	p.R1999K	VPS13A_ENST00000357409.5_Missense_Mutation_p.R1999K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1999K|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1960K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1999					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R1999K(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCCCAGATAAGAAATCATTTT	0.323000													5	189					0	0	0.000602	0	0
PMS2P4	5382	broad.mit.edu	37	7	66764315	66764315	+	RNA	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr7:66764315C>T	ENST00000414507.1	-	0	140																											CTACTAACTCCTTCACCGCAG	0.458000													57	614					0	0	0.003610	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33546240	33546240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr5:33546240C>T	ENST00000504830.1	-	22	4705	c.4370G>A	c.(4369-4371)tGg>tAg	p.W1457*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W1372*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1457	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W1457*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTTTGTCCAATCACAGAG	0.502000										HNSCC(64;0.19)			41	65					0	0	0.002222	0	0
NCF2	4688	broad.mit.edu	37	1	183525357	183525357	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:183525357C>T	ENST00000413720.1	-	14	1616	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	NCF2_ENST00000367535.3_Missense_Mutation_p.E493K|NCF2_ENST00000418089.1_Missense_Mutation_p.E412K|NCF2_ENST00000367536.1_Missense_Mutation_p.E493K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	493					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	p.E493K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCCAGCCATTCTTCATTCACT	0.428000													9	118					0	0	0.006214	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368660	145368660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:145368660G>T	ENST00000342960.5	+	84	10673	c.10638G>T	c.(10636-10638)caG>caT	p.Q3546H	NBPF10_ENST00000369339.2_Missense_Mutation_p.Q664H|NBPF10_ENST00000369338.1_Missense_Mutation_p.Q662H	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3546								p.Q3546H(1)|p.Q662H(1)		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)		TGGTGTTCCAGATGGGAGTCA	0.448000													127	557					2.34756e-62	4.29914e-62	0.003610	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140782870	140782870	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr5:140782870C>T	ENST00000573521.1	+	1	351	c.351C>T	c.(349-351)taC>taT	p.Y117Y	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAACTGTACGGAATAGAAA	0.498000													14	101					0	0	0.001855	0	0
DPP10	57628	broad.mit.edu	37	2	116534783	116534783	+	Splice_Site	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:116534783G>A	ENST00000410059.1	+	14	1701		c.e14-1		DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.?(4)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCTTTGCAGAGTAAAAGTG	0.368000													3	40					0	0	0.004672	0	0
KAT2B	8850	broad.mit.edu	37	3	20082268	20082268	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr3:20082268G>A	ENST00000263754.4	+	1	754	c.299G>A	c.(298-300)tGc>tAc	p.C100Y	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	100					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	p.C100Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TACTCCGCCTGCAAGGTACGC	0.711000													9	30					0	0	0.004482	0	0
XYLT1	64131	broad.mit.edu	37	16	17294482	17294482	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr16:17294482C>T	ENST00000261381.6	-	4	1027	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	315					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E315K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACGGAGTCCTCGTCCCACTGC	0.572000													7	222					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179596231	179596231	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:179596231C>G	ENST00000589042.1	-	59	17486	c.17262G>C	c.(17260-17262)aaG>aaC	p.K5754N	TTN_ENST00000342992.6_Missense_Mutation_p.K4510N|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5437N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5437	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K4510N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGGAGCCCTTCAGAGTGG	0.473000													16	38					0	0	0.004007	0	0
CDH9	1007	broad.mit.edu	37	5	26903797	26903797	+	Missense_Mutation	SNP	G	G	T	rs143973229		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr5:26903797G>T	ENST00000231021.4	-	6	1120	c.948C>A	c.(946-948)ttC>ttA	p.F316L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	316	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F316L(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGATGACATCGAACATGTCTG	0.408000													18	326					8.00594e-06	1.26761e-05	0.007413	1	0
VBP1	7411	broad.mit.edu	37	X	154456755	154456755	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chrX:154456755G>A	ENST00000286428.5	+	4	492	c.375G>A	c.(373-375)ctG>ctA	p.L125L	VBP1_ENST00000535916.1_Silent_p.L120L	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	125					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	p.L125L(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAATGTGTCTGTGGTTGGGGG	0.403000													44	169					0	0	0.002222	0	0
ITGAV	3685	broad.mit.edu	37	2	187529903	187529903	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:187529903G>T	ENST00000261023.3	+	21	2398	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	ITGAV_ENST00000433736.2_Missense_Mutation_p.Q662H|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q672H	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	708					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.Q708H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		AAACTCGCCAGGTGGTATGTG	0.358000													5	51					3.59834e-05	5.63863e-05	0.001168	1	0
KLHL4	56062	broad.mit.edu	37	X	86890732	86890732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chrX:86890732C>T	ENST00000373119.4	+	9	2027	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	KLHL4_ENST00000373114.4_Missense_Mutation_p.P628S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	628						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.P628S(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCATGATGCCCCTGCTTCCAA	0.408000													30	71					0	0	0.003271	0	0
PTPRN	5798	broad.mit.edu	37	2	220167372	220167372	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:220167372G>T	ENST00000295718.2	-	5	805	c.565C>A	c.(565-567)Ctg>Atg	p.L189M	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.L99M|PTPRN_ENST00000409251.3_Missense_Mutation_p.L189M	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	189					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.L189M(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGGGGCAGCAGCAGGTGCTCC	0.632000													9	53					1.08611e-07	1.77514e-07	0.000978	1	0
USH2A	7399	broad.mit.edu	37	1	216496918	216496918	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:216496918G>A	ENST00000366943.2	-	8	1834	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	USH2A_ENST00000307340.3_Missense_Mutation_p.T483M|USH2A_ENST00000366942.3_Missense_Mutation_p.T483M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	483	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T483M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTATTTGCGTGGCTTTTAC	0.413000										HNSCC(13;0.011)			8	163					0	0	0.004482	0	0
IGSF9	57549	broad.mit.edu	37	1	159900488	159900488	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:159900488G>A	ENST00000368094.1	-	14	2004	c.1807C>T	c.(1807-1809)Ccg>Tcg	p.P603S	IGSF9_ENST00000361509.3_Missense_Mutation_p.P587S|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	603	Fibronectin type-III 1.					cell junction|integral to membrane|synapse		p.P587S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACCTTCCGGAGCAGACAAG	0.607000													4	93					0	0	0.000248	0	0
MIB2	142678	broad.mit.edu	37	1	1559174	1559174	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:1559174A>T	ENST00000357210.4	+	4	658	c.442A>T	c.(442-444)Atc>Ttc	p.I148F	MIB2_ENST00000520777.1_Missense_Mutation_p.I205F|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000504599.1_Missense_Mutation_p.I104F|MIB2_ENST00000378708.1_Missense_Mutation_p.I90F|MIB2_ENST00000378710.3_Missense_Mutation_p.I148F|MIB2_ENST00000378712.1_Missense_Mutation_p.I90F|MIB2_ENST00000518681.1_Missense_Mutation_p.I205F|MIB2_ENST00000505820.2_Missense_Mutation_p.I205F|MIB2_ENST00000360522.4_Missense_Mutation_p.I148F|MIB2_ENST00000355826.5_Missense_Mutation_p.I191F	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	148					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.I148F(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCCAACATCATCTGTGACTG	0.677000													3	13					0	0	0.004672	0	0
VWA3B	200403	broad.mit.edu	37	2	98916570	98916570	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:98916570T>C	ENST00000477737.1	+	25	3515	c.3311T>C	c.(3310-3312)gTg>gCg	p.V1104A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1104								p.V1104A(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCCAAAATTGTGATACCCAAA	0.373000													42	192					0	0	0.003214	0	0
ZMYM5	9205	broad.mit.edu	37	13	20411811	20411811	+	Silent	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr13:20411811A>G	ENST00000337963.4	-	6	1287	c.1023T>C	c.(1021-1023)tgT>tgC	p.C341C	ZMYM5_ENST00000382905.4_Silent_p.C341C|ZMYM5_ENST00000382907.4_3'UTR	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	341						nucleus	zinc ion binding	p.C341C(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTAATTTACTACAAATTGTAC	0.299000													42	35					0	0	0.002522	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723154	58723154	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr11:58723154G>A	ENST00000300079.5	+	7	706	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	GLYATL1_ENST00000317391.4_Missense_Mutation_p.R188Q|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	188						mitochondrion	glycine N-acyltransferase activity	p.R219Q(1)|p.R188Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACTGGAAGCGAGGGAAGAAT	0.498000													21	47					0	0	0.002299	0	0
UGGT1	56886	broad.mit.edu	37	2	128867293	128867293	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:128867293A>G	ENST00000375990.3	+	5	825	c.422A>G	c.(421-423)gAg>gGg	p.E141G	UGGT1_ENST00000259253.6_Missense_Mutation_p.E165G			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	165					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.E165G(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATACCCTTGAGGCTCTTCTA	0.408000													3	98					0	0	0.000248	0	0
AEBP1	165	broad.mit.edu	37	7	44149709	44149709	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr7:44149709C>T	ENST00000223357.3	+	10	1551	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	416	F5/8 type C.|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R416W(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACAGCGCGGCCGGCTCAACAT	0.652000													10	53					0	0	0.008291	0	0
KLF17	128209	broad.mit.edu	37	1	44595592	44595592	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:44595592G>A	ENST00000372299.3	+	2	707	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	217					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A217T(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCCGCAAGATGCCCATGACCT	0.567000													35	64					0	0	0.003271	0	0
MRPS5	64969	broad.mit.edu	37	2	95774073	95774073	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:95774073T>G	ENST00000272418.2	-	5	692	c.484A>C	c.(484-486)Aag>Cag	p.K162Q		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	162					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	p.K162Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCTCTTCCTTGCTTCTTTGG	0.478000													43	150					0	0	0.003610	0	0
CWC27	10283	broad.mit.edu	37	5	64070566	64070566	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr5:64070566A>G	ENST00000508024.1	+	2	292	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	CWC27_ENST00000381070.3_Missense_Mutation_p.K31E			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	31	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.K31E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GTTGTGGTCCAAAGAAGCTCC	0.279000													36	133					0	0	0.004878	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45687540	45687540	+	Silent	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr14:45687540T>C	ENST00000310806.4	-	12	3245	c.2787A>G	c.(2785-2787)aaA>aaG	p.K929K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	929	SANT.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.K929K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTGGGATCCTTTTCCTCTGG	0.438000													3	157					0	0	0.000602	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987882	154987882	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:154987882G>A	ENST00000368426.3	+	3	883	c.746G>A	c.(745-747)gGg>gAg	p.G249E	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G249E|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G249E|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G283E	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	249					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.G249E(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGGCAGTGGGCCGGGGGAC	0.647000													8	18					0	0	0.004482	0	0
MYO9B	4650	broad.mit.edu	37	19	17213241	17213241	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr19:17213241G>A	ENST00000595618.1	+	2	866	c.714G>A	c.(712-714)tcG>tcA	p.S238S	MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Silent_p.S238S|MYO9B_ENST00000594824.1_Silent_p.S238S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	238	Myosin head-like.			IS -> YP (in Ref. 1; AAC50402).	actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.S238S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCGTGATCTCGGGTGAGAGCG	0.642000													7	69					0	0	0.001984	0	0
REG3A	5068	broad.mit.edu	37	2	79384709	79384709	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:79384709G>A	ENST00000393878.1	-	4	703	c.449C>T	c.(448-450)tCg>tTg	p.S150L	REG3A_ENST00000305165.2_Missense_Mutation_p.S150L|REG3A_ENST00000409839.3_Missense_Mutation_p.S150L	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	150	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S150L(2)|p.S150W(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGTGCTTCTCGACAGGCTCGC	0.527000													29	93					0	0	0.007291	0	0
BCRP7	100133163	broad.mit.edu	37	22	18845998	18845998	+	RNA	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr22:18845998G>A	ENST00000412938.1	+	0	3356																											CCCGTCCTGCGCAGGCCGACA	0.607000													4	46					0	0	0.000602	0	0
MOCOS	55034	broad.mit.edu	37	18	33775220	33775220	+	Splice_Site	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr18:33775220G>A	ENST00000261326.5	+	2	164	c.142_splice	c.e2-1	p.G48_splice		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	48					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.G48E(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TTTCTTTCAGGAACTGTCTAT	0.403000													9	114					0	0	0.004482	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744846	62744846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr11:62744846C>A	ENST00000377871.3	-	9	1641	c.1375G>T	c.(1375-1377)Gga>Tga	p.G459*	SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.G459*	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	459					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.G459*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGCCCATTCCCATGCCTGTC	0.612000													3	18					0.004672	0.0069622	0.004672	1	0
CDH18	1016	broad.mit.edu	37	5	19612631	19612631	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr5:19612631C>A	ENST00000507958.1	-	8	1713	c.723G>T	c.(721-723)atG>atT	p.M241I	CDH18_ENST00000502796.1_Missense_Mutation_p.M241I|CDH18_ENST00000506372.1_Missense_Mutation_p.M241I|CDH18_ENST00000511273.1_Missense_Mutation_p.M241I|CDH18_ENST00000382275.1_Missense_Mutation_p.M241I|CDH18_ENST00000274170.4_Missense_Mutation_p.M241I			Q13634	CAD18_HUMAN	cadherin 18, type 2	241	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M241I(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTGCCCAGCCATGTCTTTGG	0.418000													26	88					6.36457e-07	1.02917e-06	0.003954	1	0
ABCA4	24	broad.mit.edu	37	1	94543389	94543389	+	Missense_Mutation	SNP	C	C	T	rs1800548	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:94543389C>T	ENST00000370225.3	-	11	1497	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ABCA4_ENST00000535735.1_Missense_Mutation_p.E471K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	471			E -> K (in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E471*(1)|p.E471K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTAATACCTTCTTCACCAAGC	0.463000													8	240					0	0	0.003080	0	0
FBXW9	84261	broad.mit.edu	37	19	12807331	12807331	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr19:12807331G>A	ENST00000380339.3	-	1	101	c.65C>T	c.(64-66)tCa>tTa	p.S22L	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Missense_Mutation_p.S22L|FBXW9_ENST00000393261.3_Missense_Mutation_p.S22L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	22							protein binding	p.S22L(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GTCTGTCTCTGACTCTGGGTC	0.667000													19	48					0	0	0.008871	0	0
HRNR	388697	broad.mit.edu	37	1	152193005	152193005	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:152193005C>T	ENST00000368801.2	-	3	1175	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	367					keratinization		calcium ion binding|protein binding	p.G367D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGAACCATG	0.552000													15	198					0	0	0.004990	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17966799	17966799	+	Splice_Site	SNP	T	T	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:17966799T>G	ENST00000361221.3	+	21	2431		c.e21+2		ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000375408.3_Splice_Site|ARHGEF10L_ENST00000469726.1_Splice_Site|ARHGEF10L_ENST00000167825.4_Splice_Site	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like						regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCGGACTCCGTGAGTATAGCC	0.602000													5	23					0	0	0.000602	0	0
OR4C6	219432	broad.mit.edu	37	11	55432857	55432857	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr11:55432857C>T	ENST00000314259.3	+	1	244	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTCATGTTCTCATCTGTCGTT	0.433000													6	173					0	0	0.001168	0	0
BLM	641	broad.mit.edu	37	15	91341436	91341436	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr15:91341436A>G	ENST00000355112.3	+	17	3345	c.3227A>G	c.(3226-3228)gAt>gGt	p.D1076G	BLM_ENST00000560509.1_Missense_Mutation_p.D1076G|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1076					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	p.D1076G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAACAAGAGATGTGACTGAC	0.294000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				7	57					0	0	0.001984	0	0
TBL2	26608	broad.mit.edu	37	7	72985560	72985560	+	Silent	SNP	G	G	T	rs150420769		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr7:72985560G>T	ENST00000305632.5	-	6	1078	c.837C>A	c.(835-837)tcC>tcA	p.S279S	TBL2_ENST00000432538.1_Silent_p.S243S|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	279								p.S279S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCACAGCCGCGGAGTGGCCCT	0.572000													6	66					0.000157383	0.000244105	0.003080	1	0
ZFP91	80829	broad.mit.edu	37	11	58378451	58378451	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr11:58378451G>A	ENST00000316059.6	+	5	817	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E216K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	216	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	p.E216K(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGAGGAAGAAGAGATGTTAAT	0.383000													3	82					0	0	0.000248	0	0
BCRP7	100133163	broad.mit.edu	37	22	18845990	18845990	+	RNA	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582000													3	38					0	0	0.000602	0	0
VPS13C	54832	broad.mit.edu	37	15	62333557	62333557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr15:62333557C>G	ENST00000261517.5	-	3	226	c.153G>C	c.(151-153)ttG>ttC	p.L51F	VPS13C_ENST00000395898.3_Missense_Mutation_p.L51F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L51F|VPS13C_ENST00000395896.4_Missense_Mutation_p.L51F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	51					protein localization			p.L51F(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGAACATCCAATTCACTCT	0.318000													16	49					0	0	0.007413	0	0
PNMA3	29944	broad.mit.edu	37	X	152226180	152226180	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chrX:152226180C>T	ENST00000447306.1	+	2	1104	c.768C>T	c.(766-768)gcC>gcT	p.A256A	PNMA3_ENST00000370265.4_Silent_p.A256A|PNMA3_ENST00000370264.4_Silent_p.A256A	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	256					apoptosis	nucleolus	nucleic acid binding|zinc ion binding	p.A256A(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tgtgtaaagcctatcaggagg	0.488000													8	231					0	0	0.003080	0	0
MPDZ	8777	broad.mit.edu	37	9	13162689	13162689	+	Splice_Site	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr9:13162689C>A	ENST00000319217.7	-	23	3607		c.e23+1		MPDZ_ENST00000381022.2_Splice_Site|MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site|MPDZ_ENST00000538841.1_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000546205.1_Splice_Site	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein						interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTTTCACTTACCTGCCAGTGT	0.378000													15	53					4.14922e-12	7.24921e-12	0.004007	1	0
FBXO4	26272	broad.mit.edu	37	5	41934094	41934094	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr5:41934094C>T	ENST00000296812.2	+	4	749	c.693C>T	c.(691-693)ttC>ttT	p.F231F	FBXO4_ENST00000281623.3_Silent_p.F231F|FBXO4_ENST00000509134.1_Silent_p.F231F	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	231					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.F231F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AACATAAATTCAACATTCTAA	0.328000													33	72					0	0	0.004289	0	0
TTLL3	26140	broad.mit.edu	37	3	9867508	9867508	+	Silent	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr3:9867508C>A	ENST00000383827.1	+	2	2395	c.114C>A	c.(112-114)ctC>ctA	p.L38L	TTLL3_ENST00000427853.3_Silent_p.L38L|TTLL3_ENST00000397241.1_Silent_p.L38L|ARPC4-TTLL3_ENST00000397256.1_Silent_p.L311L|TTLL3_ENST00000430793.1_Silent_p.L38L|TTLL3_ENST00000547186.1_Silent_p.L250L|TTLL3_ENST00000455274.1_Silent_p.L38L|TTLL3_ENST00000426895.4_Silent_p.L393L			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	250					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.L250L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TCAGGCACCTCGACACTCAGG	0.587000													14	45					3.27435e-08	5.46925e-08	0.002450	1	0
SBF2	81846	broad.mit.edu	37	11	9834135	9834135	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr11:9834135T>C	ENST00000256190.8	-	30	4236	c.4099A>G	c.(4099-4101)Act>Gct	p.T1367A		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1367	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.T1367A(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTGAGTCAGTAGGGATGGTG	0.428000													38	151					0	0	0.003755	0	0
PEG3	5178	broad.mit.edu	37	19	57325604	57325604	+	Silent	SNP	G	G	A	rs141987198	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr19:57325604G>A	ENST00000326441.9	-	10	4569	c.4206C>T	c.(4204-4206)gcC>gcT	p.A1402A	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.A1276A|PEG3_ENST00000598410.1_Silent_p.A1278A|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.A1402A|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1402	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A1402A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTGGCTCGGCAGCCTCCA	0.577000													15	102					0	0	0.007413	0	0
PSEN1	5663	broad.mit.edu	37	14	73659504	73659504	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr14:73659504C>A	ENST00000324501.5	+	7	973	c.701C>A	c.(700-702)gCc>gAc	p.A234D	PSEN1_ENST00000557511.1_Missense_Mutation_p.A234D|PSEN1_ENST00000344094.3_Missense_Mutation_p.A234D|PSEN1_ENST00000406768.1_Missense_Mutation_p.A142D|PSEN1_ENST00000261970.3_Missense_Mutation_p.A234D|PSEN1_ENST00000394164.1_Missense_Mutation_p.A230D|PSEN1_ENST00000357710.4_Missense_Mutation_p.A230D	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	234					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	p.A234D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		GCCCTCATGGCCCTGGTGTTT	0.448000													9	172					1.76689e-08	2.98409e-08	0.006214	1	0
CXCR2	3579	broad.mit.edu	37	2	218999975	218999975	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:218999975G>A	ENST00000318507.2	+	3	878	c.451G>A	c.(451-453)Gcc>Acc	p.A151T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	151					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.A151T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATTGTCCATGCCACACGCAC	0.537000													8	71					0	0	0.006214	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	6					0	0	0.004672	0	0
IBSP	3381	broad.mit.edu	37	4	88732809	88732809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr4:88732809G>T	ENST00000226284.5	+	7	768	c.701G>T	c.(700-702)gGg>gTg	p.G234V		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	234					biomineral tissue development|cell adhesion|ossification			p.G234V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CCAAATGGTGGGTTTGAACCT	0.532000													9	39					7.48243e-07	1.19719e-06	0.006214	1	0
MUC16	94025	broad.mit.edu	37	19	9089879	9089879	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr19:9089879C>T	ENST00000397910.4	-	1	2139	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	646	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G646S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGGACACCGTTCGTGGCC	0.562000													10	149					0	0	0.000978	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	by1000genomes	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr17:16734855C>T	ENST00000579062.1	-	0	460																		p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632000													4	29					0	0	0.001168	0	0
CTC1	80169	broad.mit.edu	37	17	8138437	8138437	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr17:8138437C>A	ENST00000315684.8	-	8	1380	c.1373G>T	c.(1372-1374)tGg>tTg	p.W458L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	458					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	p.W458L(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTGACGTTCCCACACCAGCTG	0.642000													13	52					0.000219431	0.000336905	0.002450	1	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	63					0	0	0.001168	0	0
BCORL1	63035	broad.mit.edu	37	X	129171500	129171500	+	Silent	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chrX:129171500C>T	ENST00000540052.1	+	8	4508	c.4464C>T	c.(4462-4464)gaC>gaT	p.D1488D	BCORL1_ENST00000359304.2_Silent_p.D1358D|BCORL1_ENST00000218147.7_Silent_p.D1488D|BCORL1_ENST00000303743.5_Silent_p.D1562D	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1488					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.D1488D(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTGCGCAGGACGGCACGAGGC	0.647000													6	94					0	0	0.001168	0	0
NF1	4763	broad.mit.edu	37	17	29490291	29490291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr17:29490291G>T	ENST00000358273.4	+	4	759	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	NF1_ENST00000431387.4_Nonsense_Mutation_p.E126*|NF1_ENST00000356175.3_Nonsense_Mutation_p.E126*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	126					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.E126*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACCTGTCGTGAAGGAAACCA	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			33	45					2.68265e-12	4.74314e-12	0.002836	1	0
AIF1L	83543	broad.mit.edu	37	9	133987029	133987029	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr9:133987029G>A	ENST00000372309.3	+	4	371	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	AIF1L_ENST00000372302.1_Missense_Mutation_p.E47K|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000372298.1_Missense_Mutation_p.E47K|AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000372312.3_Missense_Mutation_p.E52K|AIF1L_ENST00000247291.3_Missense_Mutation_p.E47K|AIF1L_ENST00000372300.1_Missense_Mutation_p.E47K	NM_001185095.1	NP_001172024.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	47	EF-hand 1.					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding	p.E47K(1)|p.E73K(1)		lung(2)	2						GAACCTTCCAGAAAAGCTCAC	0.557000													8	284					0	0	0.003080	0	0
MVP	9961	broad.mit.edu	37	16	29856130	29856130	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr16:29856130C>T	ENST00000357402.5	+	11	2089	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	MVP_ENST00000395353.1_Missense_Mutation_p.R651W	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	651			R -> Q (in dbSNP:rs3764944).		mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	p.R651W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCAGAGGACCCGGGACGCCCT	0.662000													8	143					0	0	0.004482	0	0
SAGE1	55511	broad.mit.edu	37	X	134993792	134993792	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chrX:134993792C>T	ENST00000535938.1	+	18	2368	c.2201C>T	c.(2200-2202)cCt>cTt	p.P734L	SAGE1_ENST00000324447.3_Missense_Mutation_p.P734L|SAGE1_ENST00000537770.1_Missense_Mutation_p.P358L|SAGE1_ENST00000370709.3_Missense_Mutation_p.P734L	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	734								p.P734L(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GATCAAACCCCTCCTGATGGC	0.418000													65	214					0	0	0.003610	0	0
GABRA2	2555	broad.mit.edu	37	4	46252531	46252531	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr4:46252531G>T	ENST00000510861.1	-	10	1323	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	GABRA2_ENST00000356504.1_Missense_Mutation_p.L384I|GABRA2_ENST00000381620.4_Missense_Mutation_p.L384I|GABRA2_ENST00000507069.1_Missense_Mutation_p.L444I|GABRA2_ENST00000540012.1_Missense_Mutation_p.L389I|GABRA2_ENST00000514090.1_Missense_Mutation_p.L384I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	384					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L384I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGTGGAGAGAACTGGATCT	0.418000													81	308					9.90312e-32	1.79199e-31	0.003610	1	0
UGGT2	55757	broad.mit.edu	37	13	96579553	96579553	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr13:96579553A>G	ENST00000376747.3	-	18	2085	c.2015T>C	c.(2014-2016)cTa>cCa	p.L672P		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	672					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.L672P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CCTATCCATTAGAAAATCAAT	0.294000													29	31					0	0	0.006320	0	0
MEGF9	1955	broad.mit.edu	37	9	123370269	123370269	+	Silent	SNP	A	A	G			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr9:123370269A>G	ENST00000373930.3	-	5	1218	c.1107T>C	c.(1105-1107)ccT>ccC	p.P369P	MEGF9_ENST00000426959.1_Silent_p.P406P	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	369	Laminin EGF-like 4.					integral to membrane	calcium ion binding	p.P406P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGTCACATTCAGGTTCCAATT	0.353000													3	124					0	0	0.000248	0	0
YTHDC1	91746	broad.mit.edu	37	4	69182124	69182124	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr4:69182124A>T	ENST00000344157.4	-	16	2202	c.1867T>A	c.(1867-1869)Tat>Aat	p.Y623N	YTHDC1_ENST00000355665.3_Missense_Mutation_p.Y605N|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Y631N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	623	Pro-rich.							p.Y623N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGGTGCTGATAGTAAGGATGG	0.448000													54	191					0	0	0.003610	0	0
SPATA9	83890	broad.mit.edu	37	5	95011208	95011208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr5:95011208G>A	ENST00000274432.8	-	3	427	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Nonsense_Mutation_p.Q96*	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	96					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.Q96*(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CATGCAAGCTGAGGATGCAGA	0.443000													8	97					0	0	0.003080	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39155965	39155965	+	Silent	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr17:39155965G>A	ENST00000391587.1	-	1	173	c.141C>T	c.(139-141)tgC>tgT	p.C47C		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	47	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity	p.C47C(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				AGTTGTCACAGCAGATGGGCT	0.632000													8	100					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7578427	7578427	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr17:7578427T>A	ENST00000420246.2	-	5	635	c.503A>T	c.(502-504)cAc>cTc	p.H168L	TP53_ENST00000455263.2_Missense_Mutation_p.H168L|TP53_ENST00000445888.2_Missense_Mutation_p.H168L|TP53_ENST00000269305.4_Missense_Mutation_p.H168L|TP53_ENST00000413465.2_Missense_Mutation_p.H168L|TP53_ENST00000359597.4_Missense_Mutation_p.H168L|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	168	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; 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.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(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)		CTCCGTCATGTGCTGTGACTG	0.652000		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)			5	43					0	0	0.001168	0	0
VRK3	51231	broad.mit.edu	37	19	50491663	50491663	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr19:50491663G>A	ENST00000599538.1	-	12	1847	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	VRK3_ENST00000594092.1_Missense_Mutation_p.P395S|VRK3_ENST00000601341.1_Missense_Mutation_p.P345S|VRK3_ENST00000601912.1_Missense_Mutation_p.P345S|VRK3_ENST00000594948.1_Missense_Mutation_p.P395S|VRK3_ENST00000377011.2_Missense_Mutation_p.P345S|VRK3_ENST00000316763.3_Missense_Mutation_p.P395S|VRK3_ENST00000443401.2_Missense_Mutation_p.P164S|VRK3_ENST00000593919.1_Missense_Mutation_p.P395S			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	395	Protein kinase.					nucleus	ATP binding|protein kinase activity	p.P395S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCAGTGTTGGGAAGGCAATTT	0.587000													4	129					0	0	0.000248	0	0
EXPH5	23086	broad.mit.edu	37	11	108380300	108380300	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr11:108380300G>C	ENST00000265843.4	-	6	6044	c.5934C>G	c.(5932-5934)taC>taG	p.Y1978*	EXPH5_ENST00000428840.1_Nonsense_Mutation_p.Y1902*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.Y1790*|EXPH5_ENST00000525344.1_Nonsense_Mutation_p.Y1971*	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1978					intracellular protein transport		Rab GTPase binding	p.Y1978*(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAGGTAGTATTCATCAT	0.383000													6	254					0	0	0.001984	0	0
HOXC5	3222	broad.mit.edu	37	12	54427115	54427115	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr12:54427115A>C	ENST00000312492.2	+	1	479	c.209A>C	c.(208-210)cAc>cCc	p.H70P	HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	70					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H70P(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCCCGGGCTCACCCCGACCGC	0.672000													6	33					0	0	0.008291	0	0
LY75	4065	broad.mit.edu	37	2	160734964	160734964	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr2:160734964C>T	ENST00000263636.4	-	11	1672	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D549N|LY75_ENST00000553424.1_Missense_Mutation_p.D549N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D549N|LY75_ENST00000554112.1_Missense_Mutation_p.D549N	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.D549N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGAGATTTATCATACTTTTTC	0.378000													5	89					0	0	0.001168	0	0
LOC101928979	101928979	broad.mit.edu	37	1	145382043	145382048	+	RNA	DEL	ATAGTA	ATAGTA	-			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr1:145382043_145382048delATAGTA	ENST00000419817.1	-	0	307																											TACTCAAATTATAGTACACTTACCTG	0.413													2	4	---	---	---	---					
HAUS3	79441	broad.mit.edu	37	4	2242244	2242246	+	In_Frame_Del	DEL	CTT	CTT	-	rs143139222		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr4:2242244_2242246delCTT	ENST00000243706.4	-	2	657_659	c.428_430delAAG	c.(427-432)gcc>g	p.EA143del	HAUS3_ENST00000506763.1_In_Frame_Del_p.EA143del|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_In_Frame_Del_p.EA143del	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	143					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTTTTAGTGGCTTCTTCTTCTTT	0.350													11	175	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20414277	20414278	+	In_Frame_Ins	INS	-	-	CTG			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:20414277_20414278insCTG	ENST00000380338.4	-	5	852_853	c.566_567insCAG	c.(565-567)aag>aCAGag	p.189_189K>TE	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Ins_p.186_186K>TE|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	189	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		AACTGGTActactgctgctgct	0.500			T	MLL	ALL								20	192	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797539	117797539	+	Frame_Shift_Del	DEL	G	G	-	rs148674204	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr9:117797539delG	ENST00000350763.4	-	22	6142	c.5731delC	c.(5731-5733)ggfs	p.R1911fs	TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGATGCCCGGGGGGGTCGC	0.478													7	164	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65268722	65268723	+	RNA	DEL	AT	AT	-			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:65268722_65268723delAT	ENST00000534336.1	+	0	3490_3491					NR_002819.2																						TGGGGGCAAAATATGTTTTCAG	0.396													15	68	---	---	---	---					
BCL9L	283149	broad.mit.edu	37	11	118770846	118770847	+	Frame_Shift_Ins	INS	-	-	C	rs139315833	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr11:118770846_118770847insC	ENST00000334801.3	-	7	4149_4150	c.3185_3186insG	c.(3184-3186)aggfs	p.R1062fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1062	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCATGAGGCCGCTGGGAGGGTT	0.629													24	92	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49030371	49030372	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr13:49030371_49030372insT	ENST00000267163.4	+	19	1984_1985	c.1846_1847insT	c.(1846-1848)aggfs	p.R616fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	616	Pocket; binds T and E1A.|Spacer.		K -> E (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAAAGAAAAAAGGTTCAACT	0.381		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			22	44	---	---	---	---					
TBC1D3P5	440419	broad.mit.edu	37	17	25754046	25754046	+	RNA	DEL	C	C	-			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	a614b2ce-3d15-4aa0-8403-1427e7ccf847	g.chr17:25754046delC	ENST00000586223.1	+	0	1595					NR_033892.1																						TGACGCTGTTCTTtttttttt	0.453													2	4	---	---	---	---					
LOC100131564	100131564	broad.mit.edu	37	1	93744310	93744310	+	RNA	DEL	T	T	-			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:93744310delT	ENST00000451302.2	-	0	1008				RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA																							GGAATGCaaattttttttttt	0.279													3	3	---	---	---	---					
LOC101928979	101928979	broad.mit.edu	37	1	145382043	145382048	+	RNA	DEL	ATAGTA	ATAGTA	-			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr1:145382043_145382048delATAGTA	ENST00000419817.1	-	0	307																											TACTCAAATTATAGTACACTTACCTG	0.413													2	4	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797539	117797539	+	Frame_Shift_Del	DEL	G	G	-	rs148674204	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr9:117797539delG	ENST00000350763.4	-	22	6142	c.5731delC	c.(5731-5733)ggfs	p.R1911fs	TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGATGCCCGGGGGGGTCGC	0.478													7	164	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65268722	65268723	+	RNA	DEL	AT	AT	-			TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr11:65268722_65268723delAT	ENST00000534336.1	+	0	3490_3491					NR_002819.2																						TGGGGGCAAAATATGTTTTCAG	0.396													15	68	---	---	---	---					
BCL9L	283149	broad.mit.edu	37	11	118770846	118770847	+	Frame_Shift_Ins	INS	-	-	C	rs139315833	byFrequency	TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr11:118770846_118770847insC	ENST00000334801.3	-	7	4149_4150	c.3185_3186insG	c.(3184-3186)aggfs	p.R1062fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1062	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCATGAGGCCGCTGGGAGGGTT	0.629													24	92	---	---	---	---					
DGCR5	26220	broad.mit.edu	37	22	18976301	18976324	+	RNA	DEL	TATTTATTTATTTATTTATTTATT	TATTTATTTATTTATTTATTTATT	-	rs139950802		TCGA-44-6775-01A-11D-1855-08	TCGA-44-6775-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a70a44f-84f3-440a-b898-dc3a0eff748e	4375f267-e1e2-4dfb-98c4-020e8f90de05	g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	ENST00000438934.1	+	0	394				DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA																							TGGCTGGACAtatttatttatttatttatttatttatttattta	0.411													4	6	---	---	---	---					
