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
FLG	2312	broad.mit.edu	37	1	152277449	152277449	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:152277449G>A	ENST00000368799.1	-	3	9948	c.9913C>T	c.(9913-9915)Cgc>Tgc	p.R3305C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3305	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3305S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCGTGT	0.567000									Ichthyosis				7	772					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090590	184090590	+	Missense_Mutation	SNP	C	C	T	rs147206404		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:184090590C>T	ENST00000204615.7	-	6	987	c.773G>A	c.(772-774)cGt>cAt	p.R258H	THPO_ENST00000421442.2_Silent_p.S219S|THPO_ENST00000445696.2_Missense_Mutation_p.R254H|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	258					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGAGTCCACGAGTTCCATT	0.562000													61	105					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48764386	48764386	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:48764386C>T	ENST00000371847.3	-	13	1630	c.1466G>A	c.(1465-1467)tGa>tAa	p.*489*	SPATA6_ENST00000396199.3_Silent_p.*417*|SPATA6_ENST00000371843.3_Silent_p.*473*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	0					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGGATGGTCTCAGAAGCTTTC	0.373000													58	88					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													7	86					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90419964	90419964	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:90419964G>A	ENST00000406263.1	+	4	845	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	CDK14_ENST00000436577.2_Missense_Mutation_p.E52K|CDK14_ENST00000265741.3_Missense_Mutation_p.E163K|CDK14_ENST00000380050.3_Missense_Mutation_p.E181K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	181	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AGCTATCAGGGAAGGTAGGCA	0.398000													20	32					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148857966	148857966	+	Silent	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:148857966G>A	ENST00000296051.2	+	2	533	c.393G>A	c.(391-393)ccG>ccA	p.P131P	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	131						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGAAATGCCGCTTTCGGAGG	0.453000									Hermansky-Pudlak syndrome				5	150					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107920732	107920732	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chrX:107920732C>T	ENST00000328300.6	+	44	4055	c.3811C>T	c.(3811-3813)Cta>Tta	p.L1271L	COL4A5_ENST00000361603.2_Silent_p.L1265L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1265	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTATTAAGGTCTACCAGGTCC	0.438000									Alport syndrome with Diffuse Leiomyomatosis				35	16					0	0	1	0	0
MZT1	440145	broad.mit.edu	37	13	73293187	73293187	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr13:73293187G>A	ENST00000377818.3	-	2	212	c.128C>T	c.(127-129)aCt>aTt	p.T43I		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	43					gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AATAGACAGAGTTTCCATATC	0.343000													34	46					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68619112	68619112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr15:68619112C>T	ENST00000423218.2	-	17	2186	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	ITGA11_ENST00000315757.7_Missense_Mutation_p.M697I			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	697					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCCTCTCATCCATGGTGGCGT	0.622000													3	8					0	0	1	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.136_splice	c.e3-1	p.G46_splice	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													9	23					0	0	1	0	0
DEFB135	613209	broad.mit.edu	37	8	11842021	11842021	+	Silent	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:11842021A>G	ENST00000382208.2	+	2	156	c.156A>G	c.(154-156)gaA>gaG	p.E52E		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	52					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						TAAAAAACGAACAATATCGTA	0.383000													28	51					0	0	1	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858231	27858231	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:27858231G>C	ENST00000359303.2	-	1	339	c.340C>G	c.(340-342)Cac>Gac	p.H114D		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	114					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CGCTTGGCGTGAATAGCACAG	0.542000													31	63					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12916587	12916587	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:12916587G>A	ENST00000338034.4	-	6	735	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000426905.3_Missense_Mutation_p.R166W|ELAC2_ENST00000395962.2_Missense_Mutation_p.R147W	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	166					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GAGTGGGGCCGCACAGCTACA	0.488000													13	23					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8046013	8046013	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:8046013G>A	ENST00000407627.2	-	3	359	c.230C>T	c.(229-231)gCg>gTg	p.A77V	ELAVL1_ENST00000593807.1_Missense_Mutation_p.A77V|ELAVL1_ENST00000351593.5_Missense_Mutation_p.A104V|ELAVL1_ENST00000596459.1_Missense_Mutation_p.A77V	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	77	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	p.A77V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CGTGTTGATCGCTCTCTCTGC	0.527000													22	51					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34042979	34042979	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:34042979C>T	ENST00000373381.4	-	49	7669	c.7493G>A	c.(7492-7494)cGc>cAc	p.R2498H		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2500	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCACCAGGCGGTAGCCGGC	0.642000													42	59					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111653498	111653498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:111653498C>T	ENST00000374647.5	-	28	3452	c.3145G>A	c.(3145-3147)Ggc>Agc	p.G1049S	IKBKAP_ENST00000537196.1_Missense_Mutation_p.G700S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1049					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGAGTTCTGCCGAGGCCCACC	0.403000													4	208					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227627	74227627	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:74227627G>A	ENST00000316292.9	-	7	2286	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	EEF1A1_ENST00000309268.6_Missense_Mutation_p.T432I|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.T432I	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	432						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CACCGCAACTGTCTGTCTCAT	0.403000											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	25					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054663	106054663	+	RNA	SNP	C	C	T	rs116634885	by1000genomes	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr14:106054663C>T	ENST00000390539.2	-	0	69																											AGGCATGCGACGACCACGTTC	0.632000													7	80					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202131411	202131411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:202131411C>T	ENST00000358485.4	+	2	575	c.379C>T	c.(379-381)Cga>Tga	p.R127*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R68*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R68*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R68*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R127*(1)|p.R68*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGCTCTTCCGAATTAATAG	0.453000										HNSCC(4;0.00038)			19	30					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103853300	103853300	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:103853300C>G	ENST00000296422.7	-	7	951	c.810G>C	c.(808-810)ttG>ttC	p.L270F	SLC9B1_ENST00000394789.3_Missense_Mutation_p.L270F|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	270						integral to membrane	solute:hydrogen antiporter activity										AGACTATGCTCAAGCATGTAT	0.373000													39	69					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35827605	35827605	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:35827605C>T	ENST00000237530.6	+	4	767	c.456C>T	c.(454-456)ctC>ctT	p.L152L	RPN2_ENST00000373622.5_Silent_p.L120L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	152					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGCTCGTCTCAGCAAGGAGG	0.517000													26	46					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110085927	110085927	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:110085927C>T	ENST00000527748.1	+	2	966	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	95						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GACCCTCATGCCCCTGGCCAT	0.612000													5	199					0	0	1	0	0
TCEA1	6917	broad.mit.edu	37	8	54897066	54897066	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:54897066C>G	ENST00000521604.2	-	7	938	c.535G>C	c.(535-537)Gaa>Caa	p.E179Q	TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000396401.3_Missense_Mutation_p.E158Q	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	179	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			TTCCTTATTTCTTGATATATA	0.318000			T	PLAG1	salivary adenoma								5	22					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64533419	64533419	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:64533419A>C	ENST00000377390.3	-	13	2128	c.1791T>G	c.(1789-1791)taT>taG	p.Y597*	SF1_ENST00000334944.5_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000433274.2_Nonsense_Mutation_p.Y571*|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	597	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGGGCGGGGCATACATCATGC	0.716000													5	8					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49791162	49791162	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:49791162G>A	ENST00000249601.4	-	2	366	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R24W|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R30W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	24					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGGCTCCGGCTCTGCTCC	0.632000													5	259					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208252709	208252709	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:208252709C>T	ENST00000367033.3	-	12	3239	c.2482G>A	c.(2482-2484)Ggc>Agc	p.G828S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	828					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCGCTCGCCGCTGCACCAG	0.617000													15	11					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944662	144944662	+	Silent	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:144944662G>A	ENST00000525985.1	-	2	2831	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D				P58107	EPIPL_HUMAN	epiplakin 1	920						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCGGACGCCGTCCATGAGTA	0.667000													51	30					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55146617	55146617	+	Missense_Mutation	SNP	G	G	A	rs141047712		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:55146617G>A	ENST00000257290.5	+	16	2622	c.2291G>A	c.(2290-2292)cGt>cAt	p.R764H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R524H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	764	Protein kinase.		R -> C (in dbSNP:rs34392012).		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCTATGATCGTCCAGCCTCA	0.388000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	19					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242274	87242274	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:87242274C>A	ENST00000297524.3	-	1	336	c.233G>T	c.(232-234)gGa>gTa	p.G78V	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G78V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	78						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTATTGAGCTCCACTGCATGG	0.488000													23	84					5.26018e-13	5.46406e-13	1	1	0
MOV10L1	54456	broad.mit.edu	37	22	50528923	50528923	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:50528923C>T	ENST00000540615.1	+	1	239	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000545383.1_Intron|MOV10L1_ENST00000262794.5_Intron|MOV10L1_ENST00000475190.1_Intron	NM_001164105.1	NP_001157577.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	0					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCTCCCTGTCCGCAGCGTCAT	0.612000													11	11					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:53856761T>C	ENST00000458035.1	+	4	2950	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348000													3	32					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13546139	13546139	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:13546139G>A	ENST00000295757.3	+	10	1183	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	HDAC11_ENST00000446613.2_Missense_Mutation_p.A142T|HDAC11_ENST00000522202.1_Missense_Mutation_p.A283T|HDAC11_ENST00000404040.1_Missense_Mutation_p.A234T|HDAC11_ENST00000402259.1_Missense_Mutation_p.A168T|HDAC11_ENST00000402271.1_Missense_Mutation_p.A255T|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000437379.2_Missense_Mutation_p.A306T	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CAGCGTCTCCGCACAGAACTC	0.607000													19	47					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41385106	41385106	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:41385106C>T	ENST00000373198.3	-	6	1090	c.855G>A	c.(853-855)gtG>gtA	p.V285V	PTPRT_ENST00000373201.1_Silent_p.V285V|PTPRT_ENST00000356100.2_Silent_p.V285V|PTPRT_ENST00000373184.1_Silent_p.V285V|PTPRT_ENST00000373190.1_Silent_p.V285V|PTPRT_ENST00000373187.1_Silent_p.V285V|PTPRT_ENST00000373193.3_Silent_p.V285V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	285					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACTCACCTTTCACGATCAGCT	0.572000													11	24					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52412318	52412318	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:52412318G>C	ENST00000356297.4	-	5	493	c.393C>G	c.(391-393)ttC>ttG	p.F131L	PXDNL_ENST00000543296.1_Missense_Mutation_p.F131L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	131					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTAGTTGGTTGAAATGAATAT	0.388000													68	212					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150919402	150919402	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:150919402G>A	ENST00000271640.5	+	10	1371	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.R394Q|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	394	Tudor 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCTCTACACGGCTGGAGCCC	0.468000													4	53					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53563110	53563110	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chrX:53563110C>T	ENST00000342160.3	-	79	12986	c.12529G>A	c.(12529-12531)Gag>Aag	p.E4177K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4177K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4177	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.E4067K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACCTACCTCAGTGCTGAAG	0.458000													14	7					0	0	1	0	0
USP46	64854	broad.mit.edu	37	4	53464859	53464859	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:53464859C>G	ENST00000441222.2	-	8	1118	c.934G>C	c.(934-936)Ggg>Cgg	p.G312R	USP46_ENST00000451218.2_Missense_Mutation_p.G285R|USP46_ENST00000508499.1_Missense_Mutation_p.G305R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	312					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ATATAATGCCCACGATTAGGA	0.358000													7	15					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57057739	57057739	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:57057739G>A	ENST00000436936.1	+	5	623	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	NLRC5_ENST00000308149.7_Missense_Mutation_p.R133Q|NLRC5_ENST00000262510.6_Missense_Mutation_p.R133Q|NLRC5_ENST00000539144.1_Missense_Mutation_p.R133Q			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	133					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.R133Q(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCACCCCGCCGGAAGCAGTGC	0.617000													3	9					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967400	58967400	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:58967400C>T	ENST00000391696.1	+	3	1991	c.1059C>T	c.(1057-1059)caC>caT	p.H353H	ZNF324B_ENST00000545523.1_Silent_p.H363H|ZNF324B_ENST00000336614.4_Silent_p.H363H			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAAGATCCACGCGGGTGGGC	0.662000													14	22					0	0	1	0	0
TCTN3	26123	broad.mit.edu	37	10	97440280	97440280	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:97440280C>T	ENST00000265993.8	-	13	1782	c.1539G>A	c.(1537-1539)ccG>ccA	p.P513P	TCTN3_ENST00000371217.4_Silent_p.P526P|TCTN3_ENST00000430368.1_Silent_p.P365P	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	513					apoptosis	integral to membrane		p.P513P(2)|p.P335P(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CATGAGCTTGCGGGTTGGACA	0.463000													4	208					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276532	186276532	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:186276532G>T	ENST00000445192.2	+	7	1726	c.1681G>T	c.(1681-1683)Gca>Tca	p.A561S	PRG4_ENST00000367485.4_Missense_Mutation_p.A468S|PRG4_ENST00000367486.3_Missense_Mutation_p.A518S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A520S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	561	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.637000													4	116					1	1	1	1	0
FAM86B2	653333	broad.mit.edu	37	8	12286307	12286307	+	Missense_Mutation	SNP	T	T	C	rs148161726		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:12286307T>C	ENST00000262365.4	-	6	576	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	193										endometrium(1)|kidney(2)	3						TGCTCGAGGATCCGGCTGTGA	0.602000													3	32					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611165	44611165	+	Silent	SNP	G	G	A	rs149917035		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:44611165G>A	ENST00000336976.6	+	6	1106	c.852G>A	c.(850-852)ggG>ggA	p.G284G	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	284					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCCATACGGGGGAGAAGCCAT	0.428000													73	145					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37152277	37152277	+	Silent	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:37152277T>C	ENST00000263918.4	-	2	317	c.309A>G	c.(307-309)aaA>aaG	p.K103K	STRN_ENST00000379213.2_Silent_p.K91K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	103					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ACTCCAACATTTTGATCCTCC	0.393000													5	108					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183491577	183491577	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:183491577A>G	ENST00000305135.5	+	17	2558	c.2363A>G	c.(2362-2364)aAt>aGt	p.N788S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	788					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTACGAACAATGCTAGTTAG	0.453000													26	37					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93680488	93680488	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:93680488G>C	ENST00000343253.7	+	12	2183	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	CCDC18_ENST00000401026.3_Missense_Mutation_p.E562Q|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.E361Q|CCDC18_ENST00000557479.1_Missense_Mutation_p.E680Q			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	561										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGAGCTGCTAGAGAAAGCTTC	0.353000													8	5					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101731859	101731859	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:101731859C>T	ENST00000342239.3	-	2	114	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	DNMBP_ENST00000324109.4_Missense_Mutation_p.R8Q			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	8	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAAAATGGCTCGAACCACTGA	0.403000													39	69					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664240	22664240	+	RNA	SNP	T	T	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:22664240T>G	ENST00000426066.1	+	0	763					NR_027293.1																						GATAAGCTGCTGATGAGCGGT	0.532000													4	70					0	0	1	0	0
NHLH1	4807	broad.mit.edu	37	1	160340795	160340795	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:160340795A>T	ENST00000302101.5	+	2	720	c.274A>T	c.(274-276)Aac>Tac	p.N92Y		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	92	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAGCCTTCAACCTGGCCTT	0.667000													24	44					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29105701	29105701	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:29105701C>A	ENST00000409850.1	-	14	1547	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	CPVL_ENST00000396276.3_Missense_Mutation_p.D301Y|CPVL_ENST00000265394.5_Missense_Mutation_p.D301Y			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	301					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TAAGAAGGATCACTTGTTAAG	0.343000													23	70					2.41591e-17	2.52916e-17	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167284441	167284441	+	Missense_Mutation	SNP	C	C	T	rs34324751		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:167284441C>T	ENST00000409855.1	-	17	2836	c.2710G>A	c.(2710-2712)Gga>Aga	p.G904R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	904					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGTGAAGATCCGCGTCTGCAA	0.383000													14	22					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481656	140481656	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:140481656G>A	ENST00000231130.2	+	1	1423	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		475	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTGTCAGCGCCACAGACAG	0.637000													166	80					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933502	70933502	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:70933502C>T	ENST00000264436.3	-	3	483	c.39G>A	c.(37-39)ccG>ccA	p.P13P	ADD2_ENST00000430656.1_Silent_p.P29P|ADD2_ENST00000355733.3_Silent_p.P13P|ADD2_ENST00000407644.2_Silent_p.P13P|ADD2_ENST00000413157.2_Silent_p.P13P	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	13					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTGCGGGGGCGGCGGCGAGG	0.642000													35	59					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216964799	216964799	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:216964799C>T	ENST00000454545.1	+	4	754	c.428C>T	c.(427-429)aCg>aTg	p.T143M	TMEM169_ENST00000406027.2_Missense_Mutation_p.T143M|TMEM169_ENST00000295658.4_Missense_Mutation_p.T143M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T143M	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	143						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAAACGACGCCTGAAGGA	0.522000													24	49					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30659561	30659561	+	Silent	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:30659561G>A	ENST00000534862.1	+	3	462	c.99G>A	c.(97-99)ccG>ccA	p.P33P	HCK_ENST00000518730.1_Silent_p.P32P|HCK_ENST00000375862.2_Silent_p.P53P|HCK_ENST00000375852.2_Silent_p.P53P|HCK_ENST00000520553.1_Silent_p.P32P|HCK_ENST00000538448.1_Silent_p.P32P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	53					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTACGTGCCGGATCCCACAT	0.577000													21	32					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639181	3639181	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:3639181C>T	ENST00000294008.3	-	12	5098	c.4458G>A	c.(4456-4458)agG>agA	p.R1486R		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1486	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTTGCAATTTCCTCTGGGTAG	0.642000								Direct reversal of damage					120	208					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29651716	29651716	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:29651716C>T	ENST00000356870.3	+	30	4254	c.4144C>T	c.(4144-4146)Cgc>Tgc	p.R1382C	PTPRU_ENST00000460170.2_Missense_Mutation_p.R1380C|PTPRU_ENST00000345512.3_Missense_Mutation_p.R1386C|PTPRU_ENST00000428026.2_Missense_Mutation_p.R1373C|PTPRU_ENST00000323874.8_Missense_Mutation_p.R1382C|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1376C	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1386	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGGGGAGGACGCAGCGGCAC	0.592000													27	68					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875503	33875503	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:33875503G>A	ENST00000374408.3	-	4	1175	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	360										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGGTAGGAGGAGCGACCCAT	0.652000													19	23					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45269630	45269630	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:45269630C>T	ENST00000429094.2	-	1	527	c.23G>A	c.(22-24)aGa>aAa	p.R8K	NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000548826.1_Missense_Mutation_p.R8K|NELL2_ENST00000452445.2_Missense_Mutation_p.R8K|NELL2_ENST00000333837.4_Missense_Mutation_p.R31K|NELL2_ENST00000437801.2_Missense_Mutation_p.R58K|NELL2_ENST00000551601.1_5'UTR	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	8					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACAGAATGTTCTCAGTAAGAC	0.542000													53	77					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46320369	46320369	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr21:46320369C>T	ENST00000397850.2	-	8	1215	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	ITGB2_ENST00000302347.5_Missense_Mutation_p.V255I|ITGB2_ENST00000397854.3_Missense_Mutation_p.V198I|ITGB2_ENST00000397852.1_Missense_Mutation_p.V255I|ITGB2_ENST00000397857.1_Missense_Mutation_p.V255I|ITGB2_ENST00000355153.4_Missense_Mutation_p.V255I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	255	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCCGCGTGACGTTGCGCCAG	0.647000													16	53					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23069663	23069663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:23069663C>T	ENST00000221132.3	-	2	433	c.369G>A	c.(367-369)tgG>tgA	p.W123*		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	123					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GGCTATGTTCCCATTGCTGTG	0.458000													25	74					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16723975	16723975	+	RNA	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:16723975T>C	ENST00000417510.1	-	0	691																											GCAAACTCGCTTGGTGCGGAA	0.537000													7	45					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54723043	54723043	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:54723043A>G	ENST00000391750.1	-	9	1517	c.1381T>C	c.(1381-1383)Ttc>Ctc	p.F461L	LILRA6_ENST00000440558.2_Missense_Mutation_p.F461L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.F461L|LILRB3_ENST00000245620.9_Missense_Mutation_p.F461L|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.F461L|LILRB3_ENST00000407860.2_Missense_Mutation_p.F478L|LILRA6_ENST00000270464.5_Missense_Mutation_p.F461L|LILRB3_ENST00000346401.6_Missense_Mutation_p.F473L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	461					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		aggaggaggaagaggaggagg	0.597000													3	31					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39866669	39866669	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:39866669A>G	ENST00000538976.1	+	22	2817	c.2635A>G	c.(2635-2637)Aag>Gag	p.K879E	DAAM2_ENST00000274867.4_Missense_Mutation_p.K879E|DAAM2_ENST00000398904.2_Missense_Mutation_p.K879E|RP11-61I13.3_ENST00000437947.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	879	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGAACTGGAGAAGGAGGTGGG	0.587000													9	14					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770258	31770258	+	Silent	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:31770258G>A	ENST00000240587.4	-	2	768	c.441C>T	c.(439-441)aaC>aaT	p.N147N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	147	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgccgttgTTCTTCT	0.602000													3	36					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30131821	30131821	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:30131821C>T	ENST00000376694.4	+	1	829	c.360C>T	c.(358-360)gaC>gaT	p.D120D	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	120					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGTTCCTGGACGAGGCCATTC	0.582000													29	33					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144527	33144527	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:33144527C>T	ENST00000341947.2	-	26	2313	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	COL11A2_ENST00000395197.1_Missense_Mutation_p.E636K|COL11A2_ENST00000374708.4_Missense_Mutation_p.E610K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E670K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E615K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E589K|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.E675K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E649K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	696	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGGACCTTCCTTCCCTGGG	0.537000													13	18					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19087116	19087116	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:19087116C>G	ENST00000380502.3	-	6	1090	c.623G>C	c.(622-624)tGt>tCt	p.C208S	HAUS6_ENST00000380496.1_Missense_Mutation_p.C72S	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	208					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAATCCTATACATTCAGATCT	0.338000													15	65					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145661384	145661384	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:145661384G>A	ENST00000409379.3	-	17	2461	c.2432C>T	c.(2431-2433)cCg>cTg	p.P811L	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	811					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GTGGCCCCGCGGTGGGCCAGG	0.721000													22	9					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral to membrane		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736000													6	11					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559722	46559722	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr13:46559722C>T	ENST00000242848.4	-	10	1778	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	477	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCTTGAGTCCCGCATGTCTCT	0.527000													5	239					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156608	106156608	+	Silent	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:106156608G>A	ENST00000540549.1	+	3	2369	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	TET2_ENST00000380013.4_Silent_p.E503E|TET2_ENST00000394764.1_Silent_p.E503E|TET2_ENST00000305737.2_Silent_p.E503E|TET2_ENST00000413648.2_Silent_p.E503E|TET2_ENST00000545826.1_Silent_p.E503E|TET2_ENST00000513237.1_Silent_p.E524E			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	503					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGTGTTCTGAGAAAACAAGAC	0.453000			"""Mis N, F"""		MDS								22	59					0	0	1	0	0
NQO1	1728	broad.mit.edu	37	16	69746949	69746949	+	Silent	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:69746949G>A	ENST00000320623.5	-	5	1012	c.501C>T	c.(499-501)gtC>gtT	p.V167V	NQO1_ENST00000379047.3_Intron|NQO1_ENST00000379046.2_Silent_p.V129V|NQO1_ENST00000564043.1_Silent_p.V146V|NQO1_ENST00000561500.1_Silent_p.V129V|NQO1_ENST00000439109.2_Intron	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	167					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GCCAGAGAATGACATTCATGT	0.463000													92	175					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9449252	9449252	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:9449252A>G	ENST00000378501.2	+	32	3262	c.3247A>G	c.(3247-3249)Att>Gtt	p.I1083V	PLCB4_ENST00000278655.4_Missense_Mutation_p.I1083V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.I1095V|PLCB4_ENST00000414679.2_Missense_Mutation_p.I1095V|PLCB4_ENST00000334005.3_Missense_Mutation_p.I1083V|PLCB4_ENST00000378493.1_Missense_Mutation_p.I1083V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1083					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCAGGCTAAGATTTCTATGGA	0.413000													4	163					0	0	1	0	0
CASP9	842	broad.mit.edu	37	1	15844869	15844869	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:15844869G>A	ENST00000546424.1	-	2	398	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	CASP9_ENST00000333868.5_Missense_Mutation_p.R52W|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000348549.5_Missense_Mutation_p.R52W|CASP9_ENST00000469637.1_5'UTR			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	52	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GCCTGATCCCGCCGAGATCCA	0.522000													4	50					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214470	7214470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr10:7214470G>A	ENST00000361972.4	-	18	2228	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A713V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	713					regulation of transcription, DNA-dependent	nucleus		p.A713V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCCCGAGCCCGCGGTGAAGTC	0.637000													20	27					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521784	39521784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:39521784G>A	ENST00000251646.3	-	4	659	c.610C>T	c.(610-612)Cag>Tag	p.Q204*		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	204	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCTCCAAGCTGGCAGCGCAAG	0.507000													22	34					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227628	74227628	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:74227628T>A	ENST00000316292.9	-	7	2285	c.1294A>T	c.(1294-1296)Aca>Tca	p.T432S	EEF1A1_ENST00000309268.6_Missense_Mutation_p.T432S|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.T432S	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	432						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACCGCAACTGTCTGTCTCATA	0.403000											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	25					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125565869	125565869	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:125565869C>G	ENST00000518547.1	-	14	2105	c.1632G>C	c.(1630-1632)aaG>aaC	p.K544N	MTSS1_ENST00000524090.1_Missense_Mutation_p.K434N|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Missense_Mutation_p.K262N|MTSS1_ENST00000395508.2_Missense_Mutation_p.K318N|MTSS1_ENST00000378017.3_Missense_Mutation_p.K519N|MTSS1_ENST00000354184.4_Missense_Mutation_p.K262N|MTSS1_ENST00000325064.5_Missense_Mutation_p.K548N|NDUFB9_ENST00000522532.1_Intron	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	544					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGGTGGAGGACTTGTCGAACT	0.493000													55	33					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47546022	47546022	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr21:47546022G>A	ENST00000300527.4	+	26	2397	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	COL6A2_ENST00000357838.4_Missense_Mutation_p.E765K|COL6A2_ENST00000409416.1_Missense_Mutation_p.E765K|COL6A2_ENST00000310645.5_Missense_Mutation_p.E765K|COL6A2_ENST00000397763.1_Missense_Mutation_p.E765K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	765	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CATGTTCCACGAGAAGCACGA	0.617000													139	239					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19261525	19261525	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:19261525T>C	ENST00000602424.2	-	4	746	c.20A>G	c.(19-21)cAg>cGg	p.Q7R	MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.Q24R|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.Q7R|MEF2B_ENST00000409224.1_Missense_Mutation_p.Q7R|MEF2B_ENST00000424583.2_Missense_Mutation_p.Q7R|MEF2B_ENST00000410050.1_Missense_Mutation_p.Q7R|MEF2B_ENST00000409447.2_Missense_Mutation_p.Q7R|MEF2B_ENST00000162023.5_Missense_Mutation_p.Q7R	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GCGGGAGATCTGGATTTTTTT	0.562000													19	37					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161651	43161651	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr21:43161651T>A	ENST00000352483.2	-	9	1910	c.1846A>T	c.(1846-1848)Aag>Tag	p.K616*	RIPK4_ENST00000542057.1_Nonsense_Mutation_p.K505*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.K568*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.K505*			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	568						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGGCATCCTTGCCCTGCAGG	0.677000													29	48					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	599054	599054	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:599054C>T	ENST00000219611.2	+	5	1874	c.1511C>T	c.(1510-1512)gCg>gTg	p.A504V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GGCTTCCCCGCGGGTGACAGC	0.642000													53	137					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	A	rs104894228		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:534286C>A	ENST00000417302.1	-	2	224	c.37G>T	c.(37-39)Ggt>Tgt	p.G13C	HRAS_ENST00000397594.1_Missense_Mutation_p.G13C|HRAS_ENST00000397596.2_Missense_Mutation_p.G13C|HRAS_ENST00000451590.1_Missense_Mutation_p.G13C|HRAS_ENST00000311189.7_Missense_Mutation_p.G13C|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			36	13					6.90743e-12	7.11996e-12	1	1	0
ERAP1	51752	broad.mit.edu	37	5	96124350	96124350	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:96124350C>T	ENST00000296754.3	-	11	1820	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	ERAP1_ENST00000443439.2_Missense_Mutation_p.M521I	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	521					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TCCAAGTGTTCATCATGGTTT	0.468000													34	14					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179895	65179895	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr18:65179895C>A	ENST00000310045.7	-	2	3454	c.1981G>T	c.(1981-1983)Gca>Tca	p.A661S	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	651						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCTTGCTCTGCTTCCTGTATA	0.383000													29	42					1.13719e-10	1.16323e-10	1	1	0
ERCC6L	54821	broad.mit.edu	37	X	71427611	71427611	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chrX:71427611T>C	ENST00000373657.1	-	3	1239	c.637A>G	c.(637-639)Aaa>Gaa	p.K213E	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.K336E			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	336	Helicase ATP-binding.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTTGACTTTTTCTTCTGTACG	0.368000													82	32					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72754954	72754954	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:72754954G>A	ENST00000325509.4	-	2	852	c.563C>T	c.(562-564)cCg>cTg	p.P188L	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	188					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P188L(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GTCAGAGTCCGGTCTTCCCGA	0.463000													8	853					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41556727	41556727	+	Splice_Site	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:41556727G>A	ENST00000263253.7	+	20	4890		c.e20+1			NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)|p.?(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCCTCAAACGTAAGTAACTG	0.408000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				33	9					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64990058	64990058	+	RNA	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:64990058G>A	ENST00000525437.1	+	0	956							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GGGAAAGGCTGACCAAGGAGG	0.547000													18	45					0	0	1	0	0
SPATA6L	55064	broad.mit.edu	37	9	4604233	4604233	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:4604233T>A	ENST00000454239.2	-	12	1371	c.1126A>T	c.(1126-1128)Aga>Tga	p.R376*	SPATA6L_ENST00000381895.5_Nonsense_Mutation_p.R253*|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Nonsense_Mutation_p.R318*			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	318																	TAGCTTGGTCTTTCAATGATA	0.343000													26	61					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120329912	120329912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr11:120329912C>T	ENST00000397843.2	+	26	2576	c.2410C>T	c.(2410-2412)Cga>Tga	p.R804*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.R785*|AP000758.1_ENST00000595283.1_Missense_Mutation_p.E46K|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.R701*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	804	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGCTCATGTTCGAACACTGAA	0.388000			T	MLL	AML								4	87					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39919477	39919477	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:39919477T>G	ENST00000393931.3	-	8	1373	c.1255A>C	c.(1255-1257)Aca>Cca	p.T419P	JUP_ENST00000310706.5_Missense_Mutation_p.T419P|JUP_ENST00000393930.1_Missense_Mutation_p.T419P|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	419					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGTTGCATGTCAGGTTGGAG	0.562000													32	42					0	0	1	0	0
RCN2	5955	broad.mit.edu	37	15	77241521	77241521	+	Silent	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr15:77241521C>A	ENST00000394885.3	+	7	1135	c.912C>A	c.(910-912)ggC>ggA	p.G304G	RCN2_ENST00000320963.5_Silent_p.G322G|RCN2_ENST00000394883.3_Silent_p.G203G	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	304						endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CAGATTATGGCAGACAGCTCC	0.398000													41	93					1.8453e-21	1.94701e-21	1	1	0
HLA-B	3106	broad.mit.edu	37	6	31323247	31323247	+	Nonsense_Mutation	SNP	G	G	A	rs72558120		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:31323247G>A	ENST00000412585.2	-	4	770	c.742C>T	c.(742-744)Caa>Taa	p.Q248*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCCTGAGTTTGGTCCTCGCCA	0.592000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				50	125					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36865454	36865454	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr17:36865454G>A	ENST00000325718.7	+	5	474	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	MLLT6_ENST00000378137.5_Missense_Mutation_p.R128Q	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	128					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GAGCAGGGCCGGGAGAGCAAG	0.637000			T	MLL	AL								73	197					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50217877	50217877	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:50217877G>A	ENST00000216267.8	-	1	575	c.89C>T	c.(88-90)aCg>aTg	p.T30M	BRD1_ENST00000457780.2_Missense_Mutation_p.T30M|BRD1_ENST00000404760.1_Missense_Mutation_p.T30M|BRD1_ENST00000404034.1_Missense_Mutation_p.T30M	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	30					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTAGGTCAGCGTTTCTCGCGT	0.478000													113	39					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111462470	111462470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:111462470G>A	ENST00000428084.1	-	27	3150	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C	DOCK4_ENST00000437633.1_Missense_Mutation_p.R960C			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	960					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.R948C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATCTCCGGGCGTATCAATATT	0.368000													6	13					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645897	215645897	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr2:215645897T>A	ENST00000260947.4	-	4	835	c.701A>T	c.(700-702)gAa>gTa	p.E234V	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.E90V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	234					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTTAGATTCCTCTTTGGA	0.373000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				24	49					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664239	22664239	+	RNA	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr22:22664239C>T	ENST00000426066.1	+	0	762					NR_027293.1																						GGATAAGCTGCTGATGAGCGG	0.532000													4	70					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892176	74892176	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:74892176A>G	ENST00000241436.4	+	13	1830	c.1658A>G	c.(1657-1659)gAt>gGt	p.D553G	POLK_ENST00000380481.3_Missense_Mutation_p.D463G|POLK_ENST00000508526.1_Missense_Mutation_p.D355G|POLK_ENST00000352007.5_Missense_Mutation_p.D355G|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	553					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ACTGACAAAGATAAGTTTGTA	0.373000								DNA polymerases (catalytic subunits)					20	30					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21875158	21875158	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr14:21875158C>T	ENST00000399982.2	-	13	2828	c.2764G>A	c.(2764-2766)Gct>Act	p.A922T	CHD8_ENST00000430710.3_Missense_Mutation_p.A643T|CHD8_ENST00000557364.1_Missense_Mutation_p.A922T|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	922	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGATCAGAGCGTCAAACTTG	0.413000													5	4					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150938616	150938616	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:150938616C>A	ENST00000392811.2	-	9	1336	c.862G>T	c.(862-864)Gac>Tac	p.D288Y	SMARCD3_ENST00000356800.2_Missense_Mutation_p.D288Y|SMARCD3_ENST00000262188.8_Missense_Mutation_p.D301Y	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	301	SWIB.				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTCCTTGTCATGGGAGTCC	0.587000													9	10					4.68919e-08	4.76024e-08	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21940720	21940720	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr7:21940720G>A	ENST00000328843.6	+	83	13451	c.13420G>A	c.(13420-13422)Gtg>Atg	p.V4474M	DNAH11_ENST00000409508.3_Missense_Mutation_p.V4467M|CDCA7L_ENST00000406877.3_3'UTR|CDCA7L_ENST00000356195.5_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4474					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCCACCCCCGTGGACAGACA	0.557000									Kartagener syndrome				38	87					0	0	1	0	0
ZNF385A	25946	broad.mit.edu	37	12	54767763	54767763	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:54767763G>A	ENST00000546970.1	-	5	644	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Missense_Mutation_p.R119C|ZNF385A_ENST00000551109.1_Missense_Mutation_p.R119C|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Missense_Mutation_p.R139C|ZNF385A_ENST00000338010.5_Missense_Mutation_p.R139C|ZNF385A_ENST00000394313.2_Missense_Mutation_p.R119C			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						ACACCTGGACGGGGTGCTACA	0.567000													25	53					0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233280	56233280	+	RNA	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr14:56233280C>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CAAGGTCGTGCGTCTGAAGCC	0.572000													6	16					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135392430	135392430	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:135392430C>T	ENST00000442011.2	+	12	1785	c.1624C>T	c.(1624-1626)Ccc>Tcc	p.P542S	TGFBI_ENST00000305126.8_Missense_Mutation_p.P542S	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	542	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTCTTTGCTCCCACAAATGA	0.498000													44	20					0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56481804	56481804	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:56481804C>G	ENST00000300291.5	-	2	386	c.214G>C	c.(214-216)Gat>Cat	p.D72H		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	72	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CCAATTTTATCAAATTCTTCC	0.463000													27	46					0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2934445	2934445	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr4:2934445C>T	ENST00000329687.4	-	4	947	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	MFSD10_ENST00000507555.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000355443.4_Missense_Mutation_p.R138Q|MFSD10_ENST00000514800.1_Missense_Mutation_p.R138Q|MFSD10_ENST00000508221.1_Missense_Mutation_p.R138Q	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	138					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCAAAGCTCCGAGAGGTGGC	0.652000													30	56					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101365182	101365182	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:101365182C>T	ENST00000392979.3	+	5	811	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.F185F|ANO4_ENST00000538618.1_Silent_p.F351F	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	185						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAATGCCTTTCAGGTAGGTGG	0.378000										HNSCC(74;0.22)			21	42					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72667102	72667102	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr12:72667102C>T	ENST00000261180.4	+	1	640	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	182					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTACGTAGTGCTGCACGCTTC	0.617000													29	39					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													5	134					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	63					0	0	1	0	0
RRAS	6237	broad.mit.edu	37	19	50138866	50138866	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr19:50138866C>G	ENST00000246792.3	-	6	726	c.624G>C	c.(622-624)aaG>aaC	p.K208N		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	208					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CCCCGCCCTTCTTCCTGGGGG	0.612000													49	61					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115419433	115419433	+	Splice_Site	DEL	T	T	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:115419433delT	ENST00000369522.3	+	11	1041		c.e11+2		SYCP1_ENST00000369518.1_Splice_Site	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAGCAGGTTTTTTAAAAA	0.229													2	4	---	---	---	---					
LOC101929147	101929147	broad.mit.edu	37	1	119801692	119801692	+	RNA	DEL	T	T	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr1:119801692delT	ENST00000418015.1	+	0	430				snoU13_ENST00000459311.1_RNA																							agtgtgatgattggctgttca	0.428													2	4	---	---	---	---					
GRM2	2912	broad.mit.edu	37	3	51749371	51749372	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr3:51749371_51749372delTA	ENST00000395052.3	+	4	1816_1817	c.1582_1583delTA	c.(1582-1584)tfs	p.Y528fs	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	528					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GTGCCAGCCCTATGAGTACCGA	0.609													20	53	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													9	81	---	---	---	---					
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctg>c	p.LPV14del	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	3	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													8	245	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			5	4	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													9	30	---	---	---	---					
NLRC5	84166	broad.mit.edu	37	16	57095443	57095443	+	Splice_Site	DEL	C	C	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:57095443delC	ENST00000436936.1	+	31	4295	c.4070_splice	c.e31+1	p.T1357_splice	NLRC5_ENST00000539144.1_Splice_Site_p.T1328_splice|NLRC5_ENST00000262510.6_Splice_Site_p.T1357_splice|NLRC5_ENST00000308149.7_Splice_Site_p.T1328_splice			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1357					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACGGAGCTCACGTGAGTGACC	0.647													30	43	---	---	---	---					
NLRC5	84166	broad.mit.edu	37	16	57111290	57111293	+	Splice_Site	DEL	GAGT	GAGT	-			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr16:57111290_57111293delGAGT	ENST00000262510.6	+	41	5143_5144	c.4919_splice	c.e41+1	p.1640_splice	NLRC5_ENST00000539144.1_Splice_Site_p.1611_splice|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Splice_Site_p.1611_splice	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1640					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGGAAGATAGAGTGAGTAGCCAG	0.583													19	20	---	---	---	---					
FRG1BP	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-CN-A642-01A-12D-A30E-08	TCGA-CN-A642-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e0984d6-82d9-4629-9378-9279487bde36	39608fa6-f6d8-4998-815c-ace0fbfb4206	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-144)atafs	p.I48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342													7	122	---	---	---	---