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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
ARCN1	372	broad.mit.edu	37	11	118451977	118452014	+	Frame_Shift_Del	DEL	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	-	rs142869705	by1000genomes	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	-	-	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:118451977_118452014delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	ENST00000359415.4	+	3	308_345	c.143_180delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	c.(142-180)gcggtctgcacaaaagcaggaaaggctattgtttctcgafs	p.AVCTKAGKAIVSR48fs	ARCN1_ENST00000392859.3_Intron|ARCN1_ENST00000264028.4_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs|ARCN1_ENST00000534182.2_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs			P48444	COPD_HUMAN	archain 1	7					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		p.A15T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTGGCAGCAGCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGACAGTTTGTGG	0.42		NA											False	1	True	11:118451977	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:2062350_2062351insTGG	ENST00000540622.1	-	4	435_436	c.377_378insCCA	c.(376-378)cag>caCCAg	p.125_126insH	DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000541700.1_5'UTR			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55		NA											False	2	True	12:2062350	0
SKA3	221150	broad.mit.edu	37	13	21734128	21734133	+	Splice_Site	DEL	TAAAAG	TAAAAG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TAAAAG	TAAAAG	-	-	TAAAAG	TAAAAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:21734128_21734133delTAAAAG	ENST00000400018.3	-	6	899		c.e6-2		SKA3_ENST00000314759.5_Splice_Site	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	NA					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTCGGCATCTAAAAGACACATAAAA	0.32		NA											False	1	True	13:21734128	0
FLG	2312	broad.mit.edu	37	1	152276974	152276985	+	In_Frame_Del	DEL	TGGGACCCTGAG	TGGGACCCTGAG	-	rs140294281	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TGGGACCCTGAG	TGGGACCCTGAG	-	-	TGGGACCCTGAG	TGGGACCCTGAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152276974_152276985delTGGGACCCTGAG	ENST00000368799.1	-	3	10412_10423	c.10377_10388delCTCAGGGTCCCA	c.(10375-10389)cactcagggtcccat>cat	p.3459_3463HSGSH>H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3459	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3461W(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)			GTGGCTGTGATGGGACCCTGAGTGTCCAGACC	0.571		NA							Ichthyosis				False	1	True	1:152276974	0
TBL3	10607	broad.mit.edu	37	16	2028197	2028202	+	In_Frame_Del	DEL	CTCCGA	CTCCGA	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CTCCGA	CTCCGA	-	-	CTCCGA	CTCCGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2028197_2028202delCTCCGA	ENST00000568546.1	+	20	2238_2243	c.2110_2115delCTCCGA	c.(2110-2115)ctccgadel	p.LR706del		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	706					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGCCACCATGCTCCGACTGCGGCGCG	0.655		NA											False	1	False	16:2028197	0
E4F1	1877	broad.mit.edu	37	16	2284179	2284196	+	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-	rs137969975		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-	-	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	ENST00000301727.4	+	10	1431_1448	c.1383_1400delGCCGTTCGCCTGCGCGCA	c.(1381-1401)aggccgttcgcctgcgcgcag>agg	p.PFACAQ462del	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	462	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAGGGCCGAGGCCGTTCGCCTGCGCGCAGTGTGGCAAG	0.693		NA											False	1	False	16:2284179	0
SNX29	92017	broad.mit.edu	37	16	12450122	12450123	+	In_Frame_Ins	INS	-	-	TTAGCAGGGTGTGGTGGC			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:12450122_12450123insTTAGCAGGGTGTGGTGGC	ENST00000566228.1	+	16	1954_1955	c.1885_1886insTTAGCAGGGTGTGGTGGC	c.(1885-1887)gat>gTTAGCAGGGTGTGGTGGCat	p.629_629D>VSRVWWH	SNX29_ENST00000323433.4_In_Frame_Ins_p.244_244D>VSRVWWH|SNX29_ENST00000306030.3_In_Frame_Ins_p.244_244D>VSRVWWH	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	244					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GGAGCTCATCGATCTCCGGGGA	0.589		NA											False	0	False	16:12450122	0
CCDC9	26093	broad.mit.edu	37	19	47774666	47774668	+	In_Frame_Del	DEL	GAG	GAG	-	rs79550409		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:47774666_47774668delGAG	ENST00000221922.6	+	12	1549_1551	c.1327_1329delGAG	c.(1327-1329)gagdel	p.E445del		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	445	Glu-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		agaaggtgatgaggaggaACCAG	0.606		NA											False	2	False	19:47774666	0
KCNA7	3743	broad.mit.edu	37	19	49573363	49573365	+	In_Frame_Del	DEL	GGA	GGA	-	rs79563011		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:49573363_49573365delGGA	ENST00000221444.1	-	2	1681_1683	c.1326_1328delTCC	c.(1324-1329)cctcca>cca	p.442_443PP>P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	442						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TGCCCAGAGTGGAGGTGGTAGCT	0.631		NA											False	1	False	19:49573363	0
RASSF2	9770	broad.mit.edu	37	20	4770321	4770339	+	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-	-	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	ENST00000379400.3	-	8	737_755	c.542_560delCCGTGTTCACACCAGCCTA	c.(541-561)tccgtgttcacaccagcctatfs	p.SVFTPAY181fs	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	181	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GACAGAGCCATAGGCTGGTGTGAACACGGATGTCTGTCA	0.539		NA											False	1	False	20:4770321	0
RFPL1	5988	broad.mit.edu	37	22	29837567	29837569	+	In_Frame_Del	DEL	TCC	TCC	-	rs71324764		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:29837567_29837569delTCC	ENST00000354373.2	+	2	619_621	c.410_412delTCC	c.(409-414)ttcctc>ttc	p.L139del	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	139	B30.2/SPRY.		Missing (in RFPL1S).				zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GCCAACAACTTCCTCCTCATTTC	0.502		NA											False	2	False	22:29837567	0
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616		NA											False	2	True	X:107979510	0
DOCK11	139818	broad.mit.edu	37	X	117742086	117742096	+	Frame_Shift_Del	DEL	TCTAAGATCAT	TCTAAGATCAT	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TCTAAGATCAT	TCTAAGATCAT	-	-	TCTAAGATCAT	TCTAAGATCAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:117742086_117742096delTCTAAGATCAT	ENST00000276204.6	+	25	2807_2817	c.2733_2743delTCTAAGATCAT	c.(2731-2745)tatctaagatcattcfs	p.LRSF912fs	DOCK11_ENST00000276202.7_Frame_Shift_Del_p.LRSF912fs			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	912					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGATAGTTATCTAAGATCATTCATAAAGGT	0.313		NA											False	1	False	X:117742086	0
SCN9A	6335	broad.mit.edu	37	2	167055876	167055877	+	In_Frame_Ins	INS	-	-	GAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:167055876_167055877insGAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG	ENST00000409672.1	-	27	5585_5586	c.5239_5240insCTCTGCCGAAGAGGATGACCATCTCCAACAGAAGAATTC	c.(5239-5241)gtc>gCTCTGCCGAAGAGGATGACCATCTCCAACAGAAGAATTCtc	p.1747_1747V>ALPKRMTISNRRIL	SCN9A_ENST00000303354.6_In_Frame_Ins_p.1759_1759V>ALPKRMTISNRRIL|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_In_Frame_Ins_p.1758_1758V>ALPKRMTISNRRIL|SCN9A_ENST00000375387.4_In_Frame_Ins_p.1759_1759V>ALPKRMTISNRRIL	NM_002977.3	NP_002968.1	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1758						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCCAGTATGACTGCAATGTAC	0.401		NA											False	0	False	2:167055876	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
CD86	942	broad.mit.edu	37	3	121822373	121822417	+	In_Frame_Del	DEL	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	-	rs112508906		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	-	-	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:121822373_121822417delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	ENST00000330540.2	+	3	195_239	c.79_123delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	c.(79-123)aagattcaagcttatttcaatgagactgcagacctgccatgccaadel	p.KIQAYFNETADLPCQ27del	CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_In_Frame_Del_p.KIQAYFNETADLPCQ21del|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	27				K -> E (in Ref. 8; AAA86473).	interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.E34D(1)|p.I28T(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TGCTCCTCTGAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAATTTGCAAACT	0.408		NA											False	1	False	3:121822373	0
ATR	545	broad.mit.edu	37	3	142242967	142243004	+	Frame_Shift_Del	DEL	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-	rs56026468	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-	-	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	ENST00000350721.4	-	22	4104_4141	c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	c.(3982-4020)gtagaacctattatctcacagttggtgacagtgcttttgfs	p.VEPIISQLVTVLL1328fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.VEPIISQLVTVLL1264fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1328					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGCAACCTTTCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTACTGTTTCACT	0.382		NA						Other conserved DNA damage response genes					False	1	False	3:142242967	0
PDZD2	23037	broad.mit.edu	37	5	32089602	32089631	+	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-	-	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENST00000438447.1	+	20	6436_6465	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	c.(6046-6078)acccctaaatctcctaagtgtagagcagagggc>acc	p.PKSPKCRAEG2017del	PDZD2_ENST00000282493.3_In_Frame_Del_p.PKSPKCRAEG2017del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2017					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.C2022Y(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCAACCACCCCTAAATCTCCTAAGTGTAGAGCAGAGGGCAGGGCGCCC	0.635		NA											False	1	False	5:32089602	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
GPR6	0	broad.mit.edu	37	6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712		NA											False	1	True	6:110300376	0
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs10592950		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)caadel	p.Q95del	TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567		NA											False	1	True	6:170871038	0
KCNH2	3757	broad.mit.edu	37	7	150645966	150645967	+	Frame_Shift_Ins	INS	-	-	CCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:150645966_150645967insCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC	ENST00000262186.5	-	10	2970_2971	c.2569_2570insGCTGGACATGTACCCTGAGTTCTCCGACCACTTCTGGTCCAGCCTGG	c.(2569-2571)gagfs	p.E857fs	KCNH2_ENST00000330883.4_Frame_Shift_Ins_p.E517fs|KCNH2_ENST00000392968.2_Frame_Shift_Ins_p.E761fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	857					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GAAGGTGATCTCCAGGCTGGAC	0.579		NA											False	0	False	7:150645966	0
KMT2C	58508	broad.mit.edu	37	7	151845337	151845338	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:151845337_151845338insA	ENST00000262189.6	-	52	13892_13893	c.13674_13675insT	c.(13672-13677)attggtfs	p.G4559fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G4616fs	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						AGCAGCTGACCAATTGTGTGGA	0.535		NA											False	2	False	7:151845337	0
RP1L1	94137	broad.mit.edu	37	8	10466004	10466024	+	In_Frame_Del	DEL	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC	-	-	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:10466004_10466024delCTGGGCCTCCCCTTCAGCCTC	ENST00000382483.3	-	4	5807_5827	c.5584_5604delGAGGCTGAAGGGGAGGCCCAG	c.(5584-5604)gaggctgaaggggaggcccagdel	p.EAEGEAQ1862del		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1862					intracellular signal transduction			p.E1862E(1)|p.A1863D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCCCCTTCAGCCTCCTGGGCATCC	0.633		NA											False	1	True	8:10466004	0
IDS	3423	broad.mit.edu	37	X	148579704	148579704	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:148579704C>A	ENST00000340855.6	-	5	851	c.642G>T	c.(640-642)acG>acT	p.T214T	IDS_ENST00000370441.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000422081.2_Silent_p.T3T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	214						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACTGGCTGACGTTTTCATCT	0.532		NA											False	0	False	X:148579704	0
APOL5	80831	broad.mit.edu	37	22	36124922	36124922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:36124922G>A	ENST00000249044.2	+	4	1279	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	427					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGGGAGACAGGCCCCGGGAAG	0.612		NA											False	0	True	22:36124922	0
TIMM50	92609	broad.mit.edu	37	19	39980444	39980444	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39980444G>A	ENST00000314349.4	+	11	1488	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H|TIMM50_ENST00000607714.1_Missense_Mutation_p.R349H	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	349					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	p.R452H(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGTGGCCTCGCTCCAAACAG	0.617		NA											False	0	False	19:39980444	0
KIAA1524	57650	broad.mit.edu	37	3	108270112	108270112	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:108270112C>G	ENST00000295746.8	-	21	2678	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	868						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCAAGGACTCTTTCTCTTCC	0.418		NA											False	0	True	3:108270112	0
FAT4	79633	broad.mit.edu	37	4	126371342	126371342	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:126371342C>G	ENST00000394329.3	+	9	9184	c.9171C>G	c.(9169-9171)atC>atG	p.I3057M	FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3057	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTTTTTTATCACAGTCACTG	0.398		NA											False	0	False	4:126371342	0
MROH9	80133	broad.mit.edu	37	1	170967515	170967515	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967515G>T	ENST00000367758.3	+	15	1795	c.1696G>T	c.(1696-1698)Ggt>Tgt	p.G566C	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9	NA											NA						TCTGAATGTTGGTTCTTACCA	0.403		NA											False	0	False	1:170967515	0
OR9G1	390174	broad.mit.edu	37	11	56468064	56468064	+	Silent	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:56468064T>C	ENST00000312153.1	+	1	201	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1	NA										breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATCTGTCGTTTCTGGATCTCT	0.463		NA											False	0	True	11:56468064	0
HOMER2	0	broad.mit.edu	37	15	83527855	83527855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:83527855C>A	ENST00000304231.8	-	5	645	c.453G>T	c.(451-453)aaG>aaT	p.K151N	HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	151					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						CGTGAGAGGCCTTTTCATCGT	0.498		NA											False	0	True	15:83527855	0
LRRK1	79705	broad.mit.edu	37	15	101529485	101529485	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:101529485G>A	ENST00000284395.5	+	7	1035	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	LRRK1_ENST00000388948.3_Missense_Mutation_p.R215Q|LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	215					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTGCTTCGGCATGGGGCC	0.483		NA											False	0	False	15:101529485	0
SLCO6A1	133482	broad.mit.edu	37	5	101748803	101748803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:101748803C>T	ENST00000506729.1	-	9	1688	c.1517G>A	c.(1516-1518)tGt>tAt	p.C506Y	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	506	Kazal-like.					integral to membrane|plasma membrane	transporter activity	p.C506S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGAGCATCTACATTTTTCATT	0.333		NA											False	0	False	5:101748803	0
PCDH10	57575	broad.mit.edu	37	4	134072871	134072871	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:134072871T>G	ENST00000264360.5	+	1	2402	c.1576T>G	c.(1576-1578)Tac>Gac	p.Y526D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGCTACTTGTACGCCCTGCG	0.597		NA											False	0	False	4:134072871	0
DAB2IP	153090	broad.mit.edu	37	9	124535711	124535711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:124535711G>T	ENST00000408936.3	+	12	3086	c.2904G>T	c.(2902-2904)agG>agT	p.R968S	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	968					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCGCCTGAGGCAGCAGTCCT	0.652		NA											False	0	False	9:124535711	0
GRSF1	2926	broad.mit.edu	37	4	71691088	71691088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:71691088T>C	ENST00000254799.6	-	8	1435	c.1318A>G	c.(1318-1320)Act>Gct	p.T440A	GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	440	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCTTCTCCAGTGGCCTTCCCA	0.488		NA											False	0	False	4:71691088	0
EGR1	1958	broad.mit.edu	37	5	137803753	137803753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:137803753A>G	ENST00000239938.4	+	2	1887	c.1615A>G	c.(1615-1617)Aca>Gca	p.T539A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	539					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCTCCCAGGACAATTGAAAT	0.502		NA											False	0	False	5:137803753	0
CSNK2A3	283106	broad.mit.edu	37	11	11373917	11373917	+	Silent	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:11373917C>G	ENST00000528848.2	-	1	987	c.750G>C	c.(748-750)ggG>ggC	p.G250G	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide	NA											NA						AATCTTCTGTCCCCAGAAACT	0.418		NA											False	0	True	11:11373917	0
KIAA1217	56243	broad.mit.edu	37	10	24762714	24762714	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:24762714C>A	ENST00000376451.2	+	2	818	c.558C>A	c.(556-558)tcC>tcA	p.S186S	KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000307544.6_Silent_p.S186S|KIAA1217_ENST00000376454.3_Silent_p.S468S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000376452.3_Silent_p.S468S			Q5T5P2	SKT_HUMAN	KIAA1217	468					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACTGGGCTCCAAAACACCCC	0.507		NA											False	0	True	10:24762714	0
MYOZ1	58529	broad.mit.edu	37	10	75399731	75399731	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:75399731G>A	ENST00000359322.4	-	2	409	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	15					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TCAGCTTGCTGGATTTCCTCT	0.517		NA											False	0	False	10:75399731	0
FLG	2312	broad.mit.edu	37	1	152284997	152284997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152284997G>A	ENST00000368799.1	-	3	2400	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	789	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCGAGACCTT	0.567		NA							Ichthyosis				False	0	False	1:152284997	0
PCDH11X	27328	broad.mit.edu	37	X	91090988	91090988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	162	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343		NA											False	0	False	X:91090988	0
DMD	1756	broad.mit.edu	37	X	31198512	31198512	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:31198512T>A	ENST00000357033.4	-	69	10267	c.10061A>T	c.(10060-10062)tAt>tTt	p.Y3354F	DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3354	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACCATGGGATAGTGCATTTT	0.418		NA											False	0	False	X:31198512	0
COL5A3	50509	broad.mit.edu	37	19	10081324	10081324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:10081324C>T	ENST00000264828.3	-	54	3995	c.3910G>A	c.(3910-3912)Ggc>Agc	p.G1304S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1304	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ccgggggcgccgggcTCCCCA	0.607		NA											False	0	True	19:10081324	0
KCNA2	3737	broad.mit.edu	37	1	111147355	111147355	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:111147355C>A	ENST00000485317.1	-	3	723	c.50G>T	c.(49-51)gGg>gTg	p.G17V	KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	17						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CTGTGGGTGCCCAGGGAGGGC	0.597		NA											False	0	True	1:111147355	0
NPAT	4863	broad.mit.edu	37	11	108032080	108032080	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:108032080C>T	ENST00000278612.8	-	17	3838	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1245	Required for acceleration of G1 phase.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGTAACATTTCTGTGGTAATC	0.433		NA											False	0	True	11:108032080	0
FLNB	2317	broad.mit.edu	37	3	58134060	58134060	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58134060T>A	ENST00000357272.4	+	35	6021	c.5856T>A	c.(5854-5856)tgT>tgA	p.C1952*	FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*			O75369	FLNB_HUMAN	filamin B, beta	1952	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACGAGCCCTGTCTCCTGAAGA	0.602		NA											False	0	False	3:58134060	0
FLNA	0	broad.mit.edu	37	X	153577233	153577233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:153577233C>T	ENST00000422373.1	-	47	8152	c.7904G>A	c.(7903-7905)cGc>cAc	p.R2635H	FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000369850.3_Missense_Mutation_p.R2643H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2643	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCACAACGCGGTAGGGGCT	0.687		NA											False	0	False	X:153577233	0
PTGS1	5742	broad.mit.edu	37	9	125140773	125140773	+	Silent	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125140773G>T	ENST00000362012.2	+	4	278	c.273G>T	c.(271-273)ctG>ctT	p.L91L	PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	91					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCCACTTCCTGCTCACTCACG	0.622		NA											False	0	True	9:125140773	0
ASB9	140462	broad.mit.edu	37	X	15266926	15266926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266926G>A	ENST00000546332.1	-	7	1183	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ASB9_ENST00000380485.3_Missense_Mutation_p.R234C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000380488.4_Missense_Mutation_p.R234C	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	234					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TCCACAGGACGTTTGCCTTCA	0.557		NA											False	0	True	X:15266926	0
DAAM1	23002	broad.mit.edu	37	14	59789651	59789651	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:59789651T>G	ENST00000395125.1	+	5	505	c.482T>G	c.(481-483)aTc>aGc	p.I161S	DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S|DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	161	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTATCATGTATCCTCAACTTT	0.418		NA											False	0	False	14:59789651	0
PTPN13	0	broad.mit.edu	37	4	87684337	87684337	+	Silent	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:87684337A>T	ENST00000436978.1	+	24	4491	c.4011A>T	c.(4009-4011)ccA>ccT	p.P1337P	PTPN13_ENST00000411767.2_Silent_p.P1337P|PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1337						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCAAACACCAAAACAGGCAT	0.363		NA											False	0	True	4:87684337	0
ZFYVE9	9372	broad.mit.edu	37	1	52740258	52740258	+	Splice_Site	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:52740258T>C	ENST00000287727.3	+	8	2918		c.e8+2		ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000371591.1_Splice_Site			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	NA					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAAAAGGAGGTAAGTGGACTA	0.398		NA											False	0	False	1:52740258	0
TERT	0	broad.mit.edu	37	5	1253880	1253880	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:1253880G>T	ENST00000310581.5	-	16	3419	c.3362C>A	c.(3361-3363)cCg>cAg	p.P1121Q	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1121	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCAGTGCCGGGTTGGCTGC	0.662		NA							TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				False	0	True	5:1253880	0
FLNB	2317	broad.mit.edu	37	3	58107201	58107201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58107201G>A	ENST00000357272.4	+	20	3262	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K			O75369	FLNB_HUMAN	filamin B, beta	1033					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTACACAGTGGAGGCCTCGCT	0.567		NA											False	0	False	3:58107201	0
DLGAP2	9228	broad.mit.edu	37	8	1497384	1497384	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:1497384C>T	ENST00000421627.2	+	2	659	c.525C>T	c.(523-525)aaC>aaT	p.N175N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	254					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCAACGCCAACGGCACCAAGG	0.672		NA											False	0	False	8:1497384	0
CCSER2	54462	broad.mit.edu	37	10	86131917	86131917	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:86131917A>T	ENST00000224756.8	+	2	1294	c.1109A>T	c.(1108-1110)aAt>aTt	p.N370I	CCSER2_ENST00000359979.4_Missense_Mutation_p.N370I|CCSER2_ENST00000372088.2_Missense_Mutation_p.N370I	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2			coiled-coil serine-rich protein 2	NA											NA						CTGATTGAAAATGAAAGTTAT	0.378		NA											False	0	True	10:86131917	0
PRSS35	167681	broad.mit.edu	37	6	84233558	84233558	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:84233558T>C	ENST00000536636.1	+	3	743	c.398T>C	c.(397-399)aTc>aCc	p.I133T	PRSS35_ENST00000369700.3_Missense_Mutation_p.I133T	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGGTTCAGCATCTTGGACAAA	0.458		NA											False	0	False	6:84233558	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402618	136402618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:136402618G>A	ENST00000393061.3	+	3	941	c.509G>A	c.(508-510)cGc>cAc	p.R170H	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R61H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	61					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCGTGTTCCCGCAGTTGCGGG	0.672		NA											False	0	True	9:136402618	0
AC096579.13	0	broad.mit.edu	37	2	89111197	89111197	+	RNA	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:89111197C>T	ENST00000452230.1	-	0	207										NA											NA						AGCATGGTGACGAAGGCGAAG	0.562		NA											False	0	False	2:89111197	0
ITK	3702	broad.mit.edu	37	5	156608099	156608099	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:156608099C>T	ENST00000422843.3	+	1	263	c.111C>T	c.(109-111)agC>agT	p.S37S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	37	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAAGCCAGCCTGGCATACT	0.398		NA	T	SYK	peripheral T-cell lymphoma								False	0	True	5:156608099	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578406	0
CXorf22	170063	broad.mit.edu	37	X	35989882	35989882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:35989882G>A	ENST00000297866.5	+	12	2216	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	717										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGTCTGTGAGAAGAAAGGCA	0.368		NA											False	0	False	X:35989882	0
FLT4	2324	broad.mit.edu	37	5	180057054	180057054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:180057054G>A	ENST00000261937.6	-	5	643	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	189	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCATGCCCCGCCGGTCATCC	0.647		NA											False	0	True	5:180057054	0
HEPH	9843	broad.mit.edu	37	X	65409671	65409671	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:65409671C>T	ENST00000519389.1	+	6	1295	c.1116C>T	c.(1114-1116)caC>caT	p.H372H	HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H|HEPH_ENST00000343002.2_Silent_p.H318H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H			Q9BQS7	HEPH_HUMAN	hephaestin	318					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCGTGGACACCACACTGATG	0.507		NA											False	0	False	X:65409671	0
ASB9	140462	broad.mit.edu	37	X	15266898	15266898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266898C>T	ENST00000546332.1	-	7	1211	c.728G>A	c.(727-729)aGc>aAc	p.S243N	ASB9_ENST00000380485.3_Missense_Mutation_p.S243N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000380488.4_Missense_Mutation_p.S243N	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	243	SOCS box.				intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GGCCAAGGGGCTCTCTGGAGG	0.557		NA											False	0	True	X:15266898	0
HCK	3055	broad.mit.edu	37	20	30662501	30662501	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:30662501C>T	ENST00000534862.1	+	6	708	c.345C>T	c.(343-345)cgC>cgT	p.R115R	HCK_ENST00000520553.1_Silent_p.R114R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000375862.2_Silent_p.R134R	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	135	SH3.				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)			ATGTCGCCCGCGTTGACTCTC	0.552		NA											False	0	False	20:30662501	0
OR1K1	0	broad.mit.edu	37	9	125563309	125563309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125563309G>A	ENST00000277309.2	+	1	940	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGGGCACTCCGAGCCCTTCTC	0.582		NA											False	0	False	9:125563309	0
PPEF1	5475	broad.mit.edu	37	X	18845404	18845404	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:18845404C>T	ENST00000361511.4	+	19	2255	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	PPEF1_ENST00000359763.6_Silent_p.S534S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000349874.5_Silent_p.S525S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	587	EF-hand 2.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GCCTGATCTCCGTGGAAGAAT	0.418		NA											False	0	False	X:18845404	0
CCDC81	60494	broad.mit.edu	37	11	86131064	86131064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:86131064C>T	ENST00000278487.3	+	13	2070	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000445632.2_Nonsense_Mutation_p.Q596*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	596										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GATGAAGAAGCAGCGAGACCT	0.517		NA											False	0	False	11:86131064	0
ZEB1	6935	broad.mit.edu	37	10	31810814	31810814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:31810814C>T	ENST00000446923.2	+	7	2894	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	ZEB1_ENST00000320985.10_Missense_Mutation_p.P851S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	851					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACGGTCAGCCCTGCAGTCCA	0.463		NA											False	0	True	10:31810814	0
E2F3	1871	broad.mit.edu	37	6	20490617	20490617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:20490617G>A	ENST00000346618.3	+	7	1420	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	452	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CGATGCTTACGATTTGGAAAA	0.468		NA											False	0	False	6:20490617	0
DNAH17	8632	broad.mit.edu	37	17	76571032	76571032	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76571032G>A	ENST00000389840.5	-	2	232	c.108C>T	c.(106-108)aaC>aaT	p.N36N	DNAH17_ENST00000585328.1_Silent_p.N36N					dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGGCCACGTTCTCCTCGG	0.587		NA											False	0	False	17:76571032	0
SLC22A11	55867	broad.mit.edu	37	11	64329841	64329841	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:64329841T>A	ENST00000301891.4	+	4	1129	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	252					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GCCTTTGCCCTGCGGGACTGG	0.627		NA											False	0	True	11:64329841	0
ASB1	51665	broad.mit.edu	37	2	239342283	239342283	+	Nonsense_Mutation	SNP	C	C	G	rs140110697		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:239342283C>G	ENST00000264607.4	+	2	385	c.138C>G	c.(136-138)taC>taG	p.Y46*	ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	46					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		ATGCAGCTTACGTCGGGGACC	0.597		NA											False	0	False	2:239342283	0
FAT2	2196	broad.mit.edu	37	5	150923942	150923942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:150923942G>T	ENST00000261800.5	-	9	6758	c.6746C>A	c.(6745-6747)gCt>gAt	p.A2249D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2249	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCCCAGAGCTGTATCCGT	0.473		NA											False	0	False	5:150923942	0
FMO1	2326	broad.mit.edu	37	1	171254564	171254564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:171254564C>T	ENST00000354841.4	+	8	1611	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	494					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAGTGGGACCGAACATTCAA	0.478		NA											False	0	False	1:171254564	0
DNAJC13	23317	broad.mit.edu	37	3	132209833	132209833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:132209833G>T	ENST00000260818.6	+	32	3809	c.3561G>T	c.(3559-3561)aaG>aaT	p.K1187N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1187							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACCTGAAAAGTTTTCTGAGA	0.323		NA											False	0	True	3:132209833	0
CACNG3	10368	broad.mit.edu	37	16	24372859	24372859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:24372859G>A	ENST00000005284.3	+	4	1825	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	208					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGCAGTTACGAGCCAAATCC	0.488		NA											False	0	False	16:24372859	0
CXorf21	80231	broad.mit.edu	37	X	30578132	30578132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:30578132G>T	ENST00000378962.3	-	3	663	c.341C>A	c.(340-342)cCa>cAa	p.P114Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	114										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCAAGAAGATGGAACCAAGTA	0.443		NA											False	0	False	X:30578132	0
SCN1A	6323	broad.mit.edu	37	2	166848439	166848439	+	Silent	SNP	G	G	A	rs121918763		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:166848439G>A	ENST00000423058.2	-	26	5363	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	SCN1A_ENST00000409050.1_Silent_p.I1754I|SCN1A_ENST00000303395.4_Silent_p.I1782I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1771I|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1782			I -> M (in SMEI; dbSNP:rs121918763).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGATGACCGCGATGTACATGT	0.443		NA											False	0	False	2:166848439	0
FLNC	2318	broad.mit.edu	37	7	128478769	128478769	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:128478769A>T	ENST00000325888.8	+	8	1584	c.1323A>T	c.(1321-1323)agA>agT	p.R441S	FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	441					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCACATACAGACCTGCCATGG	0.637		NA											False	0	False	7:128478769	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0
PDS5B	23047	broad.mit.edu	37	13	33253063	33253063	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33253063A>T	ENST00000315596.10	+	10	1240	c.1054A>T	c.(1054-1056)Aca>Tca	p.T352S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	352					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGACTTAACAGGTACTAT	0.368		NA											False	0	False	13:33253063	0
KCNT1	57582	broad.mit.edu	37	9	138675926	138675926	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:138675926C>T	ENST00000298480.5	+	25	2972	c.2898C>T	c.(2896-2898)gcC>gcT	p.A966A	KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000263604.3_Silent_p.A947A			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	966						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGTTCGCCGCCGGCCGCGTCT	0.667		NA											False	0	True	9:138675926	0
HECW2	57520	broad.mit.edu	37	2	197208385	197208385	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:197208385C>G	ENST00000260983.3	-	3	578	c.396G>C	c.(394-396)atG>atC	p.M132I	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	NA					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACTTACGTTCCATGAAATAGG	0.358		NA											False	0	False	2:197208385	0
TCEAL5	340543	broad.mit.edu	37	X	102529240	102529240	+	Silent	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:102529240T>A	ENST00000372680.1	-	3	546	c.252A>T	c.(250-252)ccA>ccT	p.P84P		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CCTCACTTTGTGGCTTGTCCT	0.587		NA											False	0	False	X:102529240	0
SEMA6B	10501	broad.mit.edu	37	19	4555520	4555520	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:4555520G>A	ENST00000586582.1	-	7	838	c.528C>T	c.(526-528)taC>taT	p.Y176Y	SEMA6B_ENST00000301293.3_Silent_p.Y176Y|SEMA6B_ENST00000586965.1_Silent_p.Y176Y	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	176	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGGGGTCGTACGGGCAGC	0.602		NA											False	0	False	19:4555520	0
CCT8L2	150160	broad.mit.edu	37	22	17073061	17073061	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:17073061A>T	ENST00000359963.3	-	1	639	c.380T>A	c.(379-381)cTg>cAg	p.L127Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	127					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCGAGGCAGGCCAGCCTT	0.642		NA											False	0	True	22:17073061	0
OR13F1	138805	broad.mit.edu	37	9	107267140	107267140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:107267140G>A	ENST00000334726.2	+	1	686	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTTAATCATGCTGGTGATCA	0.433		NA											False	0	False	9:107267140	0
U2SURP	23350	broad.mit.edu	37	3	142741878	142741878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142741878C>T	ENST00000397933.2	+	12	1301	c.19C>T	c.(19-21)Cac>Tac	p.H7Y	U2SURP_ENST00000473835.2_Missense_Mutation_p.P401L|U2SURP_ENST00000493598.2_Missense_Mutation_p.P400L			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	0					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATGTTACCGCCACCTAAAAAC	0.403		NA											False	0	False	3:142741878	0
MROH9	80133	broad.mit.edu	37	1	170967516	170967516	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967516G>T	ENST00000367758.3	+	15	1796	c.1697G>T	c.(1696-1698)gGt>gTt	p.G566V	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9	NA											NA						CTGAATGTTGGTTCTTACCAA	0.408		NA											False	0	False	1:170967516	0
LRP1B	53353	broad.mit.edu	37	2	141641448	141641448	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:141641448T>A	ENST00000389484.3	-	25	5078	c.4107A>T	c.(4105-4107)agA>agT	p.R1369S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1369					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTAGTGTAGTTCTTAGGGAGC	0.458		NA								TSP Lung(27;0.18)			False	0	False	2:141641448	0
FSTL4	23105	broad.mit.edu	37	5	132535363	132535363	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:132535363G>A	ENST00000265342.7	-	16	2202	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	651						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCGCCCAGGTGGGTGTGTG	0.622		NA											False	0	True	5:132535363	0
PCDHA4	0	broad.mit.edu	37	5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1				NA										breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.662		NA											False	0	True	5:140188280	0
OR12D2	26529	broad.mit.edu	37	6	29365221	29365221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:29365221C>A	ENST00000383555.2	+	1	806	c.745C>A	c.(745-747)Ctt>Att	p.L249I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L249V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGTAGTTATTCTTTTCTATGC	0.443		NA											False	0	True	6:29365221	0
AGBL1	123624	broad.mit.edu	37	15	86838550	86838550	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:86838550T>C	ENST00000441037.2	+	16	2242	c.2147T>C	c.(2146-2148)cTc>cCc	p.L716P	AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P|AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	716					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAGATGTTCTCTGCCAGACG	0.483		NA											False	0	False	15:86838550	0
OR10A6	390093	broad.mit.edu	37	11	7949776	7949776	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:7949776A>G	ENST00000309838.2	-	1	433	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAAATATAATTAATTTCAT	0.338		NA											False	0	True	11:7949776	0
PCNXL2	80003	broad.mit.edu	37	1	233394271	233394271	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:233394271G>C	ENST00000258229.9	-	5	1571	c.1337C>G	c.(1336-1338)cCc>cGc	p.P446R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATTGCCTTCGGGACAGGGAAC	0.572		NA											False	0	True	1:233394271	0
NTF3	4908	broad.mit.edu	37	12	5603961	5603961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:5603961G>A	ENST00000423158.3	+	2	832	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	NTF3_ENST00000331010.6_Missense_Mutation_p.R194Q|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	194					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R194P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TATGAAACGCGATGTAAGGAA	0.507		NA											False	0	False	12:5603961	0
SPARC	6678	broad.mit.edu	37	5	151049237	151049237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:151049237C>T	ENST00000231061.4	-	6	752	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	147	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TTGCAAGGCCCGATGTAGTCC	0.572		NA											False	0	True	5:151049237	0
RAB39A	54734	broad.mit.edu	37	11	107832887	107832887	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:107832887A>T	ENST00000320578.2	+	2	509	c.443A>T	c.(442-444)gAc>gTc	p.D148V		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	148					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				NA						CTGTCAGCAGACTGTGGAATG	0.373		NA											False	0	False	11:107832887	0
ARHGEF37	389337	broad.mit.edu	37	5	149001460	149001460	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:149001460C>T	ENST00000333677.6	+	9	1333	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	390	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGAGGAGGCCGCCCGGCACA	0.577		NA											False	0	False	5:149001460	0
PCDHA7	0	broad.mit.edu	37	5	140215334	140215334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140215334G>A	ENST00000525929.1	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1				NA										NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGCGTTCGCGCAGCCCGA	0.677		NA											False	0	False	5:140215334	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R					ankyrin repeat domain 36C	NA								p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383		NA											False	0	False	2:96521777	0
MRPL45P2	0	broad.mit.edu	37	17	45567651	45567651	+	RNA	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:45567651A>T	ENST00000575291.1	-	0	265										NA											NA						CATAGGCATCAAATATACCAG	0.343		NA											False	0	True	17:45567651	0
VPS13D	55187	broad.mit.edu	37	1	12316444	12316444	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:12316444G>C	ENST00000358136.3	+	8	854	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	242					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTGGAGCCTGTGTTTGCATC	0.542		NA											False	0	False	1:12316444	0
SPTBN4	57731	broad.mit.edu	37	19	41009810	41009810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:41009810C>T	ENST00000352632.3	+	12	1522	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A479V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	479					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGACATTGCGGCCTACGAG	0.637		NA											False	0	False	19:41009810	0
NOBOX	135935	broad.mit.edu	37	7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AATCTCTCGGCGTTTATCACT	0.557		NA											False	0	False	7:144097345	0
ALG9	79796	broad.mit.edu	37	11	111749420	111749420	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:111749420G>A	ENST00000524880.1	-	2	481	c.189C>T	c.(187-189)ttC>ttT	p.F63F	FDXACB1_ENST00000542429.1_Intron|FDXACB1_ENST00000260257.4_Silent_p.F63F			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGTCCACACCGAAACGTACAT	0.458		NA									OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:111749420	0
ERO1L	30001	broad.mit.edu	37	14	53110325	53110325	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:53110325A>T	ENST00000395686.3	-	16	1593	c.1370T>A	c.(1369-1371)tTa>tAa	p.L457*		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	457					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GAAGTTTTCTAATTCTTTCAC	0.303		NA											False	0	False	14:53110325	0
CSMD2	114784	broad.mit.edu	37	1	34068023	34068023	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:34068023C>T	ENST00000373381.4	-	43	6832	c.6656G>A	c.(6655-6657)cGc>cAc	p.R2219H	CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R1092H|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2221	CUB 13.					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)				GAGGTTGAGGCGGACGCCATG	0.577		NA											False	0	False	1:34068023	0
ASPM	259266	broad.mit.edu	37	1	197071382	197071382	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:197071382C>T	ENST00000367409.4	-	18	7255	c.6999G>A	c.(6997-6999)gaG>gaA	p.E2333E	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2333	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCCTGTGCATCTCTCGCATCC	0.408		NA											False	0	True	1:197071382	0
FOXO3	2309	broad.mit.edu	37	6	108985160	108985160	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:108985160C>G	ENST00000406360.1	+	2	1467	c.1124C>G	c.(1123-1125)aCc>aGc	p.T375S	FOXO3_ENST00000343882.6_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	375					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATGGCAGGCACCATGAATCTG	0.582		NA											False	0	True	6:108985160	0
A4GNT	51146	broad.mit.edu	37	3	137849964	137849964	+	Silent	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:137849964G>C	ENST00000236709.3	-	2	336	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	45					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGTGGCTCAGGAGGGCTTCCA	0.537		NA											False	0	False	3:137849964	0
SVEP1	79987	broad.mit.edu	37	9	113169147	113169147	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:113169147C>G	ENST00000401783.2	-	38	9069	c.8733G>C	c.(8731-8733)aaG>aaC	p.K2911N	SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N|SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2911	Sushi 25.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGTTACTTCCTTCATGAAGC	0.552		NA											False	0	True	9:113169147	0
IGSF1	3547	broad.mit.edu	37	X	130409231	130409231	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:130409231G>C	ENST00000370904.1	-	23	4097	c.3187C>G	c.(3187-3189)Cag>Gag	p.Q1063E	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q1072E|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1072					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.Q1072*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGACCAGGCTGGGCTAATAGG	0.542		NA											False	0	True	X:130409231	0
AK7	122481	broad.mit.edu	37	14	96864443	96864443	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:96864443T>G	ENST00000267584.4	+	2	181	c.137T>G	c.(136-138)cTt>cGt	p.L46R	AK7_ENST00000555570.1_Missense_Mutation_p.L46R	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	46					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGGGCTTCGCTTGAAGAAATT	0.418		NA											False	0	False	14:96864443	0
TAS2R42	353164	broad.mit.edu	37	12	11338898	11338898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:11338898G>A	ENST00000334266.1	-	1	645	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	216					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AAGGAACTGAGCTTCAAATTT	0.418		NA											False	0	False	12:11338898	0
MUC4	4585	broad.mit.edu	37	3	195517059	195517059	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:195517059C>A	ENST00000463781.3	-	2	1851	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.R464R|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	469					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTCATGAGGCCGTCCTGTGG	0.493		NA											False	0	False	3:195517059	0
ZNF521	25925	broad.mit.edu	37	18	22805592	22805592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:22805592C>T	ENST00000361524.3	-	4	2438	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K|ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	764					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGTCAGTTTCGTTGCGGAAG	0.473		NA	T	PAX5	ALL								False	0	True	18:22805592	0
GALR1	2587	broad.mit.edu	37	18	74962928	74962928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:74962928C>T	ENST00000299727.3	+	1	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	142					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GCACTCGCGGCGCTCCTCCTC	0.657		NA											False	0	False	18:74962928	0
CECR2	27443	broad.mit.edu	37	22	18003349	18003349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:18003349G>A	ENST00000262608.8	+	8	1037	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	CECR2_ENST00000342247.5_Missense_Mutation_p.R317H|CECR2_ENST00000400585.2_Intron|CECR2_ENST00000400573.5_Intron	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	387					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCGACCAGCCGTCCTGTAGCC	0.448		NA											False	0	False	22:18003349	0
GPR83	10888	broad.mit.edu	37	11	94134167	94134167	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:94134167C>A	ENST00000243673.2	-	1	418	c.247G>T	c.(247-249)Gtc>Ttc	p.V83F	GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	83						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGTGAGAAGACAATGATGAAG	0.557		NA											False	0	False	11:94134167	0
PDS5B	23047	broad.mit.edu	37	13	33332728	33332728	+	Silent	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33332728A>G	ENST00000315596.10	+	28	3432	c.3246A>G	c.(3244-3246)acA>acG	p.T1082T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1082					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAGTACTACATACAGTTTGG	0.358		NA											False	0	True	13:33332728	0
PRDM12	59335	broad.mit.edu	37	9	133540159	133540159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:133540159G>A	ENST00000253008.2	+	1	179	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CTGTACGGCCGCTGGCGCAAC	0.677		NA											False	0	False	9:133540159	0
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				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)				AAAAGTAATTCGGGGGCTCTC	0.413		NA											False	0	True	8:52384855	0
DNAH17	8632	broad.mit.edu	37	17	76459132	76459132	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76459132A>G	ENST00000389840.5	-	57	9050	c.8926T>C	c.(8926-8928)Ttc>Ctc	p.F2976L	DNAH17_ENST00000585328.1_Missense_Mutation_p.F2985L|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17	NA										NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGGACATGAAGAAGCTGATG	0.542		NA											False	0	False	17:76459132	0
DDX31	64794	broad.mit.edu	37	9	135487492	135487492	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135487492C>G	ENST00000372159.3	-	19	2442	c.2291G>C	c.(2290-2292)aGg>aCg	p.R764T	DDX31_ENST00000372153.1_Missense_Mutation_p.R691T|DDX31_ENST00000438527.3_Missense_Mutation_p.R635T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	764						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GTGTGCTTTCCTCTTCTTTCT	0.532		NA											False	0	False	9:135487492	0
PC	5091	broad.mit.edu	37	11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:66638642C>T	ENST00000393960.1	-	7	795	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000393958.2_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622		NA											False	0	True	11:66638642	0
PARK2	5071	broad.mit.edu	37	6	162864492	162864492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:162864492G>T	ENST00000366898.1	-	2	123	c.21C>A	c.(19-21)ttC>ttA	p.F7L	PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	7	Ubiquitin-like.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTGGAGTTGAACCTGACAA	0.498		NA											False	0	False	6:162864492	0
MTM1	4534	broad.mit.edu	37	X	149826497	149826497	+	Silent	SNP	A	A	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:149826497A>C	ENST00000370396.2	+	11	1311	c.1257A>C	c.(1255-1257)gcA>gcC	p.A419A	MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	419	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAATTTGCATCTGTGAGTA	0.318		NA											False	0	False	X:149826497	0
CACNA1A	773	broad.mit.edu	37	19	13409765	13409765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:13409765C>A	ENST00000360228.5	-	19	2681	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	895					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGTAGGGTCCCTCCCGGCTCA	0.771		NA											False	0	True	19:13409765	0
GDF11	0	broad.mit.edu	37	12	56142711	56142711	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:56142711G>C	ENST00000257868.5	+	2	824	c.787G>C	c.(787-789)Gat>Cat	p.D263H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	263					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAACGCCTTTGATCCCAGTGG	0.622		NA											False	0	True	12:56142711	0
