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-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000396053.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596		NA											False	1	True	11:116729011	0
SLC27A3	11000	broad.mit.edu	37	1	153750721	153750722	+	Frame_Shift_Ins	INS	-	-	AACTCATAGGCAGTGCACCCAGTCAGCCAAGAAGTGATGTA			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:153750721_153750722insAACTCATAGGCAGTGCACCCAGTCAGCCAAGAAGTGATGTA	ENST00000271857.2	+	5	2390_2391	c.1630_1631insAACTCATAGGCAGTGCACCCAGTCAGCCAAGAAGTGATGTA	c.(1630-1632)ttcfs	p.F544fs	SLC27A3_ENST00000368661.3_Frame_Shift_Ins_p.F463fs|SLC27A3_ENST00000484014.1_3'UTR			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	463					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGTGCGGCGCTTCGGGCCCCTG	0.644		NA											False	0	False	1:153750721	0
OGFOD1	55239	broad.mit.edu	37	16	56509440	56509441	+	Frame_Shift_Ins	INS	-	-	GTTTTTTT	rs147207036	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:56509440_56509441insGTTTTTTT	ENST00000566157.1	+	12	1553_1554	c.1430_1431insGTTTTTTT	c.(1429-1434)ggttttfs	p.-478fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.-435fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	NA							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAATATGGCGGTTTTACTTCTT	0.366		NA											False	0	True	16:56509440	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
WDR59	79726	broad.mit.edu	37	16	74949826	74949827	+	In_Frame_Ins	INS	-	-	GAG			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:74949826_74949827insGAG	ENST00000262144.6	-	13	1295_1296	c.1165_1166insCTC	c.(1165-1167)cag>cCTCag	p.388_389insP		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	388										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTGCAAGGTCTGAGGCAGCCCC	0.45		NA											False	1	False	16:74949826	0
MUC16	94025	broad.mit.edu	37	19	8999497	8999498	+	In_Frame_Ins	INS	-	-	TCC			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:8999497_8999498insTCC	ENST00000397910.4	-	56	40880_40881	c.40677_40678insGGA	c.(40675-40680)agccct>agcGGAcct	p.13559_13560SP>SGP	MUC16_ENST00000380951.5_In_Frame_Ins_p.200_201SP>SGP	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13561	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGTCCAGGGCTTTTGGGAT	0.584		NA											False	0	True	19:8999497	0
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71		NA											False	1	False	19:14083667	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22658397	22658399	+	RNA	DEL	AGG	AGG	-			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr22:22658397_22658399delAGG	ENST00000426066.1	+	0	164_166					NR_027293.1					NA											NA						AGAAAATTGAAGGAGATGTTTGA	0.365		NA											False	1	False	22:22658397	0
UBL4A	8266	broad.mit.edu	37	X	153713785	153713787	+	In_Frame_Del	DEL	GAC	GAC	-	rs7057286	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:153713785_153713787delGAC	ENST00000369653.4	-	5	455_457	c.425_427delGTC	c.(424-429)cgtcat>cat	p.R142del	UBL4A_ENST00000369660.4_3'UTR|UBL4A_ENST00000477777.1_5'UTR			P11441	UBL4A_HUMAN	ubiquitin-like 4A	0					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					TGCCAGCTATGACGATGATGAGC	0.571		NA											False	1	False	X:153713785	0
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G	rs149873671		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663		NA											False	1	False	2:95539829	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	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
FBXL5	26234	broad.mit.edu	37	4	15642506	15642507	+	Splice_Site	INS	-	-	CTTA			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:15642506_15642507insCTTA	ENST00000341285.3	-	3	425	c.301_301insTAAG	c.(301-303)aat>TAAGaat	p.N101fs	FBXL5_ENST00000412094.2_Splice_Site_p.N84fs|FBXL5_ENST00000382358.4_5'UTR	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	101	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TCATATTCATTCTGGAAACCAA	0.332		NA											False	0	True	4:15642506	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
CCNB1	891	broad.mit.edu	37	5	68471261	68471275	+	In_Frame_Del	DEL	TGGAACTAACTATGT	TGGAACTAACTATGT	-	rs144115364		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	TGGAACTAACTATGT	TGGAACTAACTATGT	-	-	TGGAACTAACTATGT	TGGAACTAACTATGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:68471261_68471275delTGGAACTAACTATGT	ENST00000256442.5	+	7	1233_1247	c.980_994delTGGAACTAACTATGT	c.(979-996)atggaactaactatgttg>atg	p.ELTML328del		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	328					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAATACCTGATGGAACTAACTATGTTGGACTATGA	0.405		NA											False	1	True	5:68471261	0
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304		NA											False	1	True	5:115202418	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
SRF	6722	broad.mit.edu	37	6	43144290	43144295	+	In_Frame_Del	DEL	GGCAGT	GGCAGT	-			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GGCAGT	GGCAGT	-	-	GGCAGT	GGCAGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:43144290_43144295delGGCAGT	ENST00000265354.4	+	4	1405_1410	c.1047_1052delGGCAGT	c.(1045-1053)ggggcagtg>ggg	p.AV350del	SRF_ENST00000457278.2_In_Frame_Del_p.AV146del	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	350					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TTGCAGGTGGGGCAGTGGCCCAGCAG	0.617		NA											False	1	False	6:43144290	0
AXL	558	broad.mit.edu	37	19	41745081	41745081	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:41745081A>G	ENST00000301178.4	+	9	1337	c.1147A>G	c.(1147-1149)Ata>Gta	p.I383V	AXL_ENST00000593513.1_Missense_Mutation_p.I115V|AXL_ENST00000359092.3_Missense_Mutation_p.I383V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	383	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTAATGGACATAGGGCTAAG	0.572		NA											False	0	False	19:41745081	0
TYROBP	7305	broad.mit.edu	37	19	36398352	36398352	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:36398352C>T	ENST00000585901.2	-	3	243	c.225G>A	c.(223-225)gcG>gcA	p.A75A	TYROBP_ENST00000544690.2_Silent_p.A64A|TYROBP_ENST00000589517.1_Silent_p.A75A|TYROBP_ENST00000262629.4_Silent_p.A75A|TYROBP_ENST00000424586.3_Silent_p.A64A			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	75					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTCACCCTCCGCAGCCCCTC	0.632		NA											False	0	False	19:36398352	0
KDR	3791	broad.mit.edu	37	4	55956204	55956204	+	Silent	SNP	C	C	T	rs147630437		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:55956204C>T	ENST00000263923.4	-	23	3406	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1037	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428		NA	Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			False	0	False	4:55956204	0
ZCCHC3	85364	broad.mit.edu	37	20	279077	279077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:279077C>T	ENST00000382352.3	+	1	1341	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	284							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTGGCCGTGCCGGTGAAAGT	0.627		NA											False	0	False	20:279077	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
AHNAK2	113146	broad.mit.edu	37	14	105415037	105415037	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr14:105415037G>T	ENST00000333244.5	-	7	6870	c.6751C>A	c.(6751-6753)Ctc>Atc	p.L2251I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2251						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCTTGAGGTCCACTTTG	0.602		NA											False	0	False	14:105415037	0
ZNF155	7711	broad.mit.edu	37	19	44495748	44495748	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:44495748C>G	ENST00000270014.2	+	3	192	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V|ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	22	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TGAGGAGGAGCTGGGGCTGCT	0.532		NA											False	0	True	19:44495748	0
PTBP2	58155	broad.mit.edu	37	1	97250690	97250690	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:97250690G>C	ENST00000609116.1	+	8	866	c.784G>C	c.(784-786)Gta>Cta	p.V262L	PTBP2_ENST00000394184.3_Missense_Mutation_p.V273L|PTBP2_ENST00000541987.1_Missense_Mutation_p.V231L|PTBP2_ENST00000370198.1_Missense_Mutation_p.V262L|PTBP2_ENST00000370197.1_Missense_Mutation_p.V262L|PTBP2_ENST00000426398.2_Missense_Mutation_p.V262L|PTBP2_ENST00000482253.1_3'UTR			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	NA							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GAATTTGAATGTAAAATACAA	0.388		NA											False	0	False	1:97250690	0
ZNF70	7621	broad.mit.edu	37	22	24086567	24086567	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr22:24086567C>G	ENST00000341976.3	-	2	1221	c.761G>C	c.(760-762)tGt>tCt	p.C254S		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						ACATTCCTTACACTGATAAGG	0.512		NA											False	0	False	22:24086567	0
TLK2	11011	broad.mit.edu	37	17	60689781	60689781	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:60689781G>C	ENST00000582809.1	+	23	2364	c.1661G>C	c.(1660-1662)cGa>cCa	p.R554P	TLK2_ENST00000326270.9_Missense_Mutation_p.R725P|TLK2_ENST00000343388.7_Missense_Mutation_p.R671P|TLK2_ENST00000346027.5_Missense_Mutation_p.R703P|TLK2_ENST00000542523.1_Missense_Mutation_p.R671P			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	725	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGCCTACCGAAAGGAGGAC	0.537		NA											False	0	True	17:60689781	0
SCNN1D	6339	broad.mit.edu	37	1	1225872	1225872	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:1225872G>A	ENST00000338555.2	+	11	2448	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	SCNN1D_ENST00000325425.8_Missense_Mutation_p.R501H|SCNN1D_ENST00000379116.5_Missense_Mutation_p.R599H|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R435H					sodium channel, non-voltage-gated 1, delta subunit	NA										lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TGCTTCTACCGCCTCTACCAG	0.667		NA											False	0	False	1:1225872	0
ASTN2	23245	broad.mit.edu	37	9	119188282	119188282	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:119188282C>T	ENST00000313400.4	-	23	3968	c.3868G>A	c.(3868-3870)Gtg>Atg	p.V1290M	ASTN2_ENST00000341734.4_Missense_Mutation_p.V342M|ASTN2_ENST00000361209.2_Missense_Mutation_p.V1239M|ASTN2_ENST00000361477.3_Missense_Mutation_p.V342M|ASTN2_ENST00000373996.3_Missense_Mutation_p.V1286M|ASTN2_ENST00000288520.5_Missense_Mutation_p.V391M			O75129	ASTN2_HUMAN	astrotactin 2	1290						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTGTTTCCACGCGGCTCTGG	0.582		NA											False	0	False	9:119188282	0
CSMD2	114784	broad.mit.edu	37	1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:33999485C>T	ENST00000373381.4	-	63	10078	c.9902G>A	c.(9901-9903)cGt>cAt	p.R3301H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3157						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)				TTTTTGACAACGGAAGAGGAC	0.562		NA											False	0	False	1:33999485	0
DNAH2	146754	broad.mit.edu	37	17	7721648	7721648	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7721648G>A	ENST00000572933.1	+	69	11866	c.10406G>A	c.(10405-10407)cGc>cAc	p.R3469H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3469H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3469	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTTGATGCGCATTGGCGAT	0.567		NA											False	0	False	17:7721648	0
TCP10	6953	broad.mit.edu	37	6	167789540	167789540	+	Missense_Mutation	SNP	G	G	A	rs28637384		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:167789540G>A	ENST00000366827.2	-	6	813	c.602C>T	c.(601-603)cCg>cTg	p.P201L	TCP10_ENST00000397829.4_Missense_Mutation_p.P201L			Q12799	TCP10_HUMAN	t-complex 10	228						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGAGTTTTGCGGACTTCGGGA	0.612		NA											False	0	False	6:167789540	0
MELK	9833	broad.mit.edu	37	9	36670999	36670999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:36670999C>T	ENST00000543751.1	+	15	1559	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	MELK_ENST00000298048.2_Missense_Mutation_p.R504C|MELK_ENST00000538311.1_Missense_Mutation_p.R310C|MELK_ENST00000545008.1_Missense_Mutation_p.R433C|MELK_ENST00000536329.1_Missense_Mutation_p.R433C|MELK_ENST00000536987.1_Missense_Mutation_p.R373C|MELK_ENST00000541717.1_Missense_Mutation_p.R463C|MELK_ENST00000536860.1_Missense_Mutation_p.R456C	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	504						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R504C(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TTTCAGGTGCCGCTCAGTGGA	0.488		NA											False	0	False	9:36670999	0
ALDH1A3	220	broad.mit.edu	37	15	101438319	101438319	+	Missense_Mutation	SNP	G	G	A	rs147665432		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:101438319G>A	ENST00000329841.5	+	8	1344	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.R164Q|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	271					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GCTGCGTCCCGGAGCAATCTG	0.557		NA											False	0	True	15:101438319	0
PCDHGA8	0	broad.mit.edu	37	5	140774356	140774356	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140774356C>T	ENST00000398604.2	+	1	1976	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1				NA										endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTGTCACGCTCACCGTA	0.642		NA											False	0	False	5:140774356	0
RALGAPA2	57186	broad.mit.edu	37	20	20493321	20493321	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:20493321A>C	ENST00000202677.7	-	32	4699	c.4692T>G	c.(4690-4692)atT>atG	p.I1564M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	NA					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTTGGCGCAAAATGACCTCAA	0.473		NA											False	0	True	20:20493321	0
PIGS	94005	broad.mit.edu	37	17	26881272	26881272	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:26881272C>T	ENST00000308360.7	-	12	2009	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	PIGS_ENST00000395346.2_Missense_Mutation_p.R537H|PIGS_ENST00000543734.1_Missense_Mutation_p.R484H	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	545					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCAGGACTTGCGGGTCTCCAG	0.547		NA											False	0	True	17:26881272	0
GRIK3	2899	broad.mit.edu	37	1	37282815	37282815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:37282815G>A	ENST00000373091.3	-	13	1953	c.1937C>T	c.(1936-1938)aCg>aTg	p.T646M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T646M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	646					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GATGATGAGCGTGAAGAACCA	0.547		NA											False	0	False	1:37282815	0
DDX10	1662	broad.mit.edu	37	11	108546412	108546412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:108546412G>A	ENST00000526794.1	+	3	369	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DDX10_ENST00000322536.3_Missense_Mutation_p.A113T			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	113	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.A113T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACTTGGAGCGGCCAAAACTGG	0.438		NA	T	NUP98	AML*								False	0	False	11:108546412	0
CSMD1	64478	broad.mit.edu	37	8	3165343	3165343	+	Splice_Site	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:3165343G>A	ENST00000520002.1	-	26	4382	c.3827C>T	c.(3826-3828)gCg>gTg	p.A1276V	CSMD1_ENST00000542608.1_Splice_Site_p.A1275V|CSMD1_ENST00000537824.1_Splice_Site_p.A1275V|CSMD1_ENST00000400186.3_Splice_Site_p.A1276V|CSMD1_ENST00000602557.1_Splice_Site_p.A1276V|CSMD1_ENST00000539096.1_Splice_Site_p.A1275V|CSMD1_ENST00000602723.1_Splice_Site_p.A1276V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1276	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCACATTCCGCTGTAGAAGA	0.448		NA											False	0	False	8:3165343	0
SPATA31D5P	0	broad.mit.edu	37	9	84533044	84533044	+	RNA	SNP	T	T	C	rs530720	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:84533044T>C	ENST00000527857.1	+	0	3066					NR_026851.1					NA											NA						TTTTCTGATATTGACCATGAC	0.458		NA											False	0	False	9:84533044	0
COL5A1	1289	broad.mit.edu	37	9	137658318	137658318	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:137658318G>C	ENST00000371817.3	+	22	2521	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	703	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGTATGGACGGCCAGCCGGG	0.542		NA											False	0	False	9:137658318	0
POLM	27434	broad.mit.edu	37	7	44112788	44112788	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:44112788T>G	ENST00000395831.3	-	9	1446	c.1400A>C	c.(1399-1401)cAc>cCc	p.H467P	POLM_ENST00000242248.5_3'UTR|POLM_ENST00000335195.6_3'UTR	NM_001284330.1	NP_001271259.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	0					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CGGGGAGGGGTGAAGGTGGGG	0.632		NA						DNA polymerases (catalytic subunits)					False	0	True	7:44112788	0
ZNF578	147660	broad.mit.edu	37	19	53015104	53015104	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:53015104G>C	ENST00000421239.2	+	6	1714	c.1470G>C	c.(1468-1470)aaG>aaC	p.K490N	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				NA				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGTGTCACAAGACCTTCAGTC	0.393		NA											False	0	False	19:53015104	0
HAP1	9001	broad.mit.edu	37	17	39883349	39883349	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:39883349C>T	ENST00000393939.2	-	8	1257	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	HAP1_ENST00000347901.4_Silent_p.T441T|HAP1_ENST00000341193.5_Silent_p.T424T|HAP1_ENST00000310778.5_Silent_p.T493T|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	418	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCCTTAGAGACGTTCTGAGCT	0.577		NA											False	0	False	17:39883349	0
PTK2B	2185	broad.mit.edu	37	8	27288476	27288476	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:27288476C>T	ENST00000397501.1	+	13	1561	c.753C>T	c.(751-753)ttC>ttT	p.F251F	PTK2B_ENST00000346049.5_Silent_p.F251F|PTK2B_ENST00000517339.1_Silent_p.F251F|PTK2B_ENST00000544172.1_Silent_p.F251F|PTK2B_ENST00000397497.4_5'UTR|PTK2B_ENST00000420218.2_Silent_p.F251F|PTK2B_ENST00000338238.4_Silent_p.F251F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	251	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGAAGTTCTTCAACACTCTCG	0.577		NA											False	0	False	8:27288476	0
VN1R4	317703	broad.mit.edu	37	19	53770125	53770125	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:53770125A>G	ENST00000311170.4	-	1	847	c.794T>C	c.(793-795)tTa>tCa	p.L265S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	265					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTTCACCAGTAAACTATTGGG	0.453		NA								HNSCC(26;0.072)			False	0	True	19:53770125	0
ASB15	142685	broad.mit.edu	37	7	123270139	123270139	+	Silent	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:123270139A>G	ENST00000451558.1	+	13	2081	c.1560A>G	c.(1558-1560)gtA>gtG	p.V520V	ASB15_ENST00000434204.1_Silent_p.V520V|ASB15_ENST00000451215.1_Silent_p.V520V|ASB15_ENST00000275699.3_Silent_p.V520V|ASB15_ENST00000540573.1_Silent_p.V520V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	520					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CACTAGAAGTACAGAGAGAAT	0.368		NA											False	0	False	7:123270139	0
CACNA2D3	55799	broad.mit.edu	37	3	54798357	54798357	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:54798357C>T	ENST00000474759.1	+	13	1407	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	CACNA2D3_ENST00000288197.5_Silent_p.T453T|CACNA2D3_ENST00000415676.2_Silent_p.T453T|CACNA2D3_ENST00000490478.1_Silent_p.T359T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	453	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGTGTGGACCGAAGCTTACA	0.507		NA											False	0	False	3:54798357	0
SNHG14	0	broad.mit.edu	37	15	25324229	25324229	+	RNA	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:25324229G>T	ENST00000549804.2	+	0	1377				SNORD116-13_ENST00000384408.1_RNA						NA											NA						TTCCATACATGCATTCCTTGG	0.418		NA											False	0	False	15:25324229	0
GLRA2	2742	broad.mit.edu	37	X	14708830	14708830	+	Splice_Site	SNP	A	A	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:14708830A>T	ENST00000218075.4	+	8	1460		c.e8-1		GLRA2_ENST00000443437.2_Splice_Site|GLRA2_ENST00000355020.4_Splice_Site	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	NA					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	tctctctctcAGGTCTCCTAT	0.483		NA											False	0	True	X:14708830	0
ZBTB3	79842	broad.mit.edu	37	11	62519604	62519604	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:62519604C>T	ENST00000394807.3	-	2	1808	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CTTTAGGTGGCCCTCCACCAC	0.537		NA											False	0	True	11:62519604	0
ZC2HC1A	51101	broad.mit.edu	37	8	79627512	79627512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:79627512C>T	ENST00000263849.4	+	8	863	c.761C>T	c.(760-762)cCa>cTa	p.P254L		NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	254											NA						AATCCTGCCCCAGGTGTGCTT	0.368		NA											False	0	True	8:79627512	0
SLC12A3	0	broad.mit.edu	37	16	56920970	56920970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:56920970G>A	ENST00000438926.2	+	17	2172	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	SLC12A3_ENST00000566786.1_Missense_Mutation_p.E714K|SLC12A3_ENST00000262502.5_Missense_Mutation_p.E714K|SLC12A3_ENST00000563236.1_Missense_Mutation_p.E715K	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	715					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGTCATTGCCGAGGACCTCCG	0.587		NA											False	0	False	16:56920970	0
DUSP16	80824	broad.mit.edu	37	12	12629995	12629995	+	Silent	SNP	G	G	A	rs145763524		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr12:12629995G>A	ENST00000228862.2	-	7	2401	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	590					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTTGGTCTCCGCAAGTGGGCA	0.562		NA											False	0	False	12:12629995	0
OR8K5	219453	broad.mit.edu	37	11	55927158	55927158	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:55927158C>T	ENST00000313447.1	-	1	635	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTAAGACTATCAGAAAGGAGG	0.378		NA											False	0	False	11:55927158	0
KCNB1	3745	broad.mit.edu	37	20	47990860	47990860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:47990860C>T	ENST00000371741.4	-	2	1403	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	413					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGTTATTGACGATGATGGGG	0.507		NA											False	0	False	20:47990860	0
CCDC147	159686	broad.mit.edu	37	10	106207500	106207500	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:106207500C>T	ENST00000369704.3	+	16	2435	c.2301C>T	c.(2299-2301)cgC>cgT	p.R767R		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	767										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCTTGGCCCGCCAGCCTGGAC	0.537		NA											False	0	False	10:106207500	0
BDP1	55814	broad.mit.edu	37	5	70840231	70840231	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:70840231C>A	ENST00000358731.4	+	31	6723	c.6460C>A	c.(6460-6462)Ctc>Atc	p.L2154I	BDP1_ENST00000380675.2_Missense_Mutation_p.L290I	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2154					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAATAAAAACCTCGGACCAGT	0.358		NA											False	0	False	5:70840231	0
DDO	8528	broad.mit.edu	37	6	110714483	110714483	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:110714483G>A	ENST00000368924.3	-	5	620	c.605C>T	c.(604-606)cCg>cTg	p.P202L	DDO_ENST00000368923.3_Missense_Mutation_p.P143L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	174					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTCAAAGGACGGATGAAGTTC	0.502		NA											False	0	False	6:110714483	0
IGHA2	0	broad.mit.edu	37	14	106054661	106054661	+	RNA	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr14:106054661G>A	ENST00000390539.2	-	0	71										NA											NA						CCAGGCATGCGACGACCACGT	0.632		NA											False	0	False	14:106054661	0
C4orf21	55345	broad.mit.edu	37	4	113460845	113460845	+	Splice_Site	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:113460845C>T	ENST00000505019.1	-	28	6298	c.6173G>A	c.(6172-6174)gGa>gAa	p.G2058E	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATCTTCCCTTCCTTAAAAAAA	0.373		NA											False	0	True	4:113460845	0
BAGE2	85319	broad.mit.edu	37	21	11058327	11058327	+	RNA	SNP	A	A	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr21:11058327A>T	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2	NA											NA			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACATCGCTGAAAGGGGTAAA	0.378		NA											False	0	True	21:11058327	0
RET	5979	broad.mit.edu	37	10	43596003	43596003	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:43596003G>A	ENST00000355710.3	+	2	402	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	RET_ENST00000340058.5_Missense_Mutation_p.R57Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	57					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CATGCCCTGCGGGACGCCCCT	0.622		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	True	10:43596003	0
PCDHGB7	0	broad.mit.edu	37	5	140797472	140797472	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140797472G>A	ENST00000398594.2	+	1	46	c.46G>A	c.(46-48)Gta>Ata	p.V16I	PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018927.3	NP_061750.1				NA										central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cccgcggcAGGTACTATTTCC	0.642		NA									OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:140797472	0
HOXD1	3231	broad.mit.edu	37	2	177054575	177054575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:177054575C>T	ENST00000331462.4	+	2	915	c.692C>T	c.(691-693)gCg>gTg	p.A231V		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCCTCCAGCGCGATCCGCACG	0.557		NA											False	0	False	2:177054575	0
NXPH1	30010	broad.mit.edu	37	7	8790918	8790918	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:8790918C>T	ENST00000405863.1	+	3	1246	c.335C>T	c.(334-336)aCg>aTg	p.T112M	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	112	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATTGTTAAAACGGGCAAGTTT	0.473		NA											False	0	True	7:8790918	0
CILP2	148113	broad.mit.edu	37	19	19655205	19655205	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:19655205G>A	ENST00000586018.1	+	8	1971	c.1869G>A	c.(1867-1869)tcG>tcA	p.S623S	CILP2_ENST00000291495.5_Silent_p.S617S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	617						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCTCACCTCGGCGGCGTCTG	0.697		NA											False	0	False	19:19655205	0
CFTR	1080	broad.mit.edu	37	7	117171027	117171027	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:117171027A>C	ENST00000003084.6	+	4	480	c.348A>C	c.(346-348)gaA>gaC	p.E116D	CFTR_ENST00000454343.1_Missense_Mutation_p.E116D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	116	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACAAGGAGGAACGCTCTATCG	0.448		NA							Cystic Fibrosis				False	0	False	7:117171027	0
CSF2RA	0	broad.mit.edu	37	X	1428355	1428355	+	Missense_Mutation	SNP	G	G	A	rs139686363	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:1428355G>A	ENST00000381524.3	+	13	1372	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V396M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V396M|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V263M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V430M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R336H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	396						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGTCTTGACCGTGAAGGAAAT	0.527		NA											False	0	False	X:1428355	0
STRN3	29966	broad.mit.edu	37	14	31376184	31376184	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr14:31376184C>T	ENST00000355683.5	-	12	1750	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D	STRN3_ENST00000357479.5_Missense_Mutation_p.G596D	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	596					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATTTTTTATGCCACTATAAGC	0.368		NA											False	0	False	14:31376184	0
NPHS1	4868	broad.mit.edu	37	19	36322199	36322199	+	Splice_Site	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:36322199G>A	ENST00000378910.5	-	26	3385	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	NPHS1_ENST00000353632.6_Splice_Site_p.T1089M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1129					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCACTTACCGTGGAGCTCTG	0.607		NA											False	0	False	19:36322199	0
NOX4	50507	broad.mit.edu	37	11	89106611	89106611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:89106611C>T	ENST00000535633.1	-	12	1362	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000527626.1_Missense_Mutation_p.G209E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E|NOX4_ENST00000263317.4_Missense_Mutation_p.G375E|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	375	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.G375E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGTCCAGTCTCCTACTATTTT	0.279		NA											False	0	False	11:89106611	0
OR7D4	125958	broad.mit.edu	37	19	9325369	9325369	+	Missense_Mutation	SNP	C	C	T	rs112089905		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:9325369C>T	ENST00000308682.2	-	1	173	c.145G>A	c.(145-147)Gtc>Atc	p.V49I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCAGAGCTGACGGCCAGAATG	0.552		NA											False	0	False	19:9325369	0
TBC1D4	9882	broad.mit.edu	37	13	75886933	75886933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:75886933C>T	ENST00000377636.3	-	13	2670	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R712H|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R767H	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	775						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGGAAAATGCGCTGCCGCCA	0.522		NA											False	0	False	13:75886933	0
PCDHA6	0	broad.mit.edu	37	5	140209350	140209350	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140209350G>A	ENST00000529310.1	+	1	1788	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1				NA										NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACGAGAACGACAACG	0.687		NA											False	0	False	5:140209350	0
TRGC1	0	broad.mit.edu	37	7	38299789	38299789	+	RNA	SNP	A	A	G	rs117590081	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:38299789A>G	ENST00000443402.2	-	0	420					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1				NA											NA						GAGGAGGTACATGTAATATGC	0.423		NA											False	0	False	7:38299789	0
TUBB8P7	0	broad.mit.edu	37	16	90162304	90162304	+	RNA	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:90162304A>G	ENST00000564451.1	+	0	1657				TUBB8P7_ENST00000567960.1_RNA						NA											NA						CTGGCTCCCCAACAACGTAAA	0.502		NA											False	0	True	16:90162304	0
RETNLB	84666	broad.mit.edu	37	3	108474644	108474644	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:108474644C>T	ENST00000295755.6	-	3	515	c.317G>A	c.(316-318)cGc>cAc	p.R106H	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	106					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGGCAGCAGCGGGCAGTGGT	0.552		NA											False	0	True	3:108474644	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557		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	17:7578275	0
RCBTB2	1102	broad.mit.edu	37	13	49070346	49070346	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:49070346G>A	ENST00000344532.3	-	14	1919	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RCBTB2_ENST00000430805.2_Missense_Mutation_p.A504V|RCBTB2_ENST00000544492.1_Missense_Mutation_p.A225V	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	499	BTB 2.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ATACTTCACCGCAGCCGAGAG	0.478		NA											False	0	False	13:49070346	0
LILRB2	0	broad.mit.edu	37	19	54782813	54782813	+	Missense_Mutation	SNP	C	C	T	rs141001610	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:54782813C>T	ENST00000391748.1	-	6	936	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	270	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCTGCCGGCCAGGGAG	0.627		NA											False	0	False	19:54782813	0
TPSD1	23430	broad.mit.edu	37	16	1306311	1306311	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:1306311C>T	ENST00000211076.3	+	1	178	c.30C>T	c.(28-30)agC>agT	p.S10S	TPSD1_ENST00000397534.2_Silent_p.S3S	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	10					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AGATGCTGAGCCTGCTGCTGC	0.682		NA											False	0	True	16:1306311	0
OR1F1	4992	broad.mit.edu	37	16	3254568	3254568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:3254568G>A	ENST00000304646.2	+	1	322	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TTTCATGTTCGTGGACATGGA	0.502		NA											False	0	False	16:3254568	0
DOCK8	81704	broad.mit.edu	37	9	328114	328114	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:328114G>A	ENST00000432829.2	+	9	1099	c.783G>A	c.(781-783)gcG>gcA	p.A261A	DOCK8_ENST00000469391.1_Silent_p.A261A|DOCK8_ENST00000453981.1_Silent_p.A329A	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	329					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAAGTCAGGCGAGATCTGCAG	0.458		NA											False	0	False	9:328114	0
ZAP70	7535	broad.mit.edu	37	2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	rs150631046		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:98354224G>A	ENST00000264972.5	+	12	1702	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_ENST00000451498.2_Missense_Mutation_p.R189H|ZAP70_ENST00000442208.1_Missense_Mutation_p.R370H|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	496	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCAGGCCCGCTCAGCAGGG	0.627		NA											False	0	True	2:98354224	0
TGM7	116179	broad.mit.edu	37	15	43579655	43579655	+	Splice_Site	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:43579655T>C	ENST00000452443.2	-	6	692	c.688A>G	c.(688-690)Atc>Gtc	p.I230V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	230					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTGCTGTTGATCTGCAGAGGA	0.597		NA											False	0	False	15:43579655	0
HTR5A	3361	broad.mit.edu	37	7	154862765	154862765	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:154862765G>A	ENST00000287907.2	+	1	732	c.156G>A	c.(154-156)gcG>gcA	p.A52A	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Silent_p.A83A|HTR5A-AS1_ENST00000395731.2_Silent_p.A83A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	52						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCTGGTGGCGGCGACGTTCG	0.647		NA											False	0	False	7:154862765	0
SSX3	10214	broad.mit.edu	37	X	48209006	48209006	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:48209006G>A	ENST00000376893.3	-	7	576	c.483C>T	c.(481-483)taC>taT	p.Y161Y	SSX3_ENST00000376895.1_Intron|SSX3_ENST00000298396.2_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.Y161Y(1)		endometrium(3)|large_intestine(1)|lung(9)	13						cgaacctgcagtatctctgaa	0.413		NA											False	0	False	X:48209006	0
ALG1L	200810	broad.mit.edu	37	3	125648197	125648197	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:125648197A>G	ENST00000340333.3	-	6	725	c.562T>C	c.(562-564)Tga>Cga	p.*188R	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	0							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						GGCGCTGCTCAAAAGGGTTTG	0.572		NA											False	0	True	3:125648197	0
CHST1	8534	broad.mit.edu	37	11	45671352	45671352	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:45671352G>A	ENST00000308064.2	-	4	1792	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	374					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTGGCAGGCGTTCTGGGCAA	0.662		NA											False	0	False	11:45671352	0
ZNF727	442319	broad.mit.edu	37	7	63538568	63538568	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:63538568T>C	ENST00000550760.3	+	4	1320	c.1141T>C	c.(1141-1143)Tca>Cca	p.S381P		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TAAGTGGTTCTCAGACCTGAC	0.388		NA											False	0	False	7:63538568	0
RREB1	6239	broad.mit.edu	37	6	7229368	7229368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7229368G>T	ENST00000379938.2	+	10	1573	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.E346*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.E346*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.E346*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	346					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGGGTCAAGAAAAGCCGCA	0.632		NA											False	0	True	6:7229368	0
DNAH2	146754	broad.mit.edu	37	17	7680922	7680922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7680922G>A	ENST00000572933.1	+	33	6677	c.5217G>A	c.(5215-5217)tgG>tgA	p.W1739*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1739	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGACTGGCTCAGCCAAC	0.478		NA											False	0	False	17:7680922	0
TLL1	7092	broad.mit.edu	37	4	166978413	166978413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:166978413G>A	ENST00000061240.2	+	14	2445	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	TLL1_ENST00000507499.1_Missense_Mutation_p.A623T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	600	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTACCAGTGTGCCTGTGAGCC	0.512		NA											False	0	False	4:166978413	0
PHF10	55274	broad.mit.edu	37	6	170118958	170118958	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:170118958G>A	ENST00000339209.4	-	3	374	c.251C>T	c.(250-252)aCa>aTa	p.T84I	PHF10_ENST00000366780.4_Missense_Mutation_p.T84I|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	84					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GTATTCTCCTGTTTCATCAGG	0.313		NA											False	0	True	6:170118958	0
MST1L	0	broad.mit.edu	37	1	17085354	17085354	+	RNA	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:17085354C>T	ENST00000455405.2	-	0	13										NA											NA						CGTGTAGCACCAGGGCCCATG	0.602		NA											False	0	False	1:17085354	0
ZNF480	147657	broad.mit.edu	37	19	52825191	52825191	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:52825191C>T	ENST00000595962.1	+	5	754	c.688C>T	c.(688-690)Cct>Tct	p.P230S	ZNF480_ENST00000334564.7_Missense_Mutation_p.P187S|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.P153S|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTAGAGAAACCTTACAAATG	0.358		NA											False	0	True	19:52825191	0
TPTE2	93492	broad.mit.edu	37	13	20048175	20048175	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:20048175G>C	ENST00000400230.2	-	6	315	c.271C>G	c.(271-273)Ctc>Gtc	p.L91V	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.L91V|TPTE2_ENST00000382978.1_Missense_Mutation_p.L91V|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.L54V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91V|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	91						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGGCAAGGAGGAGAGTGACA	0.294		NA											False	0	False	13:20048175	0
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463		NA											False	0	False	10:129906577	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783726	149783726	+	Silent	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:149783726G>A	ENST00000427880.2	-	1	199	c.153C>T	c.(151-153)ccC>ccT	p.P51P	HIST2H2BF_ENST00000369167.1_Silent_p.P51P|HIST2H2BF_ENST00000545683.1_Silent_p.P51P|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	51					nucleosome assembly	nucleosome|nucleus	DNA binding	p.P51P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGCCGGTGTCGGGGTGGACCT	0.592		NA											False	0	True	1:149783726	0
TSPAN18	90139	broad.mit.edu	37	11	44931325	44931325	+	Missense_Mutation	SNP	G	G	A	rs138512957		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:44931325G>A	ENST00000340160.3	+	4	372	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	TSPAN18_ENST00000520358.2_Missense_Mutation_p.V45M	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	45						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CCGGGAGATCGTGGCTGCCAA	0.697		NA											False	0	False	11:44931325	0
CD33	945	broad.mit.edu	37	19	51728620	51728620	+	Missense_Mutation	SNP	C	C	T	rs138300409	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:51728620C>T	ENST00000262262.4	+	2	205	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R62W|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	62	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTACTGGTTCCGGGAAGGAGC	0.537		NA											False	0	True	19:51728620	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280266	39280266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:39280266G>A	ENST00000394014.1	-	1	153	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	37	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGGGCGGCAGCAGGTG	0.672		NA											False	0	False	17:39280266	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA											False	0	True	2:107049681	0
CLEC4M	10332	broad.mit.edu	37	19	7830661	7830661	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:7830661C>G	ENST00000327325.5	+	4	470	c.352C>G	c.(352-354)Cag>Gag	p.Q118E	CLEC4M_ENST00000248228.4_Missense_Mutation_p.Q118E|CLEC4M_ENST00000596363.1_Missense_Mutation_p.Q90E|CLEC4M_ENST00000359059.5_Missense_Mutation_p.Q97E|CLEC4M_ENST00000334806.5_Missense_Mutation_p.Q90E|CLEC4M_ENST00000595496.1_Missense_Mutation_p.Q97E|CLEC4M_ENST00000596707.1_Missense_Mutation_p.Q97E|CLEC4M_ENST00000357361.2_Missense_Mutation_p.Q118E|CLEC4M_ENST00000394122.2_Missense_Mutation_p.Q106E|CLEC4M_ENST00000597522.1_Missense_Mutation_p.Q118E	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	118	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GGAGCTGACCCAGCTGAAGGC	0.562		NA											False	0	True	19:7830661	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296662	39296662	+	Silent	SNP	A	A	G			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:39296662A>G	ENST00000345847.4	-	1	77	c.78T>C	c.(76-78)tgT>tgC	p.C26C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	26	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGTGGTCTGACAGCAGCTGG	0.642		NA											False	0	False	17:39296662	0
DNAH9	1770	broad.mit.edu	37	17	11650990	11650990	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:11650990C>T	ENST00000262442.4	+	32	6585	c.6517C>T	c.(6517-6519)Cgg>Tgg	p.R2173W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2173W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	NA	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2173W(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCATGAAACGGCGCCCCGT	0.542		NA											False	0	True	17:11650990	0
RREB1	6239	broad.mit.edu	37	6	7229365	7229365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7229365C>T	ENST00000379938.2	+	10	1570	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q345*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q345*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q345*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	345					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGACCAGGGTCAAGAAAAGCC	0.627		NA											False	0	False	6:7229365	0
STS	412	broad.mit.edu	37	X	7267976	7267976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:7267976G>A	ENST00000217961.4	+	10	1646	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	476					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTTCAACCCCGTGGGTTCCAA	0.473		NA							Ichthyosis				False	0	True	X:7267976	0
SSX3	10214	broad.mit.edu	37	X	48209018	48209018	+	Silent	SNP	G	G	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:48209018G>C	ENST00000376893.3	-	7	564	c.471C>G	c.(469-471)gtC>gtG	p.V157V	SSX3_ENST00000376895.1_Intron|SSX3_ENST00000298396.2_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						atctctgaaggacacctgTAT	0.418		NA											False	0	False	X:48209018	0
HMBS	3145	broad.mit.edu	37	11	118955763	118955763	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:118955763C>T	ENST00000278715.3	+	1	171	c.20C>T	c.(19-21)gCg>gTg	p.A7V	HMBS_ENST00000542729.1_5'UTR|HMBS_ENST00000442944.2_5'UTR|HMBS_ENST00000543090.1_Missense_Mutation_p.A7V|HMBS_ENST00000537841.1_5'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.A7V	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	7					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AACGGCAATGCGGCTGCAACG	0.667		NA											False	0	False	11:118955763	0
SLC1A3	6507	broad.mit.edu	37	5	36684084	36684084	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:36684084G>A	ENST00000265113.4	+	9	1884	c.1408G>A	c.(1408-1410)Gcg>Acg	p.A470T	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Intron	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	470					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GCTCATCATCGCGGTGGACTG	0.587		NA											False	0	False	5:36684084	0
GLE1	2733	broad.mit.edu	37	9	131295934	131295934	+	Splice_Site	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:131295934G>T	ENST00000309971.4	+	10	1561	c.1455G>T	c.(1453-1455)gtG>gtT	p.V485V	GLE1_ENST00000372770.4_Splice_Site_p.V485V|GLE1_ENST00000539582.1_Splice_Site_p.V231V|RP11-216B9.6_ENST00000434999.1_RNA	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	485					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGAAATTTGTGGTGAGAAACC	0.443		NA											False	0	False	9:131295934	0
PYGO1	26108	broad.mit.edu	37	15	55838323	55838323	+	Silent	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:55838323T>C	ENST00000302000.6	-	3	1252	c.1158A>G	c.(1156-1158)gcA>gcG	p.A386A	PYGO1_ENST00000563719.1_Silent_p.A386A	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	386					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATACTGCAGATGCTTCTGCAG	0.458		NA											False	0	False	15:55838323	0
CHSY3	337876	broad.mit.edu	37	5	129241297	129241297	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:129241297C>T	ENST00000305031.4	+	1	1133	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	259						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GTGGTTCATGCGCGCCGACGA	0.562		NA											False	0	True	5:129241297	0
KIAA0430	9665	broad.mit.edu	37	16	15728761	15728761	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:15728761C>T	ENST00000396368.3	-	4	1065	c.859G>A	c.(859-861)Gct>Act	p.A287T	KIAA0430_ENST00000602337.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A109T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A287T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A287T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	286						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CAGACTTTAGCCGCATCGATT	0.418		NA											False	0	False	16:15728761	0
GGT1	2678	broad.mit.edu	37	22	25016960	25016960	+	Missense_Mutation	SNP	C	C	T	rs151033935	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr22:25016960C>T	ENST00000400382.1	+	9	1411	c.656C>T	c.(655-657)aCg>aTg	p.T219M	GGT1_ENST00000400380.1_Missense_Mutation_p.T219M|GGT1_ENST00000248923.4_Missense_Mutation_p.T219M|GGT1_ENST00000406383.2_Missense_Mutation_p.T219M|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000400383.1_Missense_Mutation_p.T219M			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	219					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACCTACGAGACGCTGGCCATC	0.647		NA											False	0	False	22:25016960	0
CTBP2	1488	broad.mit.edu	37	10	126678151	126678151	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:126678151T>C	ENST00000309035.6	-	9	3024	c.2894A>G	c.(2893-2895)cAa>cGa	p.Q965R	CTBP2_ENST00000531469.1_Missense_Mutation_p.Q425R|CTBP2_ENST00000337195.5_Missense_Mutation_p.Q425R|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q493R|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q425R	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	425					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGAGGGCGCTTGGGAAGGATG	0.567		NA											False	0	True	10:126678151	0
OR1S1	219959	broad.mit.edu	37	11	57982249	57982249	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:57982249C>T	ENST00000309433.6	+	1	33	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TTCAGATCGGCAGAAATATGC	0.393		NA											False	0	False	11:57982249	0
MUC4	4585	broad.mit.edu	37	3	195515980	195515980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:195515980G>T	ENST00000463781.3	-	2	2930	c.2471C>A	c.(2470-2472)tCa>tAa	p.S824*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S824*|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	829	Ser-rich.				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)		CGTCTCTCCTGAGGTGGATAT	0.577		NA											False	0	False	3:195515980	0
OR1N2	138882	broad.mit.edu	37	9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517		NA											False	0	False	9:125316158	0
SLC6A19	340024	broad.mit.edu	37	5	1208876	1208876	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:1208876C>T	ENST00000304460.10	+	2	274	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	73					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCATGATCCCGTTCCTCATC	0.657		NA											False	0	True	5:1208876	0
LAMP2	0	broad.mit.edu	37	X	119576496	119576496	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:119576496G>T	ENST00000371335.4	-	7	1022	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	LAMP2_ENST00000200639.4_Missense_Mutation_p.L296M|LAMP2_ENST00000434600.2_Missense_Mutation_p.L296M|LAMP2_ENST00000538785.1_Missense_Mutation_p.L185M|LAMP2_ENST00000540603.1_Missense_Mutation_p.L249M	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	296	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACTTCCTTCAGATAAAATCGG	0.383		NA											False	0	False	X:119576496	0
CYP2F1	1572	broad.mit.edu	37	19	41633864	41633864	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGTACCTCACCGCCATCCTGC	0.647		NA											False	0	False	19:41633864	0
POLK	51426	broad.mit.edu	37	5	74893770	74893770	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:74893770T>C	ENST00000241436.4	+	15	2712	c.2540T>C	c.(2539-2541)aTg>aCg	p.M847T	POLK_ENST00000504026.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.M649T|POLK_ENST00000352007.5_Missense_Mutation_p.M649T|POLK_ENST00000380481.3_Missense_Mutation_p.M757T|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	847				M -> V (in Ref. 3; AAF23270).	DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCAGGATTGATGACAAAGTAC	0.244		NA						DNA polymerases (catalytic subunits)					False	0	False	5:74893770	0
INCENP	3619	broad.mit.edu	37	11	61897787	61897787	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:61897787C>T	ENST00000394818.3	+	4	990	c.788C>T	c.(787-789)tCc>tTc	p.S263F	INCENP_ENST00000278849.4_Missense_Mutation_p.S263F	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	263					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCGCAGGTCTCCCCTGGCCCA	0.652		NA											False	0	True	11:61897787	0
MEGF8	1954	broad.mit.edu	37	19	42873053	42873053	+	Silent	SNP	C	C	T			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:42873053C>T	ENST00000334370.4	+	36	6974	c.6339C>T	c.(6337-6339)gaC>gaT	p.D2113D	MEGF8_ENST00000251268.6_Silent_p.D2180D	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2180	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCCTGAGGACGAGTGTGCAA	0.612		NA											False	0	False	19:42873053	0
