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
ATRNL1	26033	broad.mit.edu	37	10	117221467	117221474	+	Frame_Shift_Del	DEL	TTATCAAT	TTATCAAT	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	TTATCAAT	TTATCAAT	-	-	TTATCAAT	TTATCAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:117221467_117221474delTTATCAAT	ENST00000355044.3	+	22	3465_3472	c.3339_3346delTTATCAAT	c.(3337-3348)gattatcaatttfs	p.YQF1114fs	ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.YQF165fs|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1114						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTGATTGATTATCAATTTACCTTCAG	0.322		NA											False	1	False	10:117221467	0
HMGCS2	3158	broad.mit.edu	37	1	120299899	120299900	+	Frame_Shift_Ins	INS	-	-	GTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:120299899_120299900insGTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT	ENST00000369406.3	-	5	1061_1062	c.1012_1013insATTTTTATTTTTTATTTTTTTAGGGACCAGGTCTCAC	c.(1012-1014)ttcfs	p.F338fs	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Frame_Shift_Ins_p.F296fs	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	338					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AACTCACCCGAAAGCCTCCAGC	0.535		NA											False	0	True	1:120299899	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
GOLGA8DP	0	broad.mit.edu	37	15	22709019	22709060	+	RNA	DEL	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	-	rs150718647	by1000genomes	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	-	-	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	CCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:22709019_22709060delCCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTC	ENST00000314246.8	-	0	1336_1377										NA											NA						CGGCCAGCTGCCGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTCCTGAAGCCTC	0.632		NA											False	1	False	15:22709019	0
RMI2	116028	broad.mit.edu	37	16	11444642	11444643	+	Frame_Shift_Ins	INS	-	-	TTTTT			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:11444642_11444643insTTTTT	ENST00000572173.1	+	5	895_896	c.250_251insTTTTT	c.(250-252)cctfs	p.P84fs	RMI2_ENST00000312499.5_Frame_Shift_Ins_p.P147fs|RMI2_ENST00000576027.1_3'UTR|RMI2_ENST00000381820.2_Frame_Shift_Ins_p.P84fs			Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	147					DNA replication	nucleus	DNA binding			endometrium(1)|kidney(1)|ovary(1)	3						CAGGAATATTCCTTAGAGTATG	0.396		NA											False	0	False	16:11444642	0
ABCC6	368	broad.mit.edu	37	16	16284067	16284068	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:16284067_16284068insGG	ENST00000205557.7	-	12	1617_1618	c.1588_1589insCC	c.(1588-1590)ctcfs	p.L530fs	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	530	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGAGAAGAGGAGGCCGGAGGTC	0.594		NA											False	2	False	16:16284067	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	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
COL1A1	1277	broad.mit.edu	37	17	48267045	48267062	+	In_Frame_Del	DEL	GGCCAGGAGGACCGACTC	GGCCAGGAGGACCGACTC	-	rs72653149		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GGCCAGGAGGACCGACTC	GGCCAGGAGGACCGACTC	-	-	GGCCAGGAGGACCGACTC	GGCCAGGAGGACCGACTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:48267045_48267062delGGCCAGGAGGACCGACTC	ENST00000225964.5	-	38	2763_2780	c.2645_2662delGAGTCGGTCCTCCTGGCC	c.(2644-2664)cgagtcggtcctcctggcccc>ccc	p.RVGPPG882del		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	882	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGC	0.61		NA	T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						False	1	False	17:48267045	0
MUC16	94025	broad.mit.edu	37	19	9090465	9090513	+	Frame_Shift_Del	DEL	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	-	-	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:9090465_9090513delTTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	ENST00000397910.4	-	1	1505_1553	c.1302_1350delTACATCTATGACTCCACTTGAGACCTCTGCTCCTGGAGAAGAGTCCGAA	c.(1300-1350)aatacatctatgactccacttgagacctctgctcctggagaagagtccgaafs	p.NTSMTPLETSAPGEESE434fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	434	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T435K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCAGTCATTTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTATTCAAAGTTC	0.486		NA											False	1	False	19:9090465	0
PHF21B	112885	broad.mit.edu	37	22	45309867	45309915	+	Frame_Shift_Del	DEL	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	-	rs151004825	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	-	-	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr22:45309867_45309915delAGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	ENST00000313237.5	-	5	768_816	c.618_666delCCACCCCTCCTCTCTTCCCCTCACCCCTCCCTCCCCATCACTGTCCCCT	c.(616-666)ctccacccctcctctcttcccctcacccctccctccccatcactgtcccctfs	p.LHPSSLPLTPPSPSLSP206fs	PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	206							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		ggaggggtgaaggggacagtgatggggagggaggggtgaggggaagagaggaggggtggaggggacagt	0.647		NA											False	1	True	22:45309867	0
FER1L5	90342	broad.mit.edu	37	2	97365699	97365721	+	RNA	DEL	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	-	-	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:97365699_97365721delGCCCCCAAGCTACCTCCTAGAAC	ENST00000457909.1	+	0	4315_4337							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGGATCAGATGCCCCCAAGCTACCTCCTAGAACGCTATGCCAA	0.529		NA											False	1	False	2:97365699	0
NBPF3	84224	broad.mit.edu	37	1	21798122	21798123	+	In_Frame_Ins	INS	-	-	GAT			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:21798122_21798123insGAT	ENST00000318220.6	+	8	1387_1388	c.339_340insGAT	c.(340-342)cag>GATcag	p.113_114insD	NBPF3_ENST00000454000.2_In_Frame_Ins_p.99_100insD|NBPF3_ENST00000342104.5_In_Frame_Ins_p.169_170insD|NBPF3_ENST00000318249.5_In_Frame_Ins_p.169_170insD			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	169						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGAGAAGTTACAGGAAGGGAG	0.52		NA											False	0	False	1:21798122	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	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
SLC6A3	6531	broad.mit.edu	37	5	1432653	1432653	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:1432653delA	ENST00000270349.9	-	4	706	c.579delT	c.(577-579)catfs	p.H193fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.H193fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	193					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGTCACCAGGATGGGCATCCG	0.597		NA											False	1	False	5:1432653	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
SESN1	27244	broad.mit.edu	37	6	109309803	109309828	+	Frame_Shift_Del	DEL	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	-	-	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA	ENST00000436639.2	-	9	2232_2257	c.1487_1512delTCAAAACTGTTGTTTGCACTCCTGAA	c.(1486-1512)atcaaaactgttgtttgcactcctgaafs	p.IKTVVCTPE496fs	SESN1_ENST00000302071.2_Frame_Shift_Del_p.IKTVVCTPE371fs|SESN1_ENST00000356644.7_Frame_Shift_Del_p.IKTVVCTPE437fs	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	437					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		p.E504Q(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGGTAACCTTTTCAGGAGTGCAAACAACAGTTTTGATATAAACTTT	0.341		NA											False	1	True	6:109309803	0
ZNF117	51351	broad.mit.edu	37	7	64439374	64439457	+	In_Frame_Del	DEL	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	-	rs145373826	by1000genomes	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	-	-	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:64439374_64439457delGGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	ENST00000282869.5	-	4	1776_1859	c.492_575delTTACAAATGTAAAGAATGTGGCAAAGCCTTTAACCAGACCTCACACCTTATTAGACATAAGAGAATTCATACTGAAGAGAAACC	c.(490-576)ccttacaaatgtaaagaatgtggcaaagcctttaaccagacctcacaccttattagacataagagaattcatactgaagagaaaccc>ccc	p.164_192PYKCKECGKAFNQTSHLIRHKRIHTEEKP>P		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	164						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R185I(2)|p.H183L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ACATTTGTAGGGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAAGGTTTTTCTC	0.359		NA											False	1	False	7:64439374	0
SLC26A3	1811	broad.mit.edu	37	7	107432381	107432382	+	Frame_Shift_Ins	INS	-	-	CACATTGTTTTTTCCTTATG			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:107432381_107432382insCACATTGTTTTTTCCTTATG	ENST00000340010.5	-	4	459_460	c.275_276insCATAAGGAAAAAACAATGTG	c.(274-276)ttafs	p.L92fs	SLC26A3_ENST00000422236.2_Frame_Shift_Ins_p.L57fs	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAGCAAATGCTAAACCTGTAAA	0.421		NA											False	0	True	7:107432381	0
AQP7	364	broad.mit.edu	37	9	33395132	33395132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:33395132delG	ENST00000539936.1	-	3	326	c.88delC	c.(88-90)cagfs	p.Q30fs	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	30					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ATCTTCCTCTGCAGTATTTCC	0.572		NA											False	1	False	9:33395132	0
FCGBP	8857	broad.mit.edu	37	19	40424379	40424379	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:40424379G>A	ENST00000221347.6	-	4	1831	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	608	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGCCCGCACACCTGGT	0.617		NA											False	0	True	19:40424379	0
IZUMO1	284359	broad.mit.edu	37	19	49245529	49245529	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:49245529G>C	ENST00000332955.2	-	7	1084	c.537C>G	c.(535-537)atC>atG	p.I179M		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	179	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CACAGTCCAGGATCATGTCTT	0.478		NA											False	0	False	19:49245529	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	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
OR1S2	219958	broad.mit.edu	37	11	57970714	57970714	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57970714G>A	ENST00000302592.6	-	1	939	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCTTTCTCAGGGCACCTTTC	0.418		NA											False	0	True	11:57970714	0
KCNA4	3739	broad.mit.edu	37	11	30032887	30032887	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:30032887G>A	ENST00000328224.6	-	2	2572	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	447						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CGGACCAGACGAATGATTCTG	0.587		NA											False	0	False	11:30032887	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528872	77528872	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:77528872A>G	ENST00000477717.1	+	5	1227	c.992A>G	c.(991-993)gAg>gGg	p.E331G		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	331					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AATCATCCTGAGAATAAACCT	0.433		NA											False	0	False	1:77528872	0
PPP3R2	5535	broad.mit.edu	37	9	104357018	104357018	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:104357018G>A	ENST00000374806.1	-	1	265	c.195C>T	c.(193-195)ttC>ttT	p.F65F	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	62	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CGTCGGTGTCGAAGACGTCGA	0.577		NA											False	0	False	9:104357018	0
KMT2A	4297	broad.mit.edu	37	11	118375293	118375293	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:118375293C>A	ENST00000534358.1	+	27	8709	c.8686C>A	c.(8686-8688)Ctt>Att	p.L2896I	KMT2A_ENST00000389506.5_Missense_Mutation_p.L2893I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2855I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A	NA											NA						AGACATGGGTCTTTTTGAAGT	0.453		NA											False	0	True	11:118375293	0
FBN1	2200	broad.mit.edu	37	15	48766481	48766481	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:48766481C>G	ENST00000316623.5	-	34	4636	c.4181G>C	c.(4180-4182)gGa>gCa	p.G1394A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1394	EGF-like 23; calcium-binding.		Missing (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCTGTGTATCCTTCCTTGCA	0.473		NA											False	0	True	15:48766481	0
C10orf76	79591	broad.mit.edu	37	10	103792843	103792843	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:103792843G>C	ENST00000370033.4	-	4	365	c.246C>G	c.(244-246)ttC>ttG	p.F82L	C10orf76_ENST00000311122.5_Missense_Mutation_p.F82L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	82						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TGCAGTGTTGGAATAAGCAAT	0.453		NA											False	0	False	10:103792843	0
TBX19	9095	broad.mit.edu	37	1	168262442	168262442	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168262442G>C	ENST00000367821.3	+	3	580	c.529G>C	c.(529-531)Gcc>Ccc	p.A177P		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	177					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGTTGGAAGTGCCCATCGAAT	0.463		NA											False	0	True	1:168262442	0
RPL15	6138	broad.mit.edu	37	3	23959499	23959499	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:23959499G>C	ENST00000307839.5	+	2	788	c.149G>C	c.(148-150)cGa>cCa	p.R50P	RPL15_ENST00000354811.5_Missense_Mutation_p.R50P|RPL15_ENST00000456530.2_Missense_Mutation_p.R50P|RPL15_ENST00000415719.1_Missense_Mutation_p.R50P|RPL15_ENST00000413699.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Missense_Mutation_p.R50P	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	50					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAGCGCGCCGACTGGGCTAC	0.557		NA											False	0	False	3:23959499	0
FNDC3B	64778	broad.mit.edu	37	3	172028627	172028627	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:172028627G>C	ENST00000336824.4	+	11	1309	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	FNDC3B_ENST00000415807.2_Missense_Mutation_p.D404H|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D404H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	404	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGCACCAATTGACAACGGTTC	0.343		NA											False	0	False	3:172028627	0
DOCK2	1794	broad.mit.edu	37	5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:169267840G>A	ENST00000256935.8	+	27	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	928					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATGGGCCGGGATCACATT	0.453		NA											False	0	True	5:169267840	0
RCOR1	23186	broad.mit.edu	37	14	103180896	103180896	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:103180896C>T	ENST00000262241.6	+	8	1221	c.995C>T	c.(994-996)aCt>aTt	p.T332I	RCOR1_ENST00000570597.1_Missense_Mutation_p.T329I	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	329	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GCCAATGCCACTGCTGCTACC	0.413		NA											False	0	False	14:103180896	0
MYH15	22989	broad.mit.edu	37	3	108149680	108149680	+	Splice_Site	SNP	T	T	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:108149680T>G	ENST00000273353.3	-	27	3427	c.3371A>C	c.(3370-3372)cAg>cCg	p.Q1124P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1124						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTGATTACCTGAAGCTCTTT	0.368		NA											False	0	False	3:108149680	0
PLEKHB1	58473	broad.mit.edu	37	11	73364058	73364058	+	Splice_Site	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:73364058C>G	ENST00000354190.5	+	5	820	c.389C>G	c.(388-390)cCg>cGg	p.P130R	PLEKHB1_ENST00000227214.6_Splice_Site_p.P111R|PLEKHB1_ENST00000543085.1_Splice_Site_p.P60R|PLEKHB1_ENST00000398494.4_Splice_Site_p.P111R|PLEKHB1_ENST00000398492.4_Splice_Site_p.P130R|PLEKHB1_ENST00000535129.1_Splice_Site_p.P111R	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	130					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						AACTCCACCCCGGTGAGTCTC	0.582		NA											False	0	True	11:73364058	0
PRUNE2	158471	broad.mit.edu	37	9	79318726	79318726	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:79318726G>A	ENST00000428286.1	-	9	7926	c.6726C>T	c.(6724-6726)gcC>gcT	p.A2242A	PRUNE2_ENST00000376718.3_Silent_p.A2601A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2601					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATTTAAGGAGGCTGGCTGAC	0.428		NA											False	0	True	9:79318726	0
GALNT16	57452	broad.mit.edu	37	14	69791503	69791503	+	Nonsense_Mutation	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:69791503A>T	ENST00000337827.4	+	3	757	c.430A>T	c.(430-432)Aag>Tag	p.K144*	GALNT16_ENST00000448469.3_Nonsense_Mutation_p.K144*|GALNT16_ENST00000553669.1_Nonsense_Mutation_p.K144*	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16	NA											NA						GCGCACAGTGAAGAGGTAAGT	0.602		NA											False	0	False	14:69791503	0
DSG2	1829	broad.mit.edu	37	18	29116237	29116237	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr18:29116237T>G	ENST00000261590.8	+	11	1705	c.1496T>G	c.(1495-1497)cTg>cGg	p.L499R		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	499	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTCCCACACTGATAGAGCCT	0.428		NA											False	0	False	18:29116237	0
STARD3	0	broad.mit.edu	37	17	37817295	37817295	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:37817295G>A	ENST00000336308.5	+	13	1314	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	STARD3_ENST00000394250.4_Missense_Mutation_p.A348T|STARD3_ENST00000580611.1_Missense_Mutation_p.A340T|STARD3_ENST00000544210.2_Missense_Mutation_p.A366T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	366	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCAGGGATCGCCACCTCACA	0.617		NA											False	0	False	17:37817295	0
CSMD2	114784	broad.mit.edu	37	1	34383705	34383705	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:34383705A>T	ENST00000373381.4	-	5	1086	c.910T>A	c.(910-912)Tcc>Acc	p.S304T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	264	CUB 2.					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)				CAGAGGGAGGAGCCTTCTGTC	0.537		NA											False	0	True	1:34383705	0
SPATA31E1	286234	broad.mit.edu	37	9	90501079	90501079	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:90501079C>T	ENST00000325643.5	+	4	1743	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1	NA											NA						CACAGTCTGTCATCCCCACTG	0.547		NA											False	0	False	9:90501079	0
MIR19B2	0	broad.mit.edu	37	X	133303764	133303764	+	RNA	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chrX:133303764C>T	ENST00000385077.2	-	0	33					NR_029491.1					NA											NA						CGCTGAAATGCAAACCTGCAA	0.388		NA											False	0	True	X:133303764	0
TMEM248	55069	broad.mit.edu	37	7	66410195	66410195	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:66410195G>A	ENST00000341567.4	+	3	647	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_017994.4	NP_060464.1			transmembrane protein 248	NA											NA						GGGTATTCCCGCAACGTCACC	0.557		NA											False	0	True	7:66410195	0
ZCCHC11	23318	broad.mit.edu	37	1	52933891	52933891	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:52933891A>G	ENST00000371544.3	-	15	3189	c.2927T>C	c.(2926-2928)tTa>tCa	p.L976S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L976S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	976					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAAGCCAATTAAAATTTGCTC	0.308		NA											False	0	True	1:52933891	0
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557		NA											False	0	True	20:34241168	0
VAV1	7409	broad.mit.edu	37	19	6829851	6829851	+	Silent	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:6829851C>G	ENST00000304076.2	+	14	1414	c.1320C>G	c.(1318-1320)tcC>tcG	p.S440S	VAV1_ENST00000596764.1_Silent_p.S408S|VAV1_ENST00000602142.1_Silent_p.S440S|VAV1_ENST00000539284.1_Silent_p.S343S|VAV1_ENST00000599806.1_Silent_p.S385S	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	440	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGGGAGACTCCTATGACCTCA	0.527		NA											False	0	False	19:6829851	0
ZSCAN20	7579	broad.mit.edu	37	1	33957115	33957115	+	Silent	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:33957115T>C	ENST00000361328.3	+	6	1410	c.1257T>C	c.(1255-1257)gaT>gaC	p.D419D	ZSCAN20_ENST00000373413.2_Silent_p.D365D	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	419					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGCCACAGATGGCCCAGGAG	0.607		NA											False	0	False	1:33957115	0
OR51A7	119687	broad.mit.edu	37	11	4928955	4928955	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:4928955C>A	ENST00000359350.4	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTAATTATGTCTTTGGACCGC	0.403		NA											False	0	True	11:4928955	0
ZNF215	7762	broad.mit.edu	37	11	6953847	6953847	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:6953847A>G	ENST00000278319.5	+	3	932	c.344A>G	c.(343-345)aAc>aGc	p.N115S	ZNF215_ENST00000414517.2_Missense_Mutation_p.N115S|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.N115S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	115	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CATCCAAACAACAGTAAAGAT	0.378		NA											False	0	False	11:6953847	0
ABRA	137735	broad.mit.edu	37	8	107782407	107782407	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107782407G>A	ENST00000311955.3	-	1	66	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	4					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTCCTTTTCGCCCGGAGCCA	0.592		NA											False	0	True	8:107782407	0
WSB2	55884	broad.mit.edu	37	12	118481162	118481162	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:118481162G>C	ENST00000315436.3	-	3	344	c.203C>G	c.(202-204)gCc>gGc	p.A68G	WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.A70G|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.A85G	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	68					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGGCTTTTGGCTTCAAACCC	0.493		NA											False	0	False	12:118481162	0
EPS8	0	broad.mit.edu	37	12	15807213	15807213	+	Silent	SNP	T	T	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:15807213T>G	ENST00000281172.5	-	13	1552	c.1116A>C	c.(1114-1116)acA>acC	p.T372T	EPS8_ENST00000543612.1_Silent_p.T372T|EPS8_ENST00000542903.1_Silent_p.T112T|EPS8_ENST00000540613.1_Silent_p.T112T|EPS8_ENST00000543523.1_Silent_p.T372T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	372					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGGACCTCCTGTTGCCTGCA	0.373		NA											False	0	False	12:15807213	0
FBXL6	26233	broad.mit.edu	37	8	145580308	145580308	+	Silent	SNP	G	G	A	rs148685592		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:145580308G>A	ENST00000331890.5	-	6	1009	c.945C>T	c.(943-945)ccC>ccT	p.P315P	FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.P309P	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	315					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCAGCTGAAGGGGAATGCTAT	0.647		NA											False	0	True	8:145580308	0
OR9Q2	219957	broad.mit.edu	37	11	57958767	57958767	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57958767G>A	ENST00000311591.3	+	1	862	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E269K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCAGTCCTCCGAGGGAGACCG	0.552		NA											False	0	False	11:57958767	0
CCDC41	51134	broad.mit.edu	37	12	94761622	94761622	+	Missense_Mutation	SNP	G	G	A	rs111647062		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:94761622G>A	ENST00000397809.5	-	11	1840	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W|CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	423										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTGAAGCCCGCAATTTCTCT	0.373		NA											False	0	True	12:94761622	0
GALNT5	11227	broad.mit.edu	37	2	158157419	158157419	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:158157419C>G	ENST00000259056.4	+	7	2832	c.2347C>G	c.(2347-2349)Ctg>Gtg	p.L783V	GALNT5_ENST00000463418.1_3'UTR	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	783					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCAAAGGGAGCTGCGAAAGAA	0.498		NA											False	0	False	2:158157419	0
NGF	4803	broad.mit.edu	37	1	115828736	115828736	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:115828736C>T	ENST00000369512.2	-	3	849	c.681G>A	c.(679-681)acG>acA	p.T227T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	227					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACACACAGGCCGTATCTATCC	0.587		NA											False	0	False	1:115828736	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572		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	17:7577559	0
POTEE	445582	broad.mit.edu	37	2	131984442	131984442	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:131984442A>C	ENST00000356920.5	+	4	951	c.857A>C	c.(856-858)cAa>cCa	p.Q286P	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.Q296P|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	286							ATP binding				NA						CAAAAACAGCAAGTCGTGAAA	0.328		NA											False	0	False	2:131984442	0
CYP1A1	1543	broad.mit.edu	37	15	75014944	75014944	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:75014944C>A	ENST00000379727.3	-	2	693	c.495G>T	c.(493-495)aaG>aaT	p.K165N	CYP1A1_ENST00000395048.2_Missense_Mutation_p.K165N|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K165N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.K165N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	165					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CCTCAGCCTCCTTGCTCACAT	0.572		NA							Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				False	0	False	15:75014944	0
C16orf45	89927	broad.mit.edu	37	16	15677014	15677014	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:15677014G>C	ENST00000300006.4	+	5	780	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000452191.2_Splice_Site_p.E124Q|C16orf45_ENST00000561692.1_Splice_Site_p.E93Q|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	141										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						CTTTCACAGGGAGCAAGAAGA	0.378		NA											False	0	True	16:15677014	0
ARHGAP19-SLIT1	0	broad.mit.edu	37	10	99024599	99024599	+	Silent	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:99024599A>T	ENST00000453547.2	-	3	386	c.387T>A	c.(385-387)atT>atA	p.I129I	ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.I129I|ARHGAP19_ENST00000355366.5_Silent_p.I120I|ARHGAP19_ENST00000371027.1_Silent_p.I120I|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.I129I|ARHGAP19_ENST00000358531.4_Silent_p.I129I						NA											NA						GTAGATACTCAATCAGTTGGT	0.368		NA											False	0	False	10:99024599	0
FLG	2312	broad.mit.edu	37	1	152275642	152275642	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152275642C>T	ENST00000368799.1	-	3	11755	c.11720G>A	c.(11719-11721)cGc>cAc	p.R3907H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGTATCGCGGTGAGAGGA	0.502		NA							Ichthyosis				False	0	False	1:152275642	0
ERI1	90459	broad.mit.edu	37	8	8875864	8875864	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:8875864A>T	ENST00000523898.1	+	6	1319	c.640A>T	c.(640-642)Atg>Ttg	p.M214L	ERI1_ENST00000519292.1_Missense_Mutation_p.M214L|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Missense_Mutation_p.M214L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	214	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	AATTGACTGGATGAAATTGAA	0.308		NA											False	0	False	8:8875864	0
SHANK1	50944	broad.mit.edu	37	19	51200361	51200361	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:51200361G>A	ENST00000293441.1	-	14	1974	c.1956C>T	c.(1954-1956)ggC>ggT	p.G652G	SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Silent_p.G652G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	652					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTCCCTGGGCCAATCCCAT	0.647		NA											False	0	True	19:51200361	0
SDK2	54549	broad.mit.edu	37	17	71381998	71381998	+	Silent	SNP	T	T	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:71381998T>A	ENST00000392650.3	-	32	4557	c.4557A>T	c.(4555-4557)ctA>ctT	p.L1519L	SDK2_ENST00000388726.3_Silent_p.L1519L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1519	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCATCGGATTAGCACGGAGG	0.647		NA											False	0	False	17:71381998	0
GRB14	2888	broad.mit.edu	37	2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	399					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTTCAACCGCAACTGAAAG	0.393		NA											False	0	False	2:165353909	0
SLC4A1	6521	broad.mit.edu	37	17	42336630	42336630	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:42336630C>T	ENST00000262418.6	-	9	932	c.777G>A	c.(775-777)ccG>ccA	p.P259P	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	259					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.P259P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTATAGGCACCGGCAGCTCCA	0.652		NA											False	0	False	17:42336630	0
STON1	11037	broad.mit.edu	37	2	48808480	48808480	+	Silent	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:48808480C>T	ENST00000309835.3	+	1	718	c.708C>T	c.(706-708)ctC>ctT	p.L236L	STON1-GTF2A1L_ENST00000394754.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L236L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L236L|STON1_ENST00000404752.1_Silent_p.L236L|STON1_ENST00000406226.1_Silent_p.L236L					stonin 1	NA										NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGAACATCTCCAGTCAGCTG	0.413		NA											False	0	False	2:48808480	0
SLC12A2	6558	broad.mit.edu	37	5	127488461	127488461	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:127488461G>A	ENST00000262461.2	+	15	2516	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776H	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	776					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATTCAATTCGTCTTTCTGGA	0.413		NA											False	0	False	5:127488461	0
TMEM168	64418	broad.mit.edu	37	7	112407372	112407372	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:112407372G>A	ENST00000312814.6	-	5	2534	c.1974C>T	c.(1972-1974)tgC>tgT	p.C658C	TMEM168_ENST00000454074.1_Silent_p.C658C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	NA						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTCAGACCGCATAACCAAT	0.433		NA											False	0	False	7:112407372	0
PKD1L2	114780	broad.mit.edu	37	16	81232548	81232548	+	RNA	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:81232548C>G	ENST00000337114.4	-	0	1261				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	NA					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCGGTGCCTCCCAGGGCCCAT	0.567		NA											False	0	True	16:81232548	0
PRAMEF11	440560	broad.mit.edu	37	1	12887282	12887282	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:12887282C>T	ENST00000535591.1	-	3	770	c.575G>A	c.(574-576)aGg>aAg	p.R192K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	192										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGAAGATTCCTCAAGTGGCC	0.498		NA											False	0	False	1:12887282	0
LPHN2	23266	broad.mit.edu	37	1	82453016	82453016	+	Silent	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:82453016T>C	ENST00000370715.1	+	20	3717	c.3501T>C	c.(3499-3501)taT>taC	p.Y1167Y	LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370730.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGATTTATATCATTTAGAGG	0.303		NA											False	0	False	1:82453016	0
PSMB11	122706	broad.mit.edu	37	14	23511502	23511502	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:23511502G>C	ENST00000408907.2	+	1	127	c.68G>C	c.(67-69)cGg>cCg	p.R23P		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CACCTGCCTCGGGCTGGCGGC	0.637		NA											False	0	True	14:23511502	0
PPP1R3A	5506	broad.mit.edu	37	7	113518053	113518053	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:113518053C>G	ENST00000284601.3	-	4	3162	c.3094G>C	c.(3094-3096)Gta>Cta	p.V1032L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1032					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCAGAGCTTACTAATCCTTCA	0.403		NA											False	0	False	7:113518053	0
KIAA0319	9856	broad.mit.edu	37	6	24582552	24582552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:24582552C>T	ENST00000535378.1	-	7	1731	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W327*	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	372	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTATTAAATTCCATTCATAGT	0.388		NA											False	0	False	6:24582552	0
ADAMTS2	9509	broad.mit.edu	37	5	178585787	178585787	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:178585787C>T	ENST00000251582.7	-	6	1170	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D357N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	357	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGGTATTCATCGTGGCCCGTG	0.612		NA											False	0	False	5:178585787	0
PCDHGB7	0	broad.mit.edu	37	5	140799066	140799066	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:140799066G>C	ENST00000398594.2	+	1	1640	c.1640G>C	c.(1639-1641)aGc>aCc	p.S547T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_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)			GCCAATGTGAGCCTGCGCGTG	0.711		NA											False	0	False	5:140799066	0
CDR2	1039	broad.mit.edu	37	16	22385600	22385600	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:22385600C>G	ENST00000268383.2	-	1	338	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	CDR2_ENST00000569045.1_Intron	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	11						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCCTTCATCTCAAACTCCTCT	0.736		NA											False	0	True	16:22385600	0
PTDSS1	9791	broad.mit.edu	37	8	97342493	97342493	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:97342493A>G	ENST00000517309.1	+	11	1552	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y206C|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y263C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	409					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GCAGAACACTATGGTCACCGA	0.463		NA											False	0	False	8:97342493	0
ADAMTS12	81792	broad.mit.edu	37	5	33881302	33881302	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:33881302G>A	ENST00000504830.1	-	2	746	c.411C>T	c.(409-411)ccC>ccT	p.P137P	ADAMTS12_ENST00000352040.3_Silent_p.P137P|ADAMTS12_ENST00000515401.1_Silent_p.P137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	137					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GATGGCAGAGGGGGGCAGAGG	0.532		NA								HNSCC(64;0.19)			False	0	True	5:33881302	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
CREB5	9586	broad.mit.edu	37	7	28610110	28610110	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:28610110C>A	ENST00000357727.2	+	5	809	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	CREB5_ENST00000409603.1_Missense_Mutation_p.S107Y|CREB5_ENST00000396299.2_Missense_Mutation_p.S107Y|CREB5_ENST00000396300.2_Missense_Mutation_p.S133Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	140					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCGCCTCAGTCCAGCTCTGTC	0.622		NA											False	0	False	7:28610110	0
DNMT3A	1788	broad.mit.edu	37	2	25468126	25468126	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:25468126C>G	ENST00000264709.3	-	13	1887	c.1550G>C	c.(1549-1551)tGc>tCc	p.C517S	DNMT3A_ENST00000402667.1_Missense_Mutation_p.C294S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C517S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C328S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	517	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTACCTTGCAGTTTTGGCA	0.597		NA	"""Mis, F, N, S"""		AML								False	0	False	2:25468126	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	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
NIPBL	25836	broad.mit.edu	37	5	37022228	37022228	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:37022228G>A	ENST00000282516.8	+	28	5903	c.5404G>A	c.(5404-5406)Gta>Ata	p.V1802I	NIPBL_ENST00000448238.2_Missense_Mutation_p.V1802I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1802					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGTTGTTGCTGTAGACCCCAG	0.358		NA											False	0	False	5:37022228	0
PRMT8	56341	broad.mit.edu	37	12	3649855	3649855	+	Silent	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:3649855C>A	ENST00000382622.3	+	2	549	c.159C>A	c.(157-159)ccC>ccA	p.P53P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.P44P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	53					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCACTCAACCCAGCTGCCCAG	0.602		NA											False	0	True	12:3649855	0
SEMA3G	56920	broad.mit.edu	37	3	52471991	52471991	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:52471991C>G	ENST00000231721.2	-	14	1733	c.1734G>C	c.(1732-1734)caG>caC	p.Q578H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	578	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACTCACCTTCCTGGCTCTGGC	0.672		NA											False	0	False	3:52471991	0
FLG	2312	broad.mit.edu	37	1	152282178	152282178	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152282178C>A	ENST00000368799.1	-	3	5219	c.5184G>T	c.(5182-5184)gaG>gaT	p.E1728D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1728	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTGTCTGACTCTTCTGAGT	0.597		NA							Ichthyosis				False	0	False	1:152282178	0
WDR33	55339	broad.mit.edu	37	2	128471486	128471486	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:128471486G>A	ENST00000322313.4	-	18	3137	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	993					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGCAGTCCTGGCCACCCCGGA	0.662		NA											False	0	False	2:128471486	0
XPC	7508	broad.mit.edu	37	3	14209834	14209834	+	Silent	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:14209834G>A	ENST00000285021.7	-	4	673	c.459C>T	c.(457-459)ttC>ttT	p.F153F	XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	153	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGATCGAGAGAAGGCTGTAC	0.418		NA	"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	True	3:14209834	0
SLC9A3	6550	broad.mit.edu	37	5	476656	476656	+	Splice_Site	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:476656A>G	ENST00000264938.3	-	12	1900		c.e12+1		CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Splice_Site	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	NA						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCAGTGCCCACCTCCTGCCG	0.701		NA											False	0	True	5:476656	0
PANX1	24145	broad.mit.edu	37	11	93911725	93911725	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:93911725C>T	ENST00000227638.3	+	3	897	c.512C>T	c.(511-513)tCa>tTa	p.S171L	PANX1_ENST00000436171.2_Missense_Mutation_p.S171L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	171					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAGCCTGCTCAGTTCCAGGT	0.483		NA											False	0	False	11:93911725	0
SLC15A1	6564	broad.mit.edu	37	13	99339977	99339977	+	Splice_Site	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr13:99339977T>C	ENST00000376503.5	-	21	1740	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	562					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GCAGCTGTCATTCTGCAGCAG	0.408		NA											False	0	False	13:99339977	0
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498		NA											False	0	True	1:168510202	0
MAN2A2	4122	broad.mit.edu	37	15	91450665	91450665	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:91450665G>A	ENST00000360468.3	+	7	1154	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R379H|MAN2A2_ENST00000431652.2_5'UTR	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	379					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGGTGGGCGCATCAACTGC	0.567		NA											False	0	False	15:91450665	0
SPICE1	152185	broad.mit.edu	37	3	113179511	113179511	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:113179511T>C	ENST00000295872.4	-	12	1647	c.1388A>G	c.(1387-1389)cAg>cGg	p.Q463R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	463					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTCTGATGCCTGAATTTCTTG	0.433		NA											False	0	False	3:113179511	0
HCN1	348980	broad.mit.edu	37	5	45262090	45262090	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:45262090C>T	ENST00000303230.4	-	8	2663	c.2606G>A	c.(2605-2607)aGa>aAa	p.R869K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	869						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGAAGATTCTCTTGGAAGAGC	0.537		NA											False	0	False	5:45262090	0
PALD1	27143	broad.mit.edu	37	10	72289039	72289039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:72289039C>A	ENST00000263563.6	+	3	508	c.240C>A	c.(238-240)taC>taA	p.Y80*		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1	NA											NA						AGGCTCATTACACGTTGGGCC	0.612		NA											False	0	False	10:72289039	0
DENND2D	79961	broad.mit.edu	37	1	111730759	111730759	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:111730759G>C	ENST00000357640.4	-	11	1562	c.1333C>G	c.(1333-1335)Cct>Gct	p.P445A	DENND2D_ENST00000369752.5_Missense_Mutation_p.P442A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	445										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GTACCTGCAGGAGGATTCTTG	0.468		NA											False	0	False	1:111730759	0
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522		NA											False	0	False	7:99913460	0
ATAD2B	54454	broad.mit.edu	37	2	24051724	24051724	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:24051724C>T	ENST00000238789.5	-	15	2157	c.1814G>A	c.(1813-1815)tGt>tAt	p.C605Y	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	605							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCACCAACACATTTTTCAGC	0.368		NA											False	0	False	2:24051724	0
SBNO1	55206	broad.mit.edu	37	12	123834971	123834971	+	Silent	SNP	T	T	C			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:123834971T>C	ENST00000420886.2	-	1	17	c.18A>G	c.(16-18)caA>caG	p.Q6Q	SBNO1_ENST00000602750.1_Silent_p.Q6Q|SBNO1_ENST00000602398.1_Silent_p.Q6Q|SBNO1_ENST00000267176.4_Silent_p.Q6Q	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	6							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCAGTAAATCTTGCCCTGGCT	0.383		NA											False	0	False	12:123834971	0
HAGH	3029	broad.mit.edu	37	16	1869148	1869148	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:1869148G>A	ENST00000397356.3	-	5	915	c.509C>T	c.(508-510)cCc>cTc	p.P170L	HAGH_ENST00000397353.2_Missense_Mutation_p.P122L|HAGH_ENST00000566709.1_Missense_Mutation_p.P122L|HAGH_ENST00000455446.2_Intron	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	170					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGAGCCTCCGGGCTTGCTCAC	0.627		NA											False	0	True	16:1869148	0
OXR1	55074	broad.mit.edu	37	8	107705020	107705020	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107705020G>A	ENST00000445937.1	+	7	851	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	OXR1_ENST00000497705.1_Missense_Mutation_p.R130Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R197Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R190Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.R197Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R198Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	198					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CGACCTGCACGAGTTGTATCT	0.348		NA											False	0	False	8:107705020	0
PRM1	5619	broad.mit.edu	37	16	11374992	11374992	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:11374992C>G	ENST00000312511.3	-	1	215	c.104G>C	c.(103-105)aGa>aCa	p.R35T	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	35					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		large_intestine(2)|skin(2)	4						ACTCATGGCTCTCCTCCGTGT	0.617		NA											False	0	False	16:11374992	0
RPL12P38	0	broad.mit.edu	37	17	58511366	58511366	+	RNA	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:58511366C>T	ENST00000588627.1	-	0	1991										NA											NA						GAAGGCACCACCTCAATCTGG	0.473		NA											False	0	False	17:58511366	0
PNMA5	114824	broad.mit.edu	37	X	152159333	152159333	+	Silent	SNP	C	C	G			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chrX:152159333C>G	ENST00000439251.1	-	2	1248	c.810G>C	c.(808-810)ctG>ctC	p.L270L	PNMA5_ENST00000535214.1_Silent_p.L270L|PNMA5_ENST00000452693.1_Silent_p.L270L|PNMA5_ENST00000361887.5_Silent_p.L270L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	270					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCTTTCTGCAGCAGGGGCT	0.542		NA											False	0	False	X:152159333	0
NOTCH1	4851	broad.mit.edu	37	9	139412288	139412288	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:139412288C>T	ENST00000277541.6	-	8	1432	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	453	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGTTGACGTCGATCTCG	0.657		NA	"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139412288	0
PFAS	5198	broad.mit.edu	37	17	8170106	8170106	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:8170106G>A	ENST00000314666.6	+	23	2990	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	953					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662		NA											False	0	False	17:8170106	0
CUBN	8029	broad.mit.edu	37	10	16882333	16882333	+	Missense_Mutation	SNP	G	G	A	rs150358307	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:16882333G>A	ENST00000377833.4	-	62	10093	c.10028C>T	c.(10027-10029)cCg>cTg	p.P3343L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3343	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTACCTGCGGTGAGTCCTG	0.423		NA											False	0	False	10:16882333	0
