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
SKA3	221150	broad.mit.edu	37	13	21734128	21734133	+	Splice_Site	DEL	TAAAAG	TAAAAG	-			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	TAAAAG	TAAAAG	-	-	TAAAAG	TAAAAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr13:21734128_21734133delTAAAAG	ENST00000400018.3	-	6	899		c.e6-2		SKA3_ENST00000314759.5_Splice_Site	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	NA					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTCGGCATCTAAAAGACACATAAAA	0.32		NA											False	1	True	13:21734128	0
MUC1	4582	broad.mit.edu	37	1	155160784	155160793	+	Frame_Shift_Del	DEL	GAGGAGGTGA	GAGGAGGTGA	-			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	GAGGAGGTGA	GAGGAGGTGA	-	-	GAGGAGGTGA	GAGGAGGTGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:155160784_155160793delGAGGAGGTGA	ENST00000368395.1	-	3	805_814	c.734_743delTCACCTCCTC	c.(733-744)ctcacctcctccfs	p.LTSS245fs	MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000337604.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1025	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGTGATTGGAGGAGGTGAGAGGAGGTAC	0.495		NA	T	IGH@	B-NHL								False	1	False	1:155160784	0
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs6425573		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316		NA											False	1	True	1:179504035	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
MST1	4485	broad.mit.edu	37	3	49725275	49725279	+	Frame_Shift_Del	DEL	GTGCT	GTGCT	-			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	GTGCT	GTGCT	-	-	GTGCT	GTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:49725275_49725279delGTGCT	ENST00000449682.2	-	2	507_511	c.146_150delAGCAC	c.(145-150)cagcacfs	p.QH49fs	MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000383728.3_Intron|MST1_ENST00000494828.2_Intron	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	35	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATGTAGCAGGTGCTGTAGCTCTGT	0.61		NA											False	1	False	3:49725275	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
GRHL2	79977	broad.mit.edu	37	8	102649148	102649149	+	Frame_Shift_Ins	INS	-	-	CTCT			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:102649148_102649149insCTCT	ENST00000251808.3	+	12	1847_1848	c.1509_1510insCTCT	c.(1510-1512)cgafs	p.R504fs	GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.R488fs|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	504						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CGGATGATGAACGAGAAGGGTA	0.421		NA											False	0	False	8:102649148	0
SLC25A38	54977	broad.mit.edu	37	3	39431021	39431021	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:39431021C>T	ENST00000273158.4	+	2	482	c.105C>T	c.(103-105)tcC>tcT	p.S35S		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	35					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTGTGGCTCCATCAGTGGGA	0.512		NA											False	0	False	3:39431021	0
FTSJ3	117246	broad.mit.edu	37	17	61902464	61902464	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:61902464C>T	ENST00000427159.2	-	8	1300	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	219					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ACTTCAACCTCCTTAAAGGCA	0.428		NA											False	0	False	17:61902464	0
RBM12	10137	broad.mit.edu	37	20	34242517	34242517	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:34242517C>T	ENST00000374114.3	-	3	991	c.728G>A	c.(727-729)gGc>gAc	p.G243D	RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G243D|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.G243D	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	243	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)			GGGCGGCATGCCCGACATGGG	0.552		NA											False	0	True	20:34242517	0
SPEG	10290	broad.mit.edu	37	2	220312960	220312960	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:220312960G>A	ENST00000312358.7	+	4	1212	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Silent_p.S256S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	360					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTCCAAGTCGTCCGGGCCCT	0.716		NA											False	0	False	2:220312960	0
WBSCR17	64409	broad.mit.edu	37	7	71130456	71130456	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:71130456C>T	ENST00000333538.5	+	7	1775	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	381	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCACATTGAGCGGAAGAAGAA	0.488		NA											False	0	False	7:71130456	0
TBC1D32	221322	broad.mit.edu	37	6	121560264	121560264	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:121560264G>A	ENST00000275159.6	-	20	2315	c.2316C>T	c.(2314-2316)acC>acT	p.T772T	TBC1D32_ENST00000398212.2_Silent_p.T772T					TBC1 domain family, member 32	NA											NA						TTCTGGGATGGGTTACCCTAA	0.328		NA											False	0	True	6:121560264	0
TBX20	57057	broad.mit.edu	37	7	35293131	35293131	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:35293131G>A	ENST00000408931.3	-	1	627	c.101C>T	c.(100-102)gCg>gTg	p.A34V		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	34						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTTCTCCGTCGCCTCCTTCTC	0.647		NA											False	0	False	7:35293131	0
KIAA1755	85449	broad.mit.edu	37	20	36868017	36868017	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:36868017T>C	ENST00000279024.4	-	4	1931	c.1660A>G	c.(1660-1662)Acc>Gcc	p.T554A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	554										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCTCCAGGGTGGGGCCTCTT	0.617		NA											False	0	True	20:36868017	0
PLEKHA5	54477	broad.mit.edu	37	12	19436284	19436284	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:19436284G>A	ENST00000538714.1	+	11	1370	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E456K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	456							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCGCTACCCTGAAGGTTATAG	0.408		NA											False	0	False	12:19436284	0
RP11-123M6.2	0	broad.mit.edu	37	14	101318784	101318784	+	RNA	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr14:101318784G>A	ENST00000554041.1	-	0	143				MIR770_ENST00000390219.1_RNA						NA											NA						GCTGGGCCTCGTGGGCCTGAT	0.602		NA											False	0	False	14:101318784	0
SIGLEC8	27181	broad.mit.edu	37	19	51961269	51961269	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:51961269G>A	ENST00000321424.3	-	1	439	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	125					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCTCTAGCCGAAAGAAATAT	0.502		NA											False	0	True	19:51961269	0
GABRB1	2560	broad.mit.edu	37	4	47427807	47427807	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:47427807C>T	ENST00000295454.3	+	9	1489	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	GABRB1_ENST00000538619.1_Silent_p.S329S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTATGACAGCGCCAGCATCC	0.657		NA											False	0	False	4:47427807	0
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:179587193G>A	ENST00000589042.1	-	77	22545	c.22321C>T	c.(22321-22323)Cga>Tga	p.R7441*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7124	Ig-like 56.			S -> N (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTAATCGACAAGTGAGT	0.418		NA											False	0	False	2:179587193	0
SDK1	221935	broad.mit.edu	37	7	4185464	4185464	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:4185464G>A	ENST00000404826.2	+	29	4478	c.4339G>A	c.(4339-4341)Gca>Aca	p.A1447T	SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1447	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCGGAGTCCGCATACATCTT	0.662		NA											False	0	False	7:4185464	0
HOXC12	3228	broad.mit.edu	37	12	54348951	54348951	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:54348951G>A	ENST00000243103.3	+	1	334	c.238G>A	c.(238-240)Ggc>Agc	p.G80S		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	80					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCCTCCCTTCGGCCGCACGTG	0.721		NA											False	0	False	12:54348951	0
RPUSD4	84881	broad.mit.edu	37	11	126081418	126081418	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:126081418G>A	ENST00000298317.4	-	1	169	c.116C>T	c.(115-117)aCg>aTg	p.T39M	FAM118B_ENST00000533050.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.T39M	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	39					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTTATGGCCGTAGAGGCAGC	0.592		NA											False	0	False	11:126081418	0
SCN9A	6335	broad.mit.edu	37	2	167168078	167168078	+	Silent	SNP	A	A	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:167168078A>G	ENST00000303354.6	-	2	529	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000375387.4_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000409435.1_Silent_p.Y63Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	63						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAATGTCCCCATAGATGAAGG	0.473		NA											False	0	True	2:167168078	0
RFPL1	5988	broad.mit.edu	37	22	29837713	29837713	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:29837713G>A	ENST00000354373.2	+	2	765	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	186	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GGAGGTGGACGTGGGAACAAG	0.562		NA											False	0	False	22:29837713	0
KIAA1551	55196	broad.mit.edu	37	12	32134698	32134698	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:32134698C>T	ENST00000312561.4	+	4	1223	c.809C>T	c.(808-810)gCc>gTc	p.A270V	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551	NA											NA						CAGCAGTATGCCACGCAAACT	0.403		NA											False	0	False	12:32134698	0
CDC25B	994	broad.mit.edu	37	20	3785242	3785242	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:3785242G>A	ENST00000245960.5	+	15	2214	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H	CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	506	Rhodanese.				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GAACGAGACCGTGCTGTCAAC	0.592		NA											False	0	False	20:3785242	0
NAA60	79903	broad.mit.edu	37	16	3533506	3533506	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr16:3533506C>T	ENST00000407558.4	+	6	784	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	NAA60_ENST00000572584.1_Missense_Mutation_p.L161F|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000608722.1_Missense_Mutation_p.L161F|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000608993.1_Missense_Mutation_p.L96F|NAA60_ENST00000360862.5_Missense_Mutation_p.L96F|NAA60_ENST00000414063.2_Missense_Mutation_p.L161F|NAA60_ENST00000575076.1_Missense_Mutation_p.L161F|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000573580.1_Missense_Mutation_p.L96F|NAA60_ENST00000610180.1_Missense_Mutation_p.L161F|NAA60_ENST00000577013.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000424546.2_Missense_Mutation_p.L168F			Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	161	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GCACCACTATCTCCCCTATTA	0.488		NA											False	0	False	16:3533506	0
UBR4	23352	broad.mit.edu	37	1	19505631	19505631	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:19505631C>T	ENST00000375267.2	-	18	2271	c.2268G>A	c.(2266-2268)gtG>gtA	p.V756V	UBR4_ENST00000375226.2_Silent_p.V756V|UBR4_ENST00000375254.3_Silent_p.V756V|UBR4_ENST00000375217.2_Silent_p.V756V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	756					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCGTGAAAGCACAGAGAGGC	0.507		NA											False	0	False	1:19505631	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C	rs138973461	by1000genomes	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:45128735T>C	ENST00000575173.1	-	0	418										NA											NA						GAAATACTAATGATTTTTATT	0.323		NA											False	0	False	17:45128735	0
RARG	5916	broad.mit.edu	37	12	53607867	53607867	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:53607867G>A	ENST00000425354.2	-	7	1276	c.789C>T	c.(787-789)ctC>ctT	p.L263L	RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000394426.1_Silent_p.L263L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	263	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532		NA									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:53607867	0
HSPG2	3339	broad.mit.edu	37	1	22216568	22216568	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216568C>G	ENST00000374695.3	-	6	559	c.480G>C	c.(478-480)caG>caC	p.Q160H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	160	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCTCCTGAATCTGAGCCCCAT	0.622		NA											False	0	False	1:22216568	0
FAH	2184	broad.mit.edu	37	15	80465429	80465429	+	Silent	SNP	T	T	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:80465429T>A	ENST00000539156.1	+	8	2808	c.570T>A	c.(568-570)tcT>tcA	p.S190S	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Silent_p.S260S|FAH_ENST00000561421.1_Silent_p.S260S|FAH_ENST00000261755.5_Silent_p.S260S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	260					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACTGTCTCTCCGTGGGTGG	0.572		NA							Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	15:80465429	0
PKDREJ	10343	broad.mit.edu	37	22	46654414	46654414	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:46654414G>A	ENST00000253255.5	-	1	4805	c.4806C>T	c.(4804-4806)taC>taT	p.Y1602Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1602					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTCATAGCCGTAAGTCAGTC	0.398		NA											False	0	False	22:46654414	0
CRMP1	1400	broad.mit.edu	37	4	5830236	5830236	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:5830236G>A	ENST00000324989.7	-	12	1871	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|CRMP1_ENST00000397890.2_Missense_Mutation_p.R481C|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	481					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ATTTTGACGCGCTGGTACAGG	0.592		NA											False	0	False	4:5830236	0
PABPC1	26986	broad.mit.edu	37	8	101730449	101730449	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:101730449T>A	ENST00000318607.5	-	2	1381	c.253A>T	c.(253-255)Atg>Ttg	p.M85L	PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L|PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	85	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGAGACCACATGATGCGTACT	0.398		NA											False	0	False	8:101730449	0
PYHIN1	149628	broad.mit.edu	37	1	158913710	158913710	+	Missense_Mutation	SNP	G	G	A	rs148035759		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158913710G>A	ENST00000368140.1	+	6	1378	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	378	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTCTGCTTTCGACTGAGAAAG	0.363		NA											False	0	False	1:158913710	0
TARSL2	123283	broad.mit.edu	37	15	102252128	102252128	+	Missense_Mutation	SNP	G	G	A	rs146271638	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:102252128G>A	ENST00000335968.3	-	5	983	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	256					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCAATGGGCGGACCGTAGCA	0.463		NA											False	0	False	15:102252128	0
TCP11L2	255394	broad.mit.edu	37	12	106705000	106705000	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:106705000C>A	ENST00000546625.1	+	2	306	c.147C>A	c.(145-147)agC>agA	p.S49R	TCP11L2_ENST00000299045.3_Missense_Mutation_p.S49R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	49	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GCAAATCCAGCTCTCCTGCTT	0.522		NA											False	0	False	12:106705000	0
USP5	0	broad.mit.edu	37	12	6970246	6970246	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:6970246C>T	ENST00000229268.8	+	12	1526	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.P492S	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	492					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCTGCCTGTGCCCATGGATGC	0.557		NA											False	0	True	12:6970246	0
NFS1	9054	broad.mit.edu	37	20	34260692	34260692	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:34260692C>T	ENST00000374092.4	-	12	1365	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V92I|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	432					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTCTCGAAGACGCTTCACATG	0.458		NA											False	0	False	20:34260692	0
TBC1D27	0	broad.mit.edu	37	17	16831075	16831075	+	RNA	SNP	A	A	C			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:16831075A>C	ENST00000261651.2	-	0	2694										NA											NA						GGAGGACGGCAGTGTTGCGGC	0.632		NA											False	0	False	17:16831075	0
CACNA1I	8911	broad.mit.edu	37	22	40060900	40060900	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:40060900C>T	ENST00000336649.4	+	24	3841	c.3841C>T	c.(3841-3843)Cgg>Tgg	p.R1281W	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1275W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1275					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCGAGTCTTGCGGCTCCTGCG	0.637		NA											False	0	False	22:40060900	0
VAX1	11023	broad.mit.edu	37	10	118895992	118895992	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr10:118895992G>A	ENST00000277905.2	-	2	664	c.420C>T	c.(418-420)tcC>tcT	p.S140S	VAX1_ENST00000369206.5_Silent_p.S140S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	140						nucleus	sequence-specific DNA binding	p.S140S(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTGGGTCTCGGAGAGGTTAA	0.652		NA											False	0	False	10:118895992	0
ZNF470	388566	broad.mit.edu	37	19	57089047	57089047	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:57089047G>T	ENST00000330619.8	+	6	1936	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R417I(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGCATAAGAGAACTCATACT	0.418		NA											False	0	False	19:57089047	0
NLRP7	199713	broad.mit.edu	37	19	55452821	55452821	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:55452821C>T	ENST00000446217.1	-	4	745	c.343G>A	c.(343-345)Gca>Aca	p.A115T	NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000590030.1_Missense_Mutation_p.A87T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	87							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGCCTTTGCCATCTTACAC	0.423		NA											False	0	False	19:55452821	0
PHKA2	5256	broad.mit.edu	37	X	18961884	18961884	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:18961884G>A	ENST00000379942.4	-	7	1326	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	221					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGTCCTCCATGGGCTCCAAAA	0.458		NA											False	0	True	X:18961884	0
XIST	0	broad.mit.edu	37	X	73071643	73071643	+	RNA	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:73071643G>A	ENST00000429829.1	-	0	945					NR_001564.2					NA											NA						GAGTTATGCGGCAAGTCTAAA	0.493		NA											False	0	False	X:73071643	0
GOLGA1	2800	broad.mit.edu	37	9	127690535	127690535	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:127690535C>G	ENST00000373555.4	-	6	664	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	111						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGAATGTCTCATTCTGCTCT	0.433		NA											False	0	False	9:127690535	0
E2F8	79733	broad.mit.edu	37	11	19256510	19256510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:19256510G>A	ENST00000527884.1	-	5	779	c.547C>T	c.(547-549)Cga>Tga	p.R183*	E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	183					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R183*(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGATTGTGTCGCCCGTGCCAA	0.463		NA											False	0	True	11:19256510	0
CTNNA2	1496	broad.mit.edu	37	2	80136879	80136879	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:80136879G>A	ENST00000466387.1	+	11	1736	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	338					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.V338M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTGCAACGCCGTGCGGCAGGC	0.597		NA											False	0	False	2:80136879	0
OGDH	4967	broad.mit.edu	37	7	44747283	44747283	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:44747283G>A	ENST00000222673.5	+	22	2941	c.2899G>A	c.(2899-2901)Gac>Aac	p.D967N	OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	967					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGGCTACTATGACTACGTGAA	0.602		NA											False	0	False	7:44747283	0
SLC41A3	54946	broad.mit.edu	37	3	125734346	125734346	+	Missense_Mutation	SNP	C	C	T	rs138712564		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:125734346C>T	ENST00000383598.2	-	7	1168	c.883G>A	c.(883-885)Gtc>Atc	p.V295I	SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000315891.6_Missense_Mutation_p.V321I|SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	321						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCACATATGACGGGGGTAAAT	0.517		NA											False	0	True	3:125734346	0
ASGR2	433	broad.mit.edu	37	17	7010342	7010342	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7010342C>T	ENST00000380952.2	-	7	904	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I|ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	214	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GAGTTGATGACCACCAGGTGT	0.607		NA											False	0	False	17:7010342	0
ZNF182	7569	broad.mit.edu	37	X	47835701	47835701	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:47835701C>G	ENST00000396965.1	-	7	2135	c.1785G>C	c.(1783-1785)gaG>gaC	p.E595D	ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D|ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E595D(1)|p.E576D(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATAGGGTTTCTCTCCAGTAT	0.443		NA											False	0	True	X:47835701	0
APC	324	broad.mit.edu	37	5	112175046	112175046	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:112175046C>A	ENST00000457016.1	+	16	4135	c.3755C>A	c.(3754-3756)tCt>tAt	p.S1252Y	APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y			P25054	APC_HUMAN	adenomatous polyposis coli	1252	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGCAAAGTTTCTTCTATTAAC	0.393		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	True	5:112175046	0
ZNF83	55769	broad.mit.edu	37	19	53117004	53117004	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:53117004G>A	ENST00000597597.1	-	2	3067	c.814C>T	c.(814-816)Cat>Tat	p.H272Y	ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000601257.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	272						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGTGAAATATGATGGAAGACC	0.418		NA											False	0	False	19:53117004	0
PCDHA12	0	broad.mit.edu	37	5	140255222	140255222	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:140255222G>T	ENST00000398631.2	+	1	165	c.165G>T	c.(163-165)gaG>gaT	p.E55D	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1				NA										NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGGAGCTGGCGGAGC	0.622		NA											False	0	False	5:140255222	0
TPO	7173	broad.mit.edu	37	2	1497609	1497609	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:1497609C>T	ENST00000345913.4	+	11	1895	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.R602C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCCTGCCTCGCCTGGAGAC	0.572		NA											False	0	True	2:1497609	0
CHRNA2	0	broad.mit.edu	37	8	27320780	27320780	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:27320780G>A	ENST00000407991.1	-	6	1788	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	CHRNA2_ENST00000520933.2_Missense_Mutation_p.R394C|CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	394						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	AGCTTCAGGCGTAGGGGGTGG	0.667		NA											False	0	False	8:27320780	0
PEG10	23089	broad.mit.edu	37	7	94293374	94293374	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:94293374G>A	ENST00000482108.1	+	2	985	c.506G>A	c.(505-507)cGc>cAc	p.R169H	PEG10_ENST00000488574.1_Missense_Mutation_p.R169H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	169	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTGCCAAACGCAAGATCAGA	0.542		NA											False	0	False	7:94293374	0
PDE3A	5139	broad.mit.edu	37	12	20774340	20774340	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:20774340G>A	ENST00000359062.3	+	5	1575	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	512					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AAGCAAAGTCGACCAGGTAAG	0.418		NA											False	0	False	12:20774340	0
CEP290	80184	broad.mit.edu	37	12	88512344	88512344	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:88512344C>T	ENST00000552810.1	-	17	1970	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E545K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	543					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTAGACTTTCAATCTGCAAA	0.333		NA											False	0	True	12:88512344	0
B3GALT4	8705	broad.mit.edu	37	6	33245960	33245960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:33245960G>A	ENST00000451237.1	+	1	1044	c.764G>A	c.(763-765)tGg>tAg	p.W255*		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	255					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCTCACACCTGGGGCCCCTTT	0.657		NA											False	0	True	6:33245960	0
ABTB2	25841	broad.mit.edu	37	11	34184254	34184254	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:34184254G>A	ENST00000435224.2	-	10	2511	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	510							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGGCTCGACGCATCACTTTC	0.657		NA											False	0	False	11:34184254	0
CNBD1	168975	broad.mit.edu	37	8	88249204	88249204	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:88249204A>G	ENST00000518476.1	+	6	686	c.635A>G	c.(634-636)aAc>aGc	p.N212S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	212										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CCTCAAACAAACGTGTATAAA	0.368		NA											False	0	True	8:88249204	0
MLXIPL	51085	broad.mit.edu	37	7	73010006	73010006	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:73010006G>A	ENST00000313375.3	-	15	2318	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	MLXIPL_ENST00000354613.1_Silent_p.Y736Y|MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000414749.2_Silent_p.Y755Y|MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	757					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGTTCGGACGTAGTCATCAA	0.632		NA											False	0	False	7:73010006	0
PIKFYVE	200576	broad.mit.edu	37	2	209190426	209190426	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:209190426C>T	ENST00000264380.4	+	20	3049	c.2891C>T	c.(2890-2892)cCg>cTg	p.P964L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	964					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.P964L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGCTTGCCCGGCGGGTCTC	0.502		NA											False	0	True	2:209190426	0
HEATR2	54919	broad.mit.edu	37	7	794231	794231	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:794231C>T	ENST00000297440.6	+	5	1050	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	344							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCAGAGCGCCGCCCTGTGCT	0.547		NA											False	0	False	7:794231	0
RBFOX1	54715	broad.mit.edu	37	16	7703894	7703894	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr16:7703894G>A	ENST00000340209.4	+	9	1147	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	RBFOX1_ENST00000355637.4_Missense_Mutation_p.V299M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V296M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V322M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V299M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V322M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V252M|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V299M|RBFOX1_ENST00000550418.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V236M			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	279					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.V299M(2)|p.V279M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGTCGCACCGTGTACAACAC	0.741		NA											False	0	False	16:7703894	0
TP53	7157	broad.mit.edu	37	17	7577555	7577555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7577555G>T	ENST00000420246.2	-	7	858	c.726C>A	c.(724-726)tgC>tgA	p.C242*	TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C242*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(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)		TGCCGCCCATGCAGGAACTGT	0.582		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	17:7577555	0
MAP6	4135	broad.mit.edu	37	11	75298708	75298708	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:75298708G>A	ENST00000304771.3	-	4	2588	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	MAP6_ENST00000526740.1_Missense_Mutation_p.P284L|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	613	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCCTTGACAGGTGCTGGGAC	0.537		NA											False	0	False	11:75298708	0
CADPS2	93664	broad.mit.edu	37	7	122377080	122377080	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:122377080C>A	ENST00000334010.7	-	2	803	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	CADPS2_ENST00000449022.2_Missense_Mutation_p.A128S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	128					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTGAGGAAGGCCTGGAACCGT	0.383		NA											False	0	False	7:122377080	0
FAHD2B	151313	broad.mit.edu	37	2	97751522	97751522	+	Missense_Mutation	SNP	C	C	T	rs138523783		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:97751522C>T	ENST00000414820.1	-	6	869	c.599G>A	c.(598-600)cGc>cAc	p.R200H	FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H|FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	200							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TTTCCCATTGCGTCTTGTTAG	0.597		NA											False	0	False	2:97751522	0
GRIK3	2899	broad.mit.edu	37	1	37346362	37346362	+	Silent	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:37346362C>A	ENST00000373091.3	-	3	439	c.423G>T	c.(421-423)ccG>ccT	p.P141P	GRIK3_ENST00000373093.4_Silent_p.P141P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	141					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTTGTCCAGCGGGTGGTGCT	0.612		NA											False	0	True	1:37346362	0
BRWD3	254065	broad.mit.edu	37	X	79938009	79938009	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:79938009C>T	ENST00000373275.4	-	38	4568	c.4352G>A	c.(4351-4353)cGt>cAt	p.R1451H	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1451										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCTTCTTAGACGTTTTCTGTA	0.368		NA											False	0	False	X:79938009	0
COL6A6	131873	broad.mit.edu	37	3	130287020	130287020	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:130287020G>A	ENST00000358511.6	+	5	2004	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	658	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.R658L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGACCAGATCGGGTGCAAATT	0.413		NA											False	0	True	3:130287020	0
TMEM63A	9725	broad.mit.edu	37	1	226037743	226037743	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	647						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602		NA											False	0	False	1:226037743	0
CORT	1325	broad.mit.edu	37	1	10510135	10510135	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:10510135A>C	ENST00000320498.4	+	1	165	c.5A>C	c.(4-6)tAt>tCt	p.Y2S	APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|CORT_ENST00000377049.3_5'UTR					cortistatin	NA										breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		TTAGACATGTATAGACACAAA	0.512		NA											False	0	False	1:10510135	0
TMEM17	200728	broad.mit.edu	37	2	62728450	62728450	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:62728450T>G	ENST00000335390.5	-	4	702	c.491A>C	c.(490-492)aAa>aCa	p.K164T		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	164						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			ATTAACCATTTTCCTTAAGGT	0.428		NA											False	0	True	2:62728450	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_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
LBR	3930	broad.mit.edu	37	1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373		NA											False	0	False	1:225611758	0
DIDO1	11083	broad.mit.edu	37	20	61511164	61511164	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2048					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGAGAGCGCGGAGGGCGGCC	0.721		NA											False	0	False	20:61511164	0
HSPG2	3339	broad.mit.edu	37	1	22216609	22216609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216609C>A	ENST00000374695.3	-	6	518	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	147	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACATCCAGCTCCACAAAAACC	0.617		NA											False	0	False	1:22216609	0
DDR2	4921	broad.mit.edu	37	1	162729744	162729744	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:162729744G>A	ENST00000367922.3	+	9	1268	c.830G>A	c.(829-831)cGc>cAc	p.R277H	DDR2_ENST00000367921.3_Missense_Mutation_p.R277H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	NA					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GAATTTGACCGCATCAGGAAT	0.498		NA											False	0	False	1:162729744	0
CASP5	838	broad.mit.edu	37	11	104871109	104871109	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:104871109C>T	ENST00000393141.2	-	6	901	c.870G>A	c.(868-870)gcG>gcA	p.A290A	CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000260315.3_Silent_p.A277A|CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000531367.1_Silent_p.A135A	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	277					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCTTTTTATGCGCAGTTCCGC	0.483		NA											False	0	False	11:104871109	0
DRD3	1814	broad.mit.edu	37	3	113850098	113850098	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:113850098C>T	ENST00000383673.2	-	6	1303	c.873G>A	c.(871-873)gcG>gcA	p.A291A	DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Silent_p.A291A	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	291					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGAGCTTGGGCGCTATGGTGG	0.542		NA											False	0	True	3:113850098	0
TIMM44	10469	broad.mit.edu	37	19	7998774	7998774	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:7998774C>T	ENST00000270538.3	-	6	926	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	220					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						ACTTTCTCCTCCTTGAACTTA	0.587		NA											False	0	False	19:7998774	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971120	0
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCCCAGGACGCGCCTGGGG	0.537		NA											False	0	False	8:73480145	0
CD1D	912	broad.mit.edu	37	1	158153826	158153826	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158153826G>A	ENST00000368171.3	+	6	1485		c.e6+1			NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	NA					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512		NA											False	0	False	1:158153826	0
NTSR1	4923	broad.mit.edu	37	20	61341006	61341006	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61341006C>T	ENST00000370501.3	+	1	818	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	149						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCCTGCGCGACGCCTGCACCT	0.662		NA											False	0	False	20:61341006	0
RYR2	6262	broad.mit.edu	37	1	237550598	237550598	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:237550598C>T	ENST00000366574.2	+	9	911	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	198	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTATGGCAACGGCAGCTTAC	0.498		NA											False	0	False	1:237550598	0
TRDN	10345	broad.mit.edu	37	6	123869741	123869741	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:123869741C>A	ENST00000334268.4	-	3	566	c.249G>T	c.(247-249)aaG>aaT	p.K83N	TRDN_ENST00000542443.1_Missense_Mutation_p.K83N|TRDN_ENST00000398178.3_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N			Q13061	TRDN_HUMAN	triadin	83					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTGAGCCAATCTTGGCAATAG	0.333		NA											False	0	False	6:123869741	0
PGBD2	0	broad.mit.edu	37	1	249212345	249212345	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:249212345C>T	ENST00000355360.4	+	3	1079	c.809C>T	c.(808-810)gCc>gTc	p.A270V	PGBD2_ENST00000329291.5_Missense_Mutation_p.A521V|PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	521										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGATACATTGCCTGTGTGTAT	0.532		NA											False	0	False	1:249212345	0
LRP3	4037	broad.mit.edu	37	19	33696978	33696978	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:33696978C>T	ENST00000253193.7	+	5	1504	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	434	LDL-receptor class A 3.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACACGCCTGCCGACCGCTGCA	0.667		NA											False	0	False	19:33696978	0
TBC1D2B	23102	broad.mit.edu	37	15	78305282	78305282	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:78305282A>T	ENST00000409931.3	-	9	2224	c.2153T>A	c.(2152-2154)cTg>cAg	p.L718Q	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.L718Q			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	718	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTTGGGCAGAGTTCGCAG	0.547		NA											False	0	False	15:78305282	0
