Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CPE	1363	broad.mit.edu	37	4	166405633	166405633	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr4:166405633G>A	ENST00000402744.4	+	5	1130	c.850G>A	c.(850-852)Gca>Aca	p.A284T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	284					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.A284T(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTGGCCCGGGCATACTCTTC	0.498000													5	257					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520474	52520474	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr14:52520474C>T	ENST00000216286.5	-	5	1251	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	NID2_ENST00000541773.1_Missense_Mutation_p.G365R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	418						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGATGCTTCCGTTTTCGGGG	0.562000													3	64					0	0	1	0	0
HLA-DRB6	0	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs114905475	by1000genomes	TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1																						TGGGTCTTTGCAGGATACACA	0.488000													4	6					0.0215528	0.0215528	1	1	0
IKBKE	0	broad.mit.edu	37	1	206653815	206653815	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:206653815C>T	ENST00000367120.3	+	13	1739	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.R371W	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	456	Leucine-zipper.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CACATGCAGACGGACTCTGGA	0.627000													9	21					0	0	1	0	0
TAL2	6887	broad.mit.edu	37	9	108425068	108425068	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr9:108425068G>A	ENST00000334077.3	+	1	331	c.291G>A	c.(289-291)caG>caA	p.Q97Q		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										AGAACTACCAGGTTCCTTCAC	0.572000			T	TRB@	T-ALL								12	29					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54076171	54076171	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr10:54076171T>C	ENST00000373970.3	+	3	662	c.523T>C	c.(523-525)Tct>Cct	p.S175P	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	175					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AACCACCTTGTCTTCAAAAAT	0.368000													4	74					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417158	54417158	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr14:54417158G>A	ENST00000245451.4	-	4	1212	c.819C>T	c.(817-819)gtC>gtT	p.V273V	BMP4_ENST00000558984.1_Silent_p.V273V|BMP4_ENST00000559087.1_Silent_p.V273V|BMP4_ENST00000417573.1_Silent_p.V273V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	273					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCCAAAGGTGACCAGGAGGG	0.617000													14	35					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153765889	153765889	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:153765889G>T	ENST00000297107.6	+	7	1092	c.955G>T	c.(955-957)Ggt>Tgt	p.G319C	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.G319C|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.G257C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	319	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G319C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CGTGATGGCCGGTGGACTGTT	0.567000													4	163					2.56e-06	2.71284e-06	1	1	0
CACNB1	782	broad.mit.edu	37	17	37341091	37341091	+	Silent	SNP	C	C	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr17:37341091C>G	ENST00000394303.3	-	8	882	c.675G>C	c.(673-675)gtG>gtC	p.V225V	CACNB1_ENST00000394310.3_Silent_p.V225V|CACNB1_ENST00000344140.5_Silent_p.V270V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	225					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TGGAAGGCACCACGTCATAGG	0.602000													5	54					0	0	1	0	0
RPF1	80135	broad.mit.edu	37	1	84961652	84961652	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:84961652T>G	ENST00000370654.5	+	7	802	c.787T>G	c.(787-789)Ttt>Gtt	p.F263V		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	263	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TGGACGTATGTTTGCATCTCT	0.398000													17	35					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70462905	70462905	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:70462905G>C	ENST00000373998.1	-	22	4123	c.3426C>G	c.(3424-3426)aaC>aaG	p.N1142K	ZMYM3_ENST00000353904.2_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N1156K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N1149K	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1154					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCGTGAAAATGTTCACCATCC	0.458000													15	14					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64694285	64694285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr11:64694285G>T	ENST00000164133.2	+	3	923	c.301G>T	c.(301-303)Gag>Tag	p.E101*		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	101					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CAAGGGGAAGGAGGTGAAGCG	0.632000													6	111					0.00116845	0.00120231	1	1	0
IGLON5	402665	broad.mit.edu	37	19	51831965	51831965	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:51831965G>A	ENST00000270642.8	+	8	963	c.963G>A	c.(961-963)ggG>ggA	p.G321G		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	321						extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						GGCCCCCAGGGCTCCTGGCCC	0.672000													4	8					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376593	78376593	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:78376593C>T	ENST00000255192.3	+	4	408	c.342C>T	c.(340-342)tgC>tgT	p.C114C	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	114	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGGGGATCTGCCAGACATCAA	0.448000													6	83					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													4	59					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065632	57065632	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:57065632G>A	ENST00000301318.3	+	8	1549	c.1478G>A	c.(1477-1479)cGt>cAt	p.R493H	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TCCCTTATCCGTCACTGGAGA	0.473000													3	67					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245991	33245991	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr6:33245991G>A	ENST00000451237.1	+	1	1075	c.795G>A	c.(793-795)acG>acA	p.T265T		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	265					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						CCTCAGGCACGGGGTATGTGC	0.642000													18	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418324	179418324	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr2:179418324C>T	ENST00000589042.1	-	334	89632	c.89408G>A	c.(89407-89409)gGa>gAa	p.G29803E	TTN_ENST00000359218.5_Missense_Mutation_p.G20863E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20738E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20930E|TTN_ENST00000591111.1_Missense_Mutation_p.G28162E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27235E|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28162	Fibronectin type-III 117.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			GTAATTGACTCCAGGTTTCAG	0.423000													4	58					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51992299	51992299	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:51992299G>A	ENST00000461554.1	-	14	1321	c.990C>T	c.(988-990)ccC>ccT	p.P330P	PCBP4_ENST00000322099.7_Silent_p.P330P|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000484633.1_Silent_p.P287P|PCBP4_ENST00000355852.2_Silent_p.P330P|PCBP4_ENST00000395014.2_Silent_p.P351P|PCBP4_ENST00000395013.3_Silent_p.P170P|PCBP4_ENST00000428823.2_Silent_p.P287P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	330						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGGCGAGAAGGGGGCAGGCA	0.662000													6	34					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207564545	207564545	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr2:207564545A>G	ENST00000452335.2	-	7	741	c.625T>C	c.(625-627)Tgg>Cgg	p.W209R	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	209						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTCGGGAGCCACAGGAGGATG	0.522000													10	18					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94027888	94027888	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:94027888C>T	ENST00000265140.5	+	20	3041	c.2622C>T	c.(2620-2622)gaC>gaT	p.D874D		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	874										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CTCAAGTGGACGGGGTGACTC	0.483000													28	62					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212572	26212572	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:26212572G>A	ENST00000379034.1	+	2	758	c.609G>A	c.(607-609)gcG>gcA	p.A203A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	203	MAGE.							p.A203A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478000													44	17					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91512349	91512349	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr10:91512349C>T	ENST00000416354.1	+	25	4410	c.4338C>T	c.(4336-4338)tgC>tgT	p.C1446C	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.C1416C|KIF20B_ENST00000371728.3_Silent_p.C1416C|KIF20B_ENST00000260753.4_Silent_p.C1376C			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1416					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGAAAAATGCAATGATTTGG	0.328000													11	20					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666801	77666801	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:77666801C>A	ENST00000461745.1	+	22	4331	c.3431C>A	c.(3430-3432)tCc>tAc	p.S1144Y	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1144Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.S1160Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1144					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTGCTATCTCCTTTGGACAG	0.512000													25	54					3.83957e-06	4.00896e-06	1	1	0
GALNT8	26290	broad.mit.edu	37	12	4853823	4853823	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:4853823G>A	ENST00000252318.2	+	4	1154	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	273	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CACAGCAGACGTGGTCGCCAT	0.498000													10	20					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15605910	15605910	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:15605910G>C	ENST00000427411.1	-	7	984	c.768C>G	c.(766-768)atC>atG	p.I256M	ACE2_ENST00000252519.3_Missense_Mutation_p.I256M	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	256					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAATTGGACTGATATAGGAAG	0.388000													35	19					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39624531	39624531	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624531G>T	ENST00000265708.4	-	14	1446	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	ADAM2_ENST00000379853.2_Missense_Mutation_p.S322Y|ADAM2_ENST00000521880.1_Missense_Mutation_p.S448Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.S429Y	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	448	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTCTTCAAAGGAAGGCCTACA	0.383000													5	123					2.0095e-06	2.16173e-06	1	1	0
LY96	23643	broad.mit.edu	37	8	74922262	74922262	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:74922262A>T	ENST00000284818.2	+	3	320	c.229A>T	c.(229-231)Aat>Tat	p.N77Y	LY96_ENST00000518893.1_Missense_Mutation_p.N47Y	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	77					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATTATATTTCAATCTCTATAT	0.328000													17	46					0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32884346	32884346	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:32884346G>A	ENST00000452533.2	+	11	1421	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000547312.1_Silent_p.R419R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418000													4	126					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36570362	36570362	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:36570362G>T	ENST00000273183.3	+	10	1295	c.995G>T	c.(994-996)gGc>gTc	p.G332V	STAC_ENST00000457375.2_Missense_Mutation_p.G271V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	332	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GACAGAATTGGCTTCTTTCCA	0.358000													19	28					5.35267e-07	5.84676e-07	1	1	0
ARNTL2	56938	broad.mit.edu	37	12	27540209	27540209	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:27540209C>T	ENST00000544915.1	+	6	730	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	ARNTL2_ENST00000261178.5_Missense_Mutation_p.L157F|ARNTL2_ENST00000311001.5_Missense_Mutation_p.L191F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.L120F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.L168F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.L168F|ARNTL2_ENST00000266503.5_Missense_Mutation_p.L205F	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	205					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGGAAAAATTCTCTTCGTTTC	0.289000													17	45					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126676272	126676272	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:126676272G>A	ENST00000274473.6	+	5	536	c.269G>A	c.(268-270)cGc>cAc	p.R90H	MEGF10_ENST00000418761.2_Missense_Mutation_p.R90H|MEGF10_ENST00000508365.1_Missense_Mutation_p.R90H|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	90	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTATAGGCGCAAGTCTCAG	0.423000													8	92					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3731956	3731956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:3731956C>T	ENST00000541714.2	+	6	1099	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q213*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q222*|TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q232*|TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q232*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q177*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	213	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCAGTCAGATCTTCAT	0.582000													24	61					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31889127	31889127	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr20:31889127C>T	ENST00000253354.1	+	9	997	c.836C>T	c.(835-837)cCg>cTg	p.P279L	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	279						extracellular space	lipid binding										GACAACATCCCGTTCAGCCTC	0.532000													29	65					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34853050	34853050	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr18:34853050G>C	ENST00000420428.2	-	7	1273	c.878C>G	c.(877-879)gCc>gGc	p.A293G	CELF4_ENST00000361795.5_Missense_Mutation_p.A291G|CELF4_ENST00000591282.1_Missense_Mutation_p.A293G|CELF4_ENST00000334919.5_Missense_Mutation_p.A283G|CELF4_ENST00000412753.1_Missense_Mutation_p.A292G|CELF4_ENST00000588597.1_Missense_Mutation_p.A282G|CELF4_ENST00000591287.1_Missense_Mutation_p.A292G|CELF4_ENST00000601019.1_Missense_Mutation_p.A291G|CELF4_ENST00000603232.1_Missense_Mutation_p.A292G	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	293	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CATCTGGGCGGCAGCGAAGGC	0.642000													20	43					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17000463	17000463	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:17000463C>T	ENST00000599210.1	+	2	185	c.185C>T	c.(184-186)tCc>tTc	p.S62F	F2RL3_ENST00000248076.3_Silent_p.L63L			Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	0					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCCTGGAGCTCCCGGACAGCT	0.687000													5	56					0	0	1	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74212378	74212378	+	Silent	SNP	T	T	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468000													4	157					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102241290	102241290	+	Splice_Site	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr15:102241290C>T	ENST00000335968.3	-	10	1535	c.1320_splice	c.e10+1	p.R440_splice		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	440					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)			TTAACTTACTCGTATGAAATC	0.313000													13	27					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11559781	11559781	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:11559781G>A	ENST00000252455.2	+	15	1654	c.1318G>A	c.(1318-1320)Ggg>Agg	p.G440R	PRKCSH_ENST00000591462.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.G440R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	440	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ACCCAAACTCGGGGGCTCTCC	0.647000													4	132					0	0	1	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618405	89618405	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr4:89618405G>A	ENST00000323061.5	-	1	981	c.501C>T	c.(499-501)gcC>gcT	p.A167A	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	167					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CGTCATGTTTGGCCCCCGCGG	0.602000													45	115					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													3	12					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36698073	36698073	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:36698073G>A	ENST00000399881.3	+	15	1648	c.1611G>A	c.(1609-1611)atG>atA	p.M537I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	537	Segment S8.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGCTGGAATGAGCTTTCCTG	0.428000													7	18					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:35232200T>G	ENST00000392232.3	+	6	1214	c.1046T>G	c.(1045-1047)gTc>gGc	p.V349G	ZNF181_ENST00000492450.1_Missense_Mutation_p.V305G|ZNF181_ENST00000459757.1_Missense_Mutation_p.V304G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413000													3	34					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25233874	25233874	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:25233874C>T	ENST00000399916.1	-	5	1059	c.621G>A	c.(619-621)ccG>ccA	p.P207P	RUNX3_ENST00000338888.3_Silent_p.P207P|RUNX3_ENST00000308873.6_Silent_p.P193P|RUNX3_ENST00000540420.1_Silent_p.P100P|RUNX3_ENST00000496967.1_5'UTR	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	193	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGTCAGGGAACGGCTTGGTCT	0.632000													12	31					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195692347	195692347	+	RNA	SNP	G	G	A	rs62282794	by1000genomes	TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:195692347G>A	ENST00000427841.1	-	0	2155					NR_003264.2																						TTCCTCCAGTGCTCCTCAAAG	0.572000													5	20					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39624555	39624555	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624555G>C	ENST00000265708.4	-	14	1422	c.1319C>G	c.(1318-1320)tCa>tGa	p.S440*	ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S314*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S440*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S421*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	440	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTTTCTTTTGACATAAACTG	0.343000													4	113					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557000													4	134					0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932284	41932284	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:41932284C>T	ENST00000321702.2	-	3	853	c.400G>A	c.(400-402)Ggt>Agt	p.G134S	B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	134	Poly-Gly.				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						CTGCCACCACCTCCAGGCAGC	0.632000													5	40					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354070	45354070	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr20:45354070G>A	ENST00000359271.2	+	2	645	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	132			R -> W (in ATS).			endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCACGGCAGCGGGGAGTGCTG	0.637000													10	75					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122659912	122659912	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr11:122659912C>T	ENST00000284273.5	+	6	1251	c.876C>T	c.(874-876)agC>agT	p.S292S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	292	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCAGCACCAGCGAGGGTTGGA	0.527000													64	153					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr21:11058330G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378000													14	155					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45853081	45853081	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr20:45853081C>T	ENST00000311275.7	-	19	3338	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	ZMYND8_ENST00000540497.1_Missense_Mutation_p.A977T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A978T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A1056T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A983T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A1003T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A897T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A951T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A1003T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A920T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A1049T			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1029							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGCAGTTGGCGCACCACTGC	0.582000													4	156					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922246	159922246	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:159922246G>A	ENST00000368093.3	-	3	586	c.470C>T	c.(469-471)tCt>tTt	p.S157F	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	157	Ig-like C2-type.					integral to membrane		p.S157Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCTCCACAGAGCACACCAG	0.547000													14	100					0	0	1	0	0
PCDHAC1	0	broad.mit.edu	37	5	140306725	140306725	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:140306725G>A	ENST00000253807.2	+	1	248	c.248G>A	c.(247-249)cGc>cAc	p.R83H	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R83H|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGGACCGCGAACAGCTG	0.612000													16	25					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232601028	232601028	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:232601028T>G	ENST00000366630.1	-	8	2736	c.2378A>C	c.(2377-2379)aAa>aCa	p.K793T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	793	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTTCTGATTTATGGGCTGC	0.483000													34	82					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129185799	129185799	+	Nonsense_Mutation	SNP	T	T	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:129185799T>G	ENST00000296266.3	+	9	975	c.783T>G	c.(781-783)taT>taG	p.Y261*	IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Y60*|IFT122_ENST00000348417.2_Nonsense_Mutation_p.Y210*|IFT122_ENST00000349441.2_Intron	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	210					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCAACAGATATATTCAGGAAA	0.468000													31	76					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39624425	39624425	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624425G>A	ENST00000265708.4	-	14	1552	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ADAM2_ENST00000379853.2_Silent_p.I357I|ADAM2_ENST00000521880.1_Silent_p.I483I|ADAM2_ENST00000347580.4_Silent_p.I464I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	483	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCTATACAGATCCATTGAT	0.388000													5	120					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430737	57430737	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:57430737G>A	ENST00000442789.2	-	21	2481	c.2194C>T	c.(2194-2196)Cgg>Tgg	p.R732W	MYO1A_ENST00000544473.1_Missense_Mutation_p.R570W|MYO1A_ENST00000300119.3_Missense_Mutation_p.R732W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	732	IQ 2.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGTTTCCCCGAAACCAAGAG	0.517000													37	80					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3094169	3094169	+	Splice_Site	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr18:3094169G>C	ENST00000356443.4	-	26	4196	c.3864_splice	c.e26+1	p.P1288_splice	MYOM1_ENST00000400569.3_Splice_Site_p.P1288_splice|MYOM1_ENST00000261606.7_Splice_Site_p.P1192_splice	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1288						striated muscle myosin thick filament	structural constituent of muscle	p.P1288R(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAAACCTACCGGGCCTTCAAA	0.408000													12	29					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	31015025	31015025	+	Silent	SNP	C	C	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:31015025C>A	ENST00000298139.5	+	33	4210	c.3961C>A	c.(3961-3963)Cga>Aga	p.R1321R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1321					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGATGTTATCCGAAACCCTCC	0.483000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				3	32					0.004672	0.00473874	1	1	0
PRSS3P2	0	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													7	17	---	---	---	---					
FAM186B	84070	broad.mit.edu	37	12	49994194	49994203	+	Frame_Shift_Del	DEL	GTGTCCTTGC	GTGTCCTTGC	-			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:49994194_49994203delGTGTCCTTGC	ENST00000544141.1	-	4	1549_1558	c.950_959delGCAAGGACAC	c.(949-960)atfs	p.SKDT317fs	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Frame_Shift_Del_p.SKDT407fs|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	407						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGCTCTCAGTGTCCTTGCTGCCGAACAC	0.538													21	85	---	---	---	---					
LINC00521	0	broad.mit.edu	37	14	94467784	94467784	+	RNA	DEL	G	G	-			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr14:94467784delG	ENST00000444118.1	+	0	862					NR_024182.1																						GCGTAATGCTGGGGGGCCCTC	0.667													2	4	---	---	---	---					
SCNN1B	0	broad.mit.edu	37	16	23379203	23379205	+	In_Frame_Del	DEL	ACT	ACT	-	rs138004955		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr16:23379203_23379205delACT	ENST00000343070.2	+	5	979_981	c.803_805delACT	c.(802-807)cat>c	p.HY268del	SCNN1B_ENST00000568923.1_In_Frame_Del_p.HY241del|SCNN1B_ENST00000568085.1_In_Frame_Del_p.HY268del|SCNN1B_ENST00000307331.5_In_Frame_Del_p.HY313del	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	268					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTCTACCCTCACTATGGCAACTG	0.537													36	133	---	---	---	---					
TSPAN6	7105	broad.mit.edu	37	X	99890723	99890723	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:99890723delA	ENST00000373020.4	-	2	219	c.108delT	c.(106-108)ctfs	p.L36fs	TSPAN6_ENST00000496771.1_5'UTR	NM_003270.2	NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	36					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						TGCCAACTGCAAGAAGGATAA	0.448													2	4	---	---	---	---