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
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	45					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29195371	29195371	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:29195371G>C	ENST00000321990.4	+	12	3632	c.3254G>C	c.(3253-3255)aGa>aCa	p.R1085T		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1085					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GACTGGAAAAGAAGAGCTGAA	0.328000													9	30					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			27	20					0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18570817	18570817	+	Silent	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr22:18570817C>G	ENST00000329627.6	+	6	1100	c.894C>G	c.(892-894)ctC>ctG	p.L298L	PEX26_ENST00000428061.2_Silent_p.L249L|PEX26_ENST00000399744.3_Silent_p.L298L	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	298					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTCTCGCCTCTACCAGCTCC	0.617000													15	114					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76556067	76556067	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:76556067C>T	ENST00000307431.8	+	18	3050	c.2665C>T	c.(2665-2667)Ctt>Ttt	p.L889F	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L841F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L893F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L817F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	890	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAGGCCTCCCTTCAAGTGGA	0.537000													36	69					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38336828	38336828	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr22:38336828C>T	ENST00000215957.6	+	16	2709	c.2583C>T	c.(2581-2583)gaC>gaT	p.D861D	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	861						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCCCCAGAGACAAGAGCTAAC	0.562000													8	39					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10222295	10222295	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:10222295C>T	ENST00000418404.3	-	26	3713	c.3550G>A	c.(3550-3552)Gag>Aag	p.E1184K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1184K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1184K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1184					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGGTGGCCTCCTCCAGGTCC	0.592000													14	118					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691315	153691315	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:153691315C>T	ENST00000304337.2	-	2	1662	c.842G>A	c.(841-843)cGa>cAa	p.R281Q		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	281	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CACCACTCTTCGTTGCTGGGC	0.403000													7	101					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160760	12160760	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:12160760C>T	ENST00000263035.4	+	15	2477	c.2415C>T	c.(2413-2415)ctC>ctT	p.L805L		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	805					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTAAGACCCTCGTGTTCTGCT	0.473000													70	154					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36639940	36639940	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:36639940A>T	ENST00000373448.2	-	3	2517	c.2279T>A	c.(2278-2280)cTg>cAg	p.L760Q	TTI1_ENST00000373447.3_Missense_Mutation_p.L760Q|TTI1_ENST00000449821.1_Missense_Mutation_p.L760Q	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	760							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGAGCATGCAGAACGCTGAC	0.478000													10	18					0	0	1	0	0
LTV1	84946	broad.mit.edu	37	6	144178465	144178465	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:144178465C>T	ENST00000367576.5	+	5	557	c.423C>T	c.(421-423)gaC>gaT	p.D141D		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	141	Asp-rich.									breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TTGATCCTGACATTGTTGCAG	0.378000													11	260					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612534	44612534	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:44612534C>T	ENST00000273320.3	+	6	2361	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.F644F	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GAAAATCCTTCAATCAAAACT	0.418000													21	24					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400430	43400430	+	Missense_Mutation	SNP	T	T	A	rs143701970		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:43400430T>A	ENST00000244533.3	+	1	942	c.583T>A	c.(583-585)Tgt>Agt	p.C195S	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.C238S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	238						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCGTGGGGCCTGTGGAGAGCT	0.642000													5	94					0	0	1	0	0
FBXO33	254170	broad.mit.edu	37	14	39870602	39870602	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:39870602T>C	ENST00000298097.7	-	3	1511	c.1174A>G	c.(1174-1176)Ata>Gta	p.I392V	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	392										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TCTAGTGGTATACTGGGTTTC	0.388000													18	49					0	0	1	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27114996	27114996	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:27114996G>A	ENST00000377459.1	+	1	136	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	30					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						CCCGTGGGCCGAGTGCACCGC	0.642000													5	79					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165552193	165552193	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:165552193G>C	ENST00000375458.2	-	11	1930	c.1709C>G	c.(1708-1710)aCt>aGt	p.T570S	COBLL1_ENST00000342193.4_Missense_Mutation_p.T608S|COBLL1_ENST00000392717.2_Missense_Mutation_p.T646S|COBLL1_ENST00000194871.6_Missense_Mutation_p.T675S|COBLL1_ENST00000409184.3_Missense_Mutation_p.T608S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	646										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGCAGTATCAGTTTCATGTGC	0.378000													71	196					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17962391	17962391	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:17962391A>G	ENST00000381254.2	+	14	2126	c.1912A>G	c.(1912-1914)Agg>Ggg	p.R638G	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R638G	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	638					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGAATCAGAAAGGTACACTGC	0.383000								Homologous recombination					11	48					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981899	7981899	+	Silent	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:7981899C>A	ENST00000328600.2	-	2	1421	c.1260G>T	c.(1258-1260)ggG>ggT	p.G420G		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	420	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGCTGAATCCCTTCAGCTG	0.542000													13	63					7.03913e-09	7.65569e-09	1	1	0
SEPT11	55752	broad.mit.edu	37	4	77940386	77940386	+	Silent	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:77940386C>A	ENST00000264893.6	+	6	957	c.756C>A	c.(754-756)gcC>gcA	p.A252A	SEPT11_ENST00000502584.1_Silent_p.A252A|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Silent_p.A262A|SEPT11_ENST00000510515.1_Silent_p.A262A|SEPT11_ENST00000505788.1_Silent_p.A252A	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	252					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGGCAAAGGCCAGGCAGTACC	0.502000													3	7					0.150653	0.150653	1	1	0
CCDC91	55297	broad.mit.edu	37	12	28459840	28459840	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:28459840C>A	ENST00000545336.1	+	8	852	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	CCDC91_ENST00000381256.1_Missense_Mutation_p.L145I|CCDC91_ENST00000539107.1_Missense_Mutation_p.L145I|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.L115I|CCDC91_ENST00000381259.1_Missense_Mutation_p.L145I			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	145					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGAGATTAAACTCAAAGTATC	0.318000													9	48					1.12685e-05	1.19079e-05	1	1	0
RAX	30062	broad.mit.edu	37	18	56939749	56939749	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:56939749C>G	ENST00000334889.3	-	2	573	c.387G>C	c.(385-387)gaG>gaC	p.E129D	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	129					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TGGGCTGTTCCTCCTCTGACA	0.667000													16	61					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	960882	960882	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:960882T>A	ENST00000340908.4	+	1	24	c.24T>A	c.(22-24)ttT>ttA	p.F8L	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000540360.1_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGAAAGATTTTTGCTCAGTAT	0.338000													6	16					0	0	1	0	0
EGLN3	112399	broad.mit.edu	37	14	34419917	34419917	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:34419917A>C	ENST00000547327.2	-	1	370	c.42T>G	c.(40-42)atT>atG	p.I14M	EGLN3_ENST00000250457.3_Missense_Mutation_p.I14M|EGLN3_ENST00000553215.1_Missense_Mutation_p.I14M			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	14					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	ACTCCAGGGCAATTTTCTCCA	0.617000													23	43					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668475	176668475	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:176668475C>T	ENST00000367662.3	+	8	4150	c.2986C>T	c.(2986-2988)Ctg>Ttg	p.L996L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	996					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTCAGTGCACCTGGGCCCCTT	0.532000													76	138					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70045062	70045062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:70045062G>A	ENST00000432941.1	-	9	999	c.797C>T	c.(796-798)tCg>tTg	p.S266L	PBLD_ENST00000336578.1_Intron|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000358769.2_Intron|PBLD_ENST00000309049.4_Intron	NM_001033083.1	NP_001028255.1	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	0					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CACTAGCTTCGAATTAGGCAA	0.398000													19	34					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68074073	68074073	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:68074073C>T	ENST00000262210.5	+	20	2582	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.P506S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	886	Glu-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCTATAGTTCCTGCTCTTCA	0.358000													40	95					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197444966	197444966	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:197444966G>A	ENST00000273582.5	-	0	466				KIAA0226_ENST00000389665.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T34M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCCACCGTCGTCTTCAAATT	0.502000													9	50					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102650335	102650335	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:102650335G>A	ENST00000279441.4	-	2	283	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	83					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		ATCACCTCCAGAGTGTCAGTG	0.483000													24	17					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10106792	10106792	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:10106792G>A	ENST00000264828.3	-	15	1568	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	495	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGCCCGGGGAGACCCTTGGGG	0.592000													15	122					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64536774	64536774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:64536774C>A	ENST00000377390.3	-	7	1037	c.700G>T	c.(700-702)Gag>Tag	p.E234*	SF1_ENST00000334944.5_Nonsense_Mutation_p.E234*|SF1_ENST00000377387.1_Nonsense_Mutation_p.E359*|SF1_ENST00000433274.2_Nonsense_Mutation_p.E208*|SF1_ENST00000227503.9_Nonsense_Mutation_p.E234*|SF1_ENST00000377394.3_Nonsense_Mutation_p.E234*|SF1_ENST00000422298.2_Nonsense_Mutation_p.E119*|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	234					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TTCTGGTCCTCTGGAGTCTCG	0.478000													29	95					2.2171e-23	2.42903e-23	1	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140865344	140865344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr5:140865344C>T	ENST00000306593.1	+	1	604	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTTGGATCGAGAGAAGCA	0.597000													5	39					0	0	1	0	0
IFNA4	3441	broad.mit.edu	37	9	21187008	21187008	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr9:21187008G>A	ENST00000421715.1	-	1	590	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	175					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAAACGAGAGGGATCTCATG	0.398000													6	132					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207631831	207631831	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:207631831A>C	ENST00000236980.6	+	2	762	c.414A>C	c.(412-414)gaA>gaC	p.E138D	FASTKD2_ENST00000403094.3_Missense_Mutation_p.E138D|FASTKD2_ENST00000402774.3_Missense_Mutation_p.E138D	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	138					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTAATCATGAAGTCTCCAATG	0.363000													11	68					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135784313	135784313	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:135784313T>C	ENST00000367800.4	-	6	1097	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R|AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	294						adherens junction|cilium|microtubule basal body		p.Q294R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTATCATCTTGCATGCTGTC	0.313000													5	67					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9668007	9668007	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:9668007G>A	ENST00000310823.3	-	5	709	c.527C>T	c.(526-528)tCa>tTa	p.S176L	ADAM17_ENST00000497134.1_Missense_Mutation_p.S176L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	176					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTGCAAACGTGAAACATTCTT	0.343000													24	35					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148036	129148036	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chrX:129148036A>G	ENST00000540052.1	+	3	1332	c.1288A>G	c.(1288-1290)Atg>Gtg	p.M430V	BCORL1_ENST00000218147.7_Missense_Mutation_p.M430V|BCORL1_ENST00000303743.5_Missense_Mutation_p.M430V|BCORL1_ENST00000359304.2_Missense_Mutation_p.M430V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	430	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGCACCAGCTATGCAAAAAGT	0.602000													24	9					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21487589	21487589	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:21487589A>G	ENST00000313654.9	+	53	7035	c.6794A>G	c.(6793-6795)aAt>aGt	p.N2265S	LAMA3_ENST00000399516.3_Missense_Mutation_p.N2209S|LAMA3_ENST00000269217.6_Missense_Mutation_p.N656S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N600S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2265	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAGACACCAATCTCACAACT	0.408000													63	105					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375821	375821	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:375821C>T	ENST00000342640.4	-	1	192	c.150G>A	c.(148-150)ctG>ctA	p.L50L	THEG_ENST00000346878.2_Silent_p.L50L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	50					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCATTGTCCAGGTCCTGGC	0.672000													27	55					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26888134	26888134	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:26888134G>C	ENST00000374168.2	+	17	1724	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E533Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E432Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E513Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E432Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E508Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	524	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CAAAACTGTGGAGTATCTGCA	0.582000													6	69					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805489	54805489	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:54805489A>G	ENST00000306858.7	+	5	1836	c.1720A>G	c.(1720-1722)Agt>Ggt	p.S574G		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	574										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTCAGGGAAGTGAGACACC	0.443000													16	34					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216367	8216367	+	Silent	SNP	G	G	A	rs150417950		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	243					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGCCTCCCCGCTGCGGACCT	0.697000													38	82					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25434176	25434176	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:25434176C>T	ENST00000278886.6	-	24	4133	c.4060G>A	c.(4060-4062)Gcc>Acc	p.A1354T	NINL_ENST00000422516.1_Missense_Mutation_p.A1005T|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1354					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGTTTCTCGGCGCCTCGCTGC	0.547000													30	35					0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49513116	49513116	+	Silent	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:49513116G>C	ENST00000413176.2	+	7	1559	c.411G>C	c.(409-411)ctG>ctC	p.L137L	RUVBL2_ENST00000595090.1_Silent_p.L182L|RUVBL2_ENST00000601968.1_Silent_p.L137L			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	182					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TTGAGTCCCTGACCAAGGACA	0.612000													9	109					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48842559	48842559	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:48842559C>G	ENST00000314191.2	-	18	1962	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	PRKDC_ENST00000338368.3_Missense_Mutation_p.E636Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	636					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCTTGTTTCTCAGGGAGAATC	0.323000								Non-homologous end-joining					4	44					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805265	22805265	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:22805265C>T	ENST00000361524.3	-	4	2765	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N	ZNF521_ENST00000584787.1_Missense_Mutation_p.D653N|ZNF521_ENST00000538137.2_Missense_Mutation_p.D873N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	873					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCGCTCCCATCGTGACTGTTG	0.527000			T	PAX5	ALL								25	59					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9463337	9463337	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:9463337G>C	ENST00000281419.3	+	6	898	c.558G>C	c.(556-558)gaG>gaC	p.E186D	ASAP2_ENST00000315273.4_Missense_Mutation_p.E186D	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	186					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TTGCCGAAGAGATGGAAAAGG	0.537000													34	107					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4923965	4923965	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:4923965G>T	ENST00000320785.5	+	20	2286	c.1929G>T	c.(1927-1929)atG>atT	p.M643I	KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	643					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCTGGAAATGGAGAAGAGGT	0.632000													6	38					3.59834e-05	3.74932e-05	1	1	0
ZNF584	201514	broad.mit.edu	37	19	58926999	58926999	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:58926999G>C	ENST00000306910.4	+	3	801	c.278G>C	c.(277-279)aGa>aCa	p.R93T	ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000322834.7_Missense_Mutation_p.R85T|ZNF584_ENST00000593920.1_Missense_Mutation_p.R48T|ZNF584_ENST00000599238.1_Missense_Mutation_p.R48T	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GAAGCCAGGAGAGGTTTTGGT	0.542000													5	42					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409531	28409531	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:28409531C>G	ENST00000337532.5	-	10	958	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q	MPP7_ENST00000540098.1_Missense_Mutation_p.E228Q|MPP7_ENST00000375732.1_Missense_Mutation_p.E228Q|MPP7_ENST00000445954.2_Missense_Mutation_p.E103Q|MPP7_ENST00000375719.3_Missense_Mutation_p.E228Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	228	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACCTTGCCTTCTTTTGATGGT	0.388000													11	35					0	0	1	0	0
ECHDC1	55862	broad.mit.edu	37	6	127611032	127611032	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:127611032T>A	ENST00000531967.1	-	6	1409	c.906A>T	c.(904-906)aaA>aaT	p.K302N	ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000430841.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.K279N|ECHDC1_ENST00000454859.3_Missense_Mutation_p.K296N|ECHDC1_ENST00000454591.2_Missense_Mutation_p.K221N	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	302							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TAAATTTTCCTTTCTTAGCAA	0.343000													32	53					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37011806	37011806	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr13:37011806C>A	ENST00000418263.1	+	3	685	c.335C>A	c.(334-336)gCc>gAc	p.A112D	CCNA1_ENST00000255465.4_Missense_Mutation_p.A113D|CCNA1_ENST00000449823.1_Missense_Mutation_p.A69D|CCNA1_ENST00000440264.1_Missense_Mutation_p.A69D|CCNA1_ENST00000463403.1_3'UTR	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	113					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCAGAAAATGCCTTCCCTCCA	0.478000													6	116					3.59834e-05	3.74932e-05	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63447862	63447862	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:63447862G>A	ENST00000322893.7	-	6	938	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	KCNH5_ENST00000420622.2_Missense_Mutation_p.L224F|KCNH5_ENST00000394968.1_Missense_Mutation_p.L166F|KCNH5_ENST00000394964.2_Missense_Mutation_p.L166F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	224					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TAGAAGGTAAGAATTAAAATC	0.388000													5	36					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134072467	134072467	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:134072467G>A	ENST00000427060.2	-	1	136	c.59C>T	c.(58-60)cCc>cTc	p.P20L	SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000518565.1_Intron	NM_006748.3	NP_006739.2	Q13239	SLAP1_HUMAN	Src-like-adaptor	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GAGACAGACGGGGAAAGTCAA	0.547000													12	40					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139085612	139085612	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:139085612A>G	ENST00000333188.5	-	15	1863	c.1682T>C	c.(1681-1683)aTg>aCg	p.M561T	COPB2_ENST00000507777.1_Missense_Mutation_p.M532T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	561					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TAGGAGATACATCGTCCTATA	0.408000													27	76					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79973010	79973010	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:79973010G>A	ENST00000306729.7	+	13	1510	c.1413G>A	c.(1411-1413)ctG>ctA	p.L471L	ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306739.4_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	481							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AACGGTGCCTGGGACCAGAGC	0.627000			T	TFE3	alveolar soft part sarcoma								7	36					0	0	1	0	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859652	31859652	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr21:31859652C>T	ENST00000334055.3	-	1	103	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	6						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CATCCACAGCCGTAGCCATAG	0.567000													39	74					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196309663	196309663	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:196309663T>C	ENST00000367433.5	-	16	1692	c.1591A>G	c.(1591-1593)Aat>Gat	p.N531D	KCNT2_ENST00000367431.4_Missense_Mutation_p.N481D|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.N142D|KCNT2_ENST00000294725.8_Missense_Mutation_p.N531D			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	531	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTTTTTATTATCCTCCCTC	0.303000													12	59					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809319	48809319	+	Missense_Mutation	SNP	G	G	A	rs150634127	by1000genomes	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:48809319G>A	ENST00000309835.3	+	1	1557	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H	STON1_ENST00000406226.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R516H|STON1_ENST00000404752.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R516H					stonin 1									p.R516H(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGCTGATGCGTTTCAAGACT	0.413000													5	89					0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38158641	38158641	+	Silent	SNP	C	C	T	rs142159015		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:38158641C>T	ENST00000373055.1	+	2	432	c.159C>T	c.(157-159)ctC>ctT	p.L53L	CDCA8_ENST00000327331.2_Silent_p.L53L	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	53	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with INCENP.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGATAACCTCTACAACATCG	0.577000													6	53					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159672550	159672550	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:159672550G>A	ENST00000297267.9	+	17	5251	c.5051G>A	c.(5050-5052)gGa>gAa	p.G1684E	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1621E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1684	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCACCCCAGGAGATGTGGTC	0.537000													5	12					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47470066	47470066	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:47470066C>T	ENST00000265565.5	-	4	759	c.347G>A	c.(346-348)cGt>cAt	p.R116H	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	116					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAAAGGTGAACGAAATACATC	0.557000													33	55					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258578	16258578	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:16258578C>T	ENST00000375759.3	+	11	6047	c.5843C>T	c.(5842-5844)cCt>cTt	p.P1948L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1948					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCACCACCCCTCGGAGGGGA	0.592000													35	50					0	0	1	0	0
NINJ2	4815	broad.mit.edu	37	12	675029	675029	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:675029T>C	ENST00000433832.2	-	2	441	c.241A>G	c.(241-243)Att>Gtt	p.I81V	NINJ2_ENST00000397265.3_Intron|NINJ2_ENST00000305108.4_Intron|NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000542920.1_Intron			Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CCTGTGCCAATGCAGGGTGGC	0.657000													12	13					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2760764	2760764	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:2760764C>G	ENST00000344100.3	+	32	3970	c.3970C>G	c.(3970-3972)Ctt>Gtt	p.L1324V	CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000347598.4_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1363					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCACCCCCCTCTTGCTGTGCT	0.602000													4	90					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	645442	645442	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:645442C>G	ENST00000266383.5	+	3	345	c.332C>G	c.(331-333)cCt>cGt	p.P111R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	111						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGAACAAGCCTGTCCCCTGG	0.448000													33	45					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813759	2813759	+	Missense_Mutation	SNP	G	G	C	rs149404678		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:2813759G>C	ENST00000301740.8	+	11	3779	c.3230G>C	c.(3229-3231)aGa>aCa	p.R1077T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1077	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGAAGTGAGACAGAGTCAT	0.483000													4	89					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47514744	47514744	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:47514744G>A	ENST00000273859.3	+	2	456	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ATP10D_ENST00000504445.1_Missense_Mutation_p.E63K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	63					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTTCAAGGATGAGTATGAGAA	0.458000													4	52					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57181028	57181028	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:57181028G>T	ENST00000554643.1	+	6	1205	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	HSD17B6_ENST00000322165.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000554150.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000555805.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000555159.1_Missense_Mutation_p.D286Y			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	286					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AGCTGGCTGGGATGCTAAATT	0.468000													11	41					3.86212e-05	3.99622e-05	1	1	0
DHRS7B	25979	broad.mit.edu	37	17	21075498	21075498	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:21075498G>A	ENST00000395511.3	+	2	508	c.188G>A	c.(187-189)gGg>gAg	p.G63E	DHRS7B_ENST00000579303.1_Missense_Mutation_p.G48E	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	63						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GCCACCTCAGGGCTGGGCAAA	0.687000													3	13					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968445	69968445	+	Missense_Mutation	SNP	C	C	T	rs112443855		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:69968445C>T	ENST00000299293.2	+	10	1747	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	FRS2_ENST00000397997.2_Missense_Mutation_p.R413W|FRS2_ENST00000549921.1_Missense_Mutation_p.R413W|FRS2_ENST00000550389.1_Missense_Mutation_p.R413W	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	413					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTCAAGGCGTCGGGACTGTAC	0.398000													291	870					0	0	1	0	0
MIR518B	574474	broad.mit.edu	37	19	54206032	54206032	+	RNA	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:54206032G>A	ENST00000385127.1	+	0	42					NR_030196.1																						TCTGTTGTCTGAAAGAAAACA	0.448000													14	25					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150920153	150920153	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr5:150920153T>A	ENST00000261800.5	-	10	9026	c.9014A>T	c.(9013-9015)aAt>aTt	p.N3005I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3005	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGTTATCATTGACGTCCAG	0.542000													7	17					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30890112	30890112	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:30890112C>T	ENST00000265299.6	+	10	1565	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	496										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGCCTCGTCCTGGCCCTCG	0.602000													6	21					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125131953	125131953	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:125131953C>T	ENST00000522917.1	+	41	5702	c.5496C>T	c.(5494-5496)atC>atT	p.I1832I	FER1L6_ENST00000399018.1_Silent_p.I1832I|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1832						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcattctcatcatcctcatca	0.468000													5	111					0	0	1	0	0
UBE2R2	54926	broad.mit.edu	37	9	33911983	33911983	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr9:33911983C>G	ENST00000263228.3	+	4	575	c.384C>G	c.(382-384)atC>atG	p.I128M		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	128					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TAAGTGTAATCTCACTGCTTA	0.363000													38	14					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36964259	36964259	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:36964259C>T	ENST00000454319.1	-	3	245	c.111G>A	c.(109-111)gaG>gaA	p.E37E	ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000424129.2_Silent_p.E37E|ZNF566_ENST00000392170.2_Silent_p.E37E|ZNF566_ENST00000434377.2_Silent_p.E37E	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGCTGTAATTCTCCAACATCA	0.438000													7	93					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516170	78516170	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:78516170C>T	ENST00000397909.2	+	16	4373	c.4200C>T	c.(4198-4200)ctC>ctT	p.L1400L	NAV3_ENST00000536525.2_Silent_p.L1400L|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Silent_p.L1400L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1400	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAGCCTGCTCATGAGAACGG	0.552000										HNSCC(70;0.22)			4	78					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100084694	100084694	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:100084694G>A	ENST00000423930.1	+	3	478	c.319G>A	c.(319-321)Gag>Aag	p.E107K	NYAP1_ENST00000454988.1_Missense_Mutation_p.E50K|NYAP1_ENST00000300179.2_Missense_Mutation_p.E107K			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	107																	GGGCCTCACAGAGGACAGCAG	0.721000													5	41					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648476	20648476	+	Splice_Site	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:20648476T>A	ENST00000219151.4	-	9	1346	c.136_splice	c.e9+1	p.S46_splice	ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000307493.4_Intron			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	399					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCTACCTACTGTGTGTGATG	0.453000													34	45					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145657761	145657761	+	Silent	SNP	G	G	A	rs34599999	byFrequency	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:145657761G>A	ENST00000409379.3	-	23	3671	c.3642C>T	c.(3640-3642)ccC>ccT	p.P1214P		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1214					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	p.P1214P(1)|p.P1055P(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGTGCCGGCGGGCAGGCTCT	0.647000													4	76					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61252826	61252826	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:61252826C>T	ENST00000338608.2	+	6	652	c.527C>T	c.(526-528)aCg>aTg	p.T176M	PPP1R32_ENST00000432063.2_Missense_Mutation_p.T176M|RP11-286N22.8_ENST00000544880.1_3'UTR	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	176																	CGCTTCATGACGTCGGAGTAC	0.622000													9	38					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412477	77412477	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:77412477G>A	ENST00000308488.6	-	6	2099	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	RSF1_ENST00000480887.1_Silent_p.D347D|RSF1_ENST00000360355.2_Silent_p.D568D			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	599					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATCTTTGTGCGTCCTTATCAA	0.428000													25	87					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5791016	5791016	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:5791016G>C	ENST00000328090.5	+	15	6257	c.5632G>C	c.(5632-5634)Gag>Cag	p.E1878Q		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1878																	CAACAACCAAGAGGACTGGGG	0.512000													16	42					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590935	141590935	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:141590935G>A	ENST00000442267.2	-	8	1364	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	430						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGAGGAGACGAGGCTGCTGG	0.537000													4	30					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74290542	74290542	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr15:74290542C>T	ENST00000565898.1	+	2	411	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PML_ENST00000563500.1_Silent_p.F109F|PML_ENST00000436891.3_Silent_p.F109F|PML_ENST00000435786.2_Silent_p.F109F|PML_ENST00000395132.2_Silent_p.F109F|PML_ENST00000395135.3_Silent_p.F109F|PML_ENST00000359928.4_Silent_p.F109F|PML_ENST00000354026.6_Silent_p.F109F|PML_ENST00000268058.3_Silent_p.F109F|PML_ENST00000268059.6_Silent_p.F109F|PML_ENST00000569965.1_Silent_p.F109F|PML_ENST00000569477.1_Silent_p.F109F|PML_ENST00000567543.1_Silent_p.F109F|PML_ENST00000564428.1_Silent_p.F109F			P29590	PML_HUMAN	promyelocytic leukemia	109					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACGTCTTTTTCGAGAGTCTGC	0.632000			T	"""RARA, PAX5"""	"""APL, ALL"""								15	32					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91871385	91871385	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:91871385C>A	ENST00000394507.1	-	5	848	c.65G>T	c.(64-66)aGt>aTt	p.S22I	KRIT1_ENST00000394503.2_Missense_Mutation_p.S22I|KRIT1_ENST00000340022.2_Missense_Mutation_p.S22I|KRIT1_ENST00000394505.2_Missense_Mutation_p.S22I|KRIT1_ENST00000412043.2_Missense_Mutation_p.S22I	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	22					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAATTGAGACTGGCAGTATT	0.303000													61	274					4.46356e-37	4.96321e-37	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57769098	57769098	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:57769098C>T	ENST00000371030.2	+	1	3024	c.3024C>T	c.(3022-3024)ccC>ccT	p.P1008P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1008						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGAGGACCCCAGCTGTTCCA	0.647000													4	28					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957357	12957357	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:12957357G>A	ENST00000276297.4	-	9	2898	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L	DLC1_ENST00000520226.1_Missense_Mutation_p.S319L|DLC1_ENST00000358919.2_Missense_Mutation_p.S393L|DLC1_ENST00000512044.2_Missense_Mutation_p.S427L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	830					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTTATTCCCCGAGGGGGAGAA	0.577000													4	57					0	0	1	0	0
RCAN3	11123	broad.mit.edu	37	1	24859680	24859680	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:24859680G>C	ENST00000374395.4	+	4	790	c.477G>C	c.(475-477)caG>caC	p.Q159H	RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.Q101H|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.Q149H	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	159					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GGTGGAAGCAGAGCGAAGATG	0.507000													16	25					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44171825	44171825	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chrX:44171825A>T	ENST00000420999.1	-	2	303	c.220T>A	c.(220-222)Ttt>Att	p.F74I		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	74							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TGTTTATCAAAGGCTACCCAT	0.403000													6	7					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47563359	47563359	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:47563359C>T	ENST00000285039.7	-	4	615	c.316G>A	c.(316-318)Gta>Ata	p.V106I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	106	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAACAAGTACGATACCTGCA	0.453000													15	29					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67857567	67857567	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:67857567C>G	ENST00000388833.3	+	5	641	c.264C>G	c.(262-264)ttC>ttG	p.F88L	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F142L|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	88					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TAGAGGACTTCAAAACGTACA	0.498000													13	26					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47852933	47852933	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:47852933C>T	ENST00000371764.4	+	14	1675	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	556	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGAACAGCACGTGCTGGCAG	0.537000													18	85					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428753	56428753	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:56428753C>T	ENST00000262032.5	+	12	1763	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	IKZF4_ENST00000431367.2_Missense_Mutation_p.R364W|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.R466W|IKZF4_ENST00000547791.1_Missense_Mutation_p.R421W			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	466					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACGAAGATCGGGTTGCGGG	0.667000													14	19					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134072440	134072440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:134072440C>T	ENST00000395352.3	-	2	365	c.17G>A	c.(16-18)tGg>tAg	p.W6*	SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000338087.5_5'UTR|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Nonsense_Mutation_p.W6*|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000427060.2_Nonsense_Mutation_p.W29*	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	Src-like-adaptor	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGGTGATGCCCAGAGCCTGTG	0.567000													14	66					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42473056	42473056	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:42473056C>G	ENST00000545399.1	-	20	2892	c.2739G>C	c.(2737-2739)caG>caC	p.Q913H	ATP1A3_ENST00000543770.1_Missense_Mutation_p.Q911H|ATP1A3_ENST00000602133.1_Missense_Mutation_p.Q870H|ATP1A3_ENST00000302102.5_Missense_Mutation_p.Q900H	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	900					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCACCTTCCTCTGCTCGTATG	0.622000													6	64					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580529	580529	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:580529G>A	ENST00000327228.3	+	1	163	c.121G>A	c.(121-123)Gac>Aac	p.D41N		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	41	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGACCTCTTCGACGTGGACGG	0.567000													6	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611294	179611294	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:179611294C>G	ENST00000360870.5	-	46	16055	c.15833G>C	c.(15832-15834)aGa>aCa	p.R5278T	TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8797	Ig-like 33.						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)			TGCCACCACTCTTTCTTCCTG	0.438000													21	52					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25283862	25283862	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr13:25283862G>A	ENST00000218548.6	+	19	3010	c.2677G>A	c.(2677-2679)Gtc>Atc	p.V893I	ATP12A_ENST00000381946.3_Missense_Mutation_p.V887I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	887					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTATTTCACCGTCTATGCACA	0.502000													57	139					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723727	142723727	+	Missense_Mutation	SNP	G	G	A	rs143573729	byFrequency	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:142723727G>A	ENST00000350513.2	-	1	555	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165S(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGATTTGCGGAAGGTAAAC	0.398000													4	91					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35485180	35485180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:35485180G>A	ENST00000357182.4	-	4	429	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000317538.5_Nonsense_Mutation_p.Q68*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	68					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAGAAAGCTGAAAGCCTGGG	0.368000													16	19					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6001995	6001995	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:6001995C>T	ENST00000303657.5	-	15	1839	c.1690G>A	c.(1690-1692)Gtg>Atg	p.V564M	RFX2_ENST00000592546.1_Missense_Mutation_p.V539M|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.V564M	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCCGCTGCACCACACTCTCC	0.657000													17	36					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4357271	4357271	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:4357271C>T	ENST00000599840.1	+	9	1053	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	MPND_ENST00000359935.4_Missense_Mutation_p.R290W|MPND_ENST00000262966.8_Missense_Mutation_p.R340W|AC007292.3_ENST00000593524.1_RNA			Q8N594	MPND_HUMAN	MPN domain containing	340	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTTCCTGCGGGGCCTGTC	0.652000													6	23					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140922441	140922441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:140922441C>A	ENST00000389328.4	-	20	3222	c.3208G>T	c.(3208-3210)Gaa>Taa	p.E1070*	TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.E963*|TRAPPC9_ENST00000438773.2_Nonsense_Mutation_p.E972*	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	972					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCTCGGGCTTCCCGCCGCTCT	0.592000													16	49					0.00316338	0.00322838	1	1	0
PLEKHH3	79990	broad.mit.edu	37	17	40823067	40823067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:40823067C>A	ENST00000293349.6	-	9	1796	c.1366G>T	c.(1366-1368)Gag>Tag	p.E456*	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Nonsense_Mutation_p.E456*|PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.E456*			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	456	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGGGCTCGCTCCTGGGCCCCT	0.657000													8	84					0.0381472	0.038405	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944325	55944325	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:55944325G>A	ENST00000312298.1	+	1	232	c.232G>A	c.(232-234)Gca>Aca	p.A78T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATCTGCAATTGCACCCAAAAT	0.438000													15	176					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419974	105419974	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:105419974G>T	ENST00000333244.5	-	7	1933	c.1814C>A	c.(1813-1815)gCc>gAc	p.A605D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	605						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCTTCTGTGGCTTTTTCTCT	0.493000													32	357					4.2108e-06	4.54644e-06	1	1	0
SOWAHB	345079	broad.mit.edu	37	4	77817339	77817339	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:77817339T>A	ENST00000334306.2	-	1	1663	c.1664A>T	c.(1663-1665)aAg>aTg	p.K555M		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	555																	CACAACAGCCTTAACCTCTGC	0.602000													11	29					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178084017	178084017	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:178084017G>A	ENST00000411529.2	+	10	1112	c.1061G>A	c.(1060-1062)aGa>aAa	p.R354K	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R376K|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R376K	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	376	Gly-rich.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TATGGTAGCAGAAGGTTCTAA	0.299000													9	37					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321851	106321851	+	RNA	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:106321851C>T	ENST00000390559.2	-	0	382																											CTTGGACTTGCGGGGGTTGCC	0.657000													16	30					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46596043	46596043	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr21:46596043G>A	ENST00000539173.1	+	4	862	c.427G>A	c.(427-429)Gtt>Att	p.V143I	ADARB1_ENST00000348831.4_Missense_Mutation_p.V143I|ADARB1_ENST00000360697.3_Missense_Mutation_p.V143I|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Missense_Mutation_p.V143I	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	143	DRBM 1.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GAGGTCTTTCGTTCAGTTTCC	0.542000													18	16					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111915886	111915886	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:111915886A>C	ENST00000280346.6	+	9	1881	c.1222A>C	c.(1222-1224)Aca>Cca	p.T408P	DLAT_ENST00000393051.1_Missense_Mutation_p.T303P|DLAT_ENST00000537636.1_Missense_Mutation_p.T179P	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	408					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TGTGCCTCCCACAGGTCCTGG	0.483000													54	77					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36428695	36428695	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr13:36428695G>A	ENST00000255448.4	-	6	1187	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000360631.3_Missense_Mutation_p.R326C|DCLK1_ENST00000379893.1_Missense_Mutation_p.R19C|DCLK1_ENST00000379892.4_Missense_Mutation_p.R326C	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	326	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R326C(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTGCCTGAGCGCGGAGTAGAG	0.473000													14	29					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	645455	645455	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:645455C>T	ENST00000266383.5	+	3	358	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	115						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TCCCCTGGCTCTCAGAGGTGA	0.453000													33	43					0	0	1	0	0
NAGS	162417	broad.mit.edu	37	17	42084858	42084858	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:42084858G>A	ENST00000293404.3	+	5	1382	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	422	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CTACGTCTCCGAGGGGTAAGC	0.697000											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	40					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209968692	209968692	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:209968692C>T	ENST00000367021.3	-	5	623	c.451G>A	c.(451-453)Gat>Aat	p.D151N	IRF6_ENST00000542854.1_Missense_Mutation_p.D56N	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	151					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGCGACTGATCCAGCTCATCT	0.512000										HNSCC(57;0.16)			27	85					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880469	153880469	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chrX:153880469C>T	ENST00000369585.3	-	3	529	c.477G>A	c.(475-477)ttG>ttA	p.L159L	CTAG2_ENST00000247306.4_3'UTR	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	0						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGATCCACATCAACAGGGAAA	0.592000													9	30					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43320687	43320687	+	Splice_Site	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:43320687C>T	ENST00000331495.3	+	17	2549	c.2213_splice	c.e17+1	p.A738_splice	FMNL1_ENST00000328118.3_Splice_Site_p.A738_splice|FMNL1_ENST00000587489.1_Splice_Site_p.A316_splice	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	738	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCCATTGAGGCGTGAGTGTCC	0.597000													21	35					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158924160	158924160	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:158924160G>A	ENST00000367097.3	+	13	4822	c.3465G>A	c.(3463-3465)ctG>ctA	p.L1155L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1155					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCTGATGCTGAGTCAGGGCC	0.582000													27	59					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24700294	24700294	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:24700294C>A	ENST00000374409.1	-	6	723	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.V110F|STPG1_ENST00000003583.8_Missense_Mutation_p.V110F|STPG1_ENST00000337248.4_Missense_Mutation_p.V157F	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		CAGCAAGAGACAGAGGCCTAG	0.458000													64	158					4.45325e-31	4.91507e-31	1	1	0
PLAG1	5324	broad.mit.edu	37	8	57079259	57079259	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:57079259T>C	ENST00000316981.3	-	5	1525	c.1046A>G	c.(1045-1047)gAa>gGa	p.E349G	PLAG1_ENST00000429357.2_Missense_Mutation_p.E349G|PLAG1_ENST00000423799.2_Missense_Mutation_p.E267G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	349	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TAATGGCTGTTCTTTTTCAGG	0.423000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								46	81					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230226	39230226	+	Silent	SNP	C	C	T	rs141262169	by1000genomes	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:39230226C>T	ENST00000340369.3	-	2	939	c.711G>A	c.(709-711)acG>acA	p.T237T	XIRP1_ENST00000396251.1_Silent_p.T237T|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	237							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAGGGGCTCCGTTTGGAAGA	0.617000													31	41					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906086	5906086	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:5906086G>A	ENST00000316987.2	+	1	586	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTGGCCGGGTTGGCCTGTG	0.443000													38	112					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682754	100682754	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:100682754C>T	ENST00000306151.4	+	3	8121	c.8057C>T	c.(8056-8058)aCt>aTt	p.T2686I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2686	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCTCAACTCCTGGTGAA	0.483000													23	704					0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	460237	460237	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:460237A>G	ENST00000308020.5	+	2	409	c.233A>G	c.(232-234)tAt>tGt	p.Y78C		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	78						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACGCTTGGCTATGTGACGCTG	0.552000													5	30					0	0	1	0	0
MSL1	339287	broad.mit.edu	37	17	38285640	38285640	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:38285640C>T	ENST00000398532.3	+	3	1450	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	MSL1_ENST00000578648.1_Missense_Mutation_p.R379C|MSL1_ENST00000577454.1_Missense_Mutation_p.R379C|MSL1_ENST00000579565.1_Missense_Mutation_p.R116C			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	379					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TGTTTGTAAACGTGAATTGAG	0.473000													13	62					0	0	1	0	0
JADE2	23338	broad.mit.edu	37	5	133901872	133901872	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr5:133901872C>T	ENST00000395003.1	+	9	1215	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	PHF15_ENST00000361895.2_Missense_Mutation_p.R346W|PHF15_ENST00000282605.4_Missense_Mutation_p.R346W|PHF15_ENST00000402835.1_Missense_Mutation_p.R346W	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		346					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTGGAAATGCGGACTATATT	0.557000													27	51					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72831849	72831849	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:72831849G>C	ENST00000268489.5	-	9	5404	c.4732C>G	c.(4732-4734)Caa>Gaa	p.Q1578E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q664E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1578					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGATTCTTGAAGGGCTCTC	0.453000													9	72					0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136708300	136708300	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:136708300delG	ENST00000329582.4	+	4	673	c.424delG	c.(424-426)ggfs	p.G142fs	IL20RB_ENST00000309741.5_Frame_Shift_Del_p.G95fs|IL20RB_ENST00000484501.1_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	142						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TACCCGACCTGGGATGGAGAT	0.562													14	66	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													2	4	---	---	---	---					
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1																						cttagtttacagtgaaaacaa	0.522													7	13	---	---	---	---					
C9orf24	84688	broad.mit.edu	37	9	34381458	34381459	+	Translation_Start_Site	INS	-	-	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr9:34381458_34381459insT	ENST00000379133.3	-	0	139_140				C9orf24_ENST00000297623.2_Intron|C9orf24_ENST00000379126.3_De_novo_Start_OutOfFrame|C9orf24_ENST00000379127.1_Intron|C9orf24_ENST00000379124.1_De_novo_Start_OutOfFrame	NM_001252195.1|NM_147168.1	NP_001239124.1|NP_671697.1	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		AGCGGCACACATGCTACCTCAA	0.599													52	31	---	---	---	---					
TAPBPL	55080	broad.mit.edu	37	12	6561460	6561460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:6561460delT	ENST00000266556.7	+	1	211	c.46delT	c.(46-48)ctfs	p.S16fs	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Frame_Shift_Del_p.S16fs	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	16					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CCTGGCTCTATCTGGAGCAGC	0.632													3	4	---	---	---	---					
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr21:15436915delG	ENST00000428809.1	+	0	177																											CCCCTGGGACGGGGGCCTTGG	0.687													2	4	---	---	---	---					
