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
PCDHGA5	56110	broad.mit.edu	37	5	140744997	140744997	+	Missense_Mutation	SNP	C	C	T	rs151160787	by1000genomes	TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:140744997C>T	ENST00000518069.1	+	1	1100	c.1100C>T	c.(1099-1101)gCg>gTg	p.A367V	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTAATCGCGCTGTTTAGC	0.453000													14	31					0	0	0.016723	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103430968	103430968	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:103430968C>A	ENST00000361246.2	-	19	2885	c.2597G>T	c.(2596-2598)cGc>cTc	p.R866L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	866					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGGCTGCGGCGCACCTTCCA	0.542000													3	10					0.000602214	0.000644386	0.014758	1	0
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:7577534C>A	ENST00000420246.2	-	7	879	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(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)		TGAGGATGGGCCTCCGGTTCA	0.572000		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)			45	67					4.25531e-23	5.76429e-23	0.048971	1	0
TENM1	10178	broad.mit.edu	37	X	123514910	123514910	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:123514910C>T	ENST00000422452.2	-	32	7738	c.7675G>A	c.(7675-7677)Gcc>Acc	p.A2559T	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.A2552T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTGAGAATGGCAGCAAGCCGC	0.438000													83	77					0	0	0.048971	0	0
NUP210	23225	broad.mit.edu	37	3	13360754	13360754	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:13360754C>T	ENST00000254508.5	-	38	5537	c.5455G>A	c.(5455-5457)Gct>Act	p.A1819T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1819					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.A1819P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCTGTCCCAGCCAACAGGGCG	0.562000													7	5					0	0	0.029380	0	0
ITIH2	3698	broad.mit.edu	37	10	7786107	7786107	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:7786107T>A	ENST00000358415.4	+	18	2438	c.2272T>A	c.(2272-2274)Tat>Aat	p.Y758N	ITIH2_ENST00000379587.4_Missense_Mutation_p.Y747N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	758					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACTAAGCACCTATTTTGGAAA	0.398000													19	56					0	0	0.055883	0	0
TTN	7273	broad.mit.edu	37	2	179613696	179613696	+	Silent	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:179613696A>T	ENST00000360870.5	-	46	13653	c.13431T>A	c.(13429-13431)ccT>ccA	p.P4477P	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	607							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)			ATGTTCTGGTAGGTCTTTTTT	0.343000													56	152					0	0	0.048971	0	0
OR2T6	254879	broad.mit.edu	37	1	248551473	248551473	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:248551473C>A	ENST00000355728.2	+	1	564	c.564C>A	c.(562-564)gcC>gcA	p.A188A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGGCTGGCCTGTGGGGACA	0.517000													31	30					7.26314e-15	9.31047e-15	0.034045	1	0
ZBTB5	9925	broad.mit.edu	37	9	37442130	37442130	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr9:37442130A>G	ENST00000307750.4	-	2	607	c.419T>C	c.(418-420)aTg>aCg	p.M140T		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GGAGCGCTGCATGCGGGCGCT	0.557000													25	192					0	0	0.021523	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98175299	98175299	+	RNA	SNP	T	T	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:98175299T>A	ENST00000443455.1	-	0	1040							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TTTCTGTGGCTATATTTGAAA	0.343000													12	45					0	0	0.049695	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314286	135314286	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:135314286G>A	ENST00000316077.9	-	8	1050	c.830C>T	c.(829-831)tCg>tTg	p.S277L	MAP7D3_ENST00000370661.1_Missense_Mutation_p.S242L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.S259L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	277						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTTCATTGTCGACATGGGAAA	0.458000													32	164					0	0	0.050027	0	0
SPEF2	79925	broad.mit.edu	37	5	35700805	35700805	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:35700805A>T	ENST00000440995.2	+	16	2334	c.2334A>T	c.(2332-2334)ttA>ttT	p.L778F	SPEF2_ENST00000509059.1_Missense_Mutation_p.L778F|SPEF2_ENST00000356031.3_Missense_Mutation_p.L783F|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	783					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTCATATTATTAGATGTTT	0.348000													53	237					0	0	0.048971	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858337	9858337	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:9858337G>A	ENST00000396573.2	-	14	3373	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022C|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1022					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1022C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAATCCTGGCGTATGGAATCC	0.532000													39	440					0	0	0.027894	0	0
SERPINE1	5054	broad.mit.edu	37	7	100773740	100773740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:100773740G>T	ENST00000223095.4	+	3	467	c.310G>T	c.(310-312)Gag>Tag	p.E104*	SERPINE1_ENST00000445463.2_Nonsense_Mutation_p.E89*	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	104					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCTGTACAAGGAGCTCATGGG	0.592000													97	239					1.31735e-33	1.92072e-33	0.048971	1	0
IL17A	3605	broad.mit.edu	37	6	52053998	52053998	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:52053998C>A	ENST00000340057.1	+	3	421	c.376C>A	c.(376-378)Cct>Act	p.P126T		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	126					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					GCGCAGGGAGCCTCCACACTG	0.592000													39	114					5.73435e-26	8.02389e-26	0.048971	1	0
RYR2	6262	broad.mit.edu	37	1	237957224	237957224	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:237957224G>T	ENST00000366574.2	+	95	14157	c.13840G>T	c.(13840-13842)Ggg>Tgg	p.G4614W	RYR2_ENST00000360064.6_Missense_Mutation_p.G4620W|RYR2_ENST00000542537.1_Missense_Mutation_p.G4598W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4614					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTTGATGGGCTTTATAT	0.338000													34	43					4.65686e-17	6.07141e-17	0.064281	1	0
ZNF710	374655	broad.mit.edu	37	15	90623002	90623002	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:90623002G>A	ENST00000268154.4	+	5	2187	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CAGCAGCGCCGAGGCCAGTGT	0.627000													12	40					0	0	0.028581	0	0
OR2T33	391195	broad.mit.edu	37	1	248436962	248436962	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:248436962C>A	ENST00000318021.2	-	1	176	c.155G>T	c.(154-156)cGg>cTg	p.R52L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGTGTGGAGCCGGTGGTCCCA	0.527000													6	282					3.1745e-13	3.97593e-13	0.037714	1	0
ATRNL1	26033	broad.mit.edu	37	10	117040923	117040923	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:117040923C>A	ENST00000355044.3	+	14	2285	c.2159C>A	c.(2158-2160)aCc>aAc	p.T720N		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	720	PSI 3.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACAAACTTACCAGCTGTAAA	0.358000													47	137					1.83081e-24	2.51571e-24	0.048971	1	0
MAP3K15	389840	broad.mit.edu	37	X	19389463	19389463	+	Splice_Site	SNP	G	G	T	rs140041575	byFrequency	TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:19389463G>T	ENST00000338883.4	-	23	3293	c.3294_splice	c.e23+1	p.A1098_splice	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Splice_Site_p.A930_splice|MAP3K15_ENST00000359173.3_Splice_Site_p.A533_splice	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1098							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GAGCACTTACGGCATCCTGAA	0.507000													46	22					3.10996e-30	4.44946e-30	0.048971	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12835253	12835253	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:12835253G>T	ENST00000357726.4	+	1	270	c.243G>T	c.(241-243)gtG>gtT	p.V81V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	81										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGAGCTGTGCTGGAGGGGC	0.587000													26	103					5.60225e-13	6.92576e-13	0.041601	1	0
CCDC151	115948	broad.mit.edu	37	19	11534596	11534596	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:11534596C>G	ENST00000356392.4	-	8	1153	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	CCDC151_ENST00000586836.1_Missense_Mutation_p.E165Q|CCDC151_ENST00000545100.1_Missense_Mutation_p.E302Q|CCDC151_ENST00000591179.1_Missense_Mutation_p.E296Q	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	356										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						AAGATCACCTCCATCTGGTAC	0.662000													7	38					0	0	0.038147	0	0
FOLH1	2346	broad.mit.edu	37	11	49221942	49221942	+	Silent	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:49221942A>T	ENST00000340334.7	-	4	599	c.231T>A	c.(229-231)ctT>ctA	p.L77L	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000256999.2_Silent_p.L92L|FOLH1_ENST00000356696.3_Silent_p.L92L|FOLH1_ENST00000533034.1_Silent_p.L77L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	92					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTTGCTTTGCAAGCTGAAAGT	0.363000													6	53					0	0	0.021553	0	0
RBM44	375316	broad.mit.edu	37	2	238726601	238726601	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:238726601G>A	ENST00000316997.4	+	3	1174	c.1042G>A	c.(1042-1044)Gtt>Att	p.V348I	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.V348I	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	347							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAATAAAATTGTTGAGAACAA	0.308000													24	57					0	0	0.016522	0	0
ZNF846	162993	broad.mit.edu	37	19	9868574	9868574	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:9868574G>T	ENST00000397902.2	-	6	1592	c.1179C>A	c.(1177-1179)ccC>ccA	p.P393P	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TACATTCATAGGGCTTTTCTC	0.388000													4	104					3.09899e-07	3.55499e-07	0.047766	1	0
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618431	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:89618431C>T	ENST00000323061.5	-	1	955	c.475G>A	c.(475-477)Gct>Act	p.A159T	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	159	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcc	0.622000													10	42					0	0	0.045705	0	0
MT-CYB	4519	broad.mit.edu	37	MT	14886	14886	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrM:14886C>A	ENST00000361789.2	+	1	140	c.140C>A	c.(139-141)aCa>aAa	p.47_47insK						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CCAAATCACCACAGGACTATT	0.507000													3	15					0.00909568	0.00939068	0.009096	1	0
ANO3	63982	broad.mit.edu	37	11	26664849	26664849	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:26664849G>A	ENST00000256737.3	+	23	3248	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	ANO3_ENST00000525139.1_Missense_Mutation_p.R783Q|ANO3_ENST00000537978.1_Missense_Mutation_p.R783Q|ANO3_ENST00000531568.1_Missense_Mutation_p.R653Q	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	799						chloride channel complex	chloride channel activity	p.R799Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACTCAATGGCGGAGGCCTTTG	0.433000													24	135					0	0	0.034045	0	0
CREBBP	1387	broad.mit.edu	37	16	3778778	3778778	+	Silent	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:3778778G>C	ENST00000262367.5	-	31	7079	c.6270C>G	c.(6268-6270)ctC>ctG	p.L2090L	CREBBP_ENST00000382070.3_Silent_p.L2052L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2090					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGTTTGATTTGAGAATGTTCA	0.607000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						27	50					0	0	0.048971	0	0
PTENP1	11191	broad.mit.edu	37	9	33676304	33676304	+	RNA	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr9:33676304C>A	ENST00000532280.1	-	0	1193					NR_023917.1																						ACATGATTGTCATCTTCACTT	0.383000													7	187					0.00448238	0.00469115	0.047766	1	0
SYCP2L	221711	broad.mit.edu	37	6	10956459	10956459	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:10956459G>T	ENST00000283141.6	+	25	2443	c.2147G>T	c.(2146-2148)cGg>cTg	p.R716L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	716						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACTAAAAAACGGAAAAGAAAA	0.388000													18	55					8.34094e-07	9.51116e-07	0.049695	1	0
AP1B1	162	broad.mit.edu	37	22	29750760	29750760	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr22:29750760C>T	ENST00000357586.2	-	7	1003	c.817G>A	c.(817-819)Gac>Aac	p.D273N	AP1B1_ENST00000405198.1_Missense_Mutation_p.D273N|AP1B1_ENST00000356015.2_Missense_Mutation_p.D273N|AP1B1_ENST00000317368.7_Missense_Mutation_p.D273N|AP1B1_ENST00000415447.1_Missense_Mutation_p.D273N|AP1B1_ENST00000402502.1_Missense_Mutation_p.D273N|AP1B1_ENST00000432560.2_Missense_Mutation_p.D273N	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	273					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TAGTCCAAGTCCTTAGACAAC	0.582000													12	60					0	0	0.010729	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986619	11986619	+	RNA	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:11986619G>T	ENST00000434078.2	+	0	608					NR_027425.1																						CTCCCTGGGAGCAAGCTGTCT	0.562000													11	57					7.07596e-05	7.7009e-05	0.038395	1	0
DOCK4	9732	broad.mit.edu	37	7	111407090	111407090	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:111407090G>A	ENST00000428084.1	-	38	4185	c.3913C>T	c.(3913-3915)Cgg>Tgg	p.R1305W	DOCK4_ENST00000437633.1_Missense_Mutation_p.R1296W|DOCK4_ENST00000494651.2_Missense_Mutation_p.R179W			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1296	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CACCTTACCCGCATCTTGCTC	0.443000													5	255					0	0	0.014758	0	0
SPCS1	28972	broad.mit.edu	37	3	52741778	52741778	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:52741778G>C	ENST00000233025.7	+	4	870	c.460G>C	c.(460-462)Gac>Cac	p.D154H	SPCS1_ENST00000423431.1_Missense_Mutation_p.D65H|SPCS1_ENST00000602728.1_Missense_Mutation_p.D87H	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	154					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		AAGCACAGACGACAAGAAACC	0.433000													14	64					0	0	0.024245	0	0
KCNU1	157855	broad.mit.edu	37	8	36671860	36671860	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:36671860C>T	ENST00000399881.3	+	8	905	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	290						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCCTTAGGACGGACCTTCAT	0.353000													4	45					0	0	0.029380	0	0
C1orf110	339512	broad.mit.edu	37	1	162829265	162829265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:162829265G>A	ENST00000367912.1	-	2	346	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	C1orf110_ENST00000367911.2_Nonsense_Mutation_p.Q54*|C1orf110_ENST00000367910.1_Nonsense_Mutation_p.Q58*			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	58										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGCAACCTCTGCAGTTCTTTT	0.542000													27	28					0	0	0.030593	0	0
DNAH3	55567	broad.mit.edu	37	16	21045299	21045299	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:21045299C>A	ENST00000261383.3	-	36	5193	c.5194G>T	c.(5194-5196)Gca>Tca	p.A1732S	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1732S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1732	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTACCTGCGTGTAAATCG	0.537000													10	26					3.86212e-05	4.26396e-05	0.008291	1	0
ACSF3	197322	broad.mit.edu	37	16	89187217	89187217	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:89187217G>C	ENST00000317447.4	+	7	1512	c.1135G>C	c.(1135-1137)Ggg>Cgg	p.G379R	ACSF3_ENST00000406948.3_Missense_Mutation_p.G379R|ACSF3_ENST00000378345.4_Missense_Mutation_p.G114R	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	379					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		AGGTTCCGTGGGGACCCCACT	0.602000													14	86					0	0	0.033300	0	0
CCDC170	80129	broad.mit.edu	37	6	151907107	151907107	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:151907107G>T	ENST00000367290.5	+	7	1265	c.1176G>T	c.(1174-1176)caG>caT	p.Q392H	CCDC170_ENST00000239374.7_Missense_Mutation_p.Q392H			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	392																	AAGCTCTCCAGAGGGCCCAGA	0.493000													15	39					4.93089e-13	6.15556e-13	0.020292	1	0
NADK	65220	broad.mit.edu	37	1	1685608	1685608	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:1685608G>A	ENST00000344463.4	-	12	1639	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	NADK_ENST00000378625.1_Missense_Mutation_p.A473V|NADK_ENST00000341991.3_Missense_Mutation_p.A328V|NADK_ENST00000341426.5_Missense_Mutation_p.A328V|NADK_ENST00000342348.5_Missense_Mutation_p.A296V			O95544	NADK_HUMAN	NAD kinase	328					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCGCGGCCGCATACGCCGT	0.706000													5	33					0	0	0.038147	0	0
RNF175	285533	broad.mit.edu	37	4	154649432	154649432	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:154649432C>G	ENST00000347063.4	-	4	700	c.328G>C	c.(328-330)Ggg>Cgg	p.G110R	RNF175_ENST00000274068.4_Intron|RNF175_ENST00000506505.1_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	110						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GAGAACATCCCCCACATAGAC	0.463000													24	147					0	0	0.018920	0	0
APC	324	broad.mit.edu	37	5	112174894	112174894	+	Silent	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:112174894A>G	ENST00000457016.1	+	16	3983	c.3603A>G	c.(3601-3603)tcA>tcG	p.S1201S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S1201S|APC_ENST00000257430.4_Silent_p.S1201S			P25054	APC_HUMAN	adenomatous polyposis coli	1201	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAAAGAGTTCATCTGGACAAA	0.388000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			74	164					0	0	0.048971	0	0
IQCF3	401067	broad.mit.edu	37	3	51864449	51864449	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:51864449A>G	ENST00000456080.1	+	8	1262	c.97A>G	c.(97-99)Agg>Ggg	p.R33G	IQCF3_ENST00000446775.1_Missense_Mutation_p.R33G|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Missense_Mutation_p.R33G|IQCF3_ENST00000437810.2_Missense_Mutation_p.R33G|IQCF3_ENST00000462079.1_3'UTR			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	33										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCACAGAAAAAGGGTGAAGGC	0.557000													3	117					0	0	0.004672	0	0
FABP12	646486	broad.mit.edu	37	8	82441718	82441718	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:82441718C>A	ENST00000360464.4	-	2	263	c.201G>T	c.(199-201)ctG>ctT	p.L67L	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	67							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						ACTCTTCTCCCAGCTTAAAGG	0.413000													55	255					2.69953e-25	3.7499e-25	0.048971	1	0
HIP1	3092	broad.mit.edu	37	7	75186030	75186030	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:75186030A>G	ENST00000336926.6	-	17	1693	c.1667T>C	c.(1666-1668)cTg>cCg	p.L556P	HIP1_ENST00000434438.2_Missense_Mutation_p.L556P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	556					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGAAGTTTCCAGGCTGCCTTG	0.478000			T	PDGFRB	CMML								13	62					0	0	0.020292	0	0
MTUS1	57509	broad.mit.edu	37	8	17612582	17612582	+	Silent	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:17612582T>C	ENST00000381869.3	-	2	1208	c.735A>G	c.(733-735)gcA>gcG	p.A245A	MTUS1_ENST00000262102.6_Silent_p.A245A|MTUS1_ENST00000381862.3_Silent_p.A245A|MTUS1_ENST00000519263.1_Silent_p.A245A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	245						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATCAGAAAATGCTGTGTAAG	0.403000													4	150					0	0	0.009096	0	0
ABHD11	83451	broad.mit.edu	37	7	73150996	73150996	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:73150996G>T	ENST00000222800.3	-	6	910	c.841C>A	c.(841-843)Cgg>Agg	p.R281R	ABHD11_ENST00000395147.4_Silent_p.R224R|ABHD11_ENST00000437775.2_Silent_p.R274R|ABHD11_ENST00000458339.1_3'UTR	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	281							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGGAAGAGCCGCATAATCTCA	0.602000													5	50					8.12818e-05	8.77109e-05	0.029380	1	0
COL14A1	7373	broad.mit.edu	37	8	121220565	121220565	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:121220565C>A	ENST00000297848.3	+	11	1556	c.1286C>A	c.(1285-1287)aCt>aAt	p.T429N	COL14A1_ENST00000537875.1_Missense_Mutation_p.T429N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T334N|COL14A1_ENST00000309791.4_Missense_Mutation_p.T429N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	429	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TATGCCCACACTGCTAGTGAA	0.408000													26	93					3.99451e-17	5.22569e-17	0.041601	1	0
CDC5L	988	broad.mit.edu	37	6	44387332	44387332	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:44387332C>T	ENST00000371477.3	+	9	1538	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	413	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTACTCCATTCAGGTATTGTA	0.368000													12	299					0	0	0.016723	0	0
EPX	8288	broad.mit.edu	37	17	56277029	56277029	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:56277029C>T	ENST00000225371.5	+	9	1521	c.1411C>T	c.(1411-1413)Cgc>Tgc	p.R471C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	471					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCTGGCCTTCCGCTTTGGCCA	0.617000													13	28					0	0	0.028581	0	0
IRX3	79191	broad.mit.edu	37	16	54318157	54318157	+	Splice_Site	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:54318157C>A	ENST00000329734.3	-	3	2164		c.e3+1			NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3						multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GGGTTTCTTACCGCCTGGGCA	0.617000													11	20					6.40141e-05	6.98668e-05	0.010729	1	0
TTN	7273	broad.mit.edu	37	2	179628998	179628998	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:179628998C>T	ENST00000589042.1	-	43	10244	c.10020G>A	c.(10018-10020)atG>atA	p.M3340I	TTN_ENST00000460472.2_Missense_Mutation_p.M3294I|TTN_ENST00000360870.5_Missense_Mutation_p.M3340I|TTN_ENST00000359218.5_Missense_Mutation_p.M3294I|TTN_ENST00000342992.6_Missense_Mutation_p.M3340I|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M3294I|TTN_ENST00000591111.1_Missense_Mutation_p.M3340I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3063							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)			GATAAACAGGCATTTCCTGAT	0.478000													35	78					0	0	0.050027	0	0
MYO18B	84700	broad.mit.edu	37	22	26193973	26193973	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr22:26193973G>A	ENST00000335473.7	+	12	2680	c.2430G>A	c.(2428-2430)atG>atA	p.M810I	MYO18B_ENST00000407587.2_Missense_Mutation_p.M810I|MYO18B_ENST00000536101.1_Missense_Mutation_p.M810I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	810	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGGTGCCATGGAGATGCTCG	0.622000													37	93					0	0	0.023175	0	0
GPR133	283383	broad.mit.edu	37	12	131488757	131488757	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:131488757A>T	ENST00000261654.5	+	11	1730	c.1171A>T	c.(1171-1173)Aag>Tag	p.K391*	GPR133_ENST00000376682.4_Nonsense_Mutation_p.K77*|GPR133_ENST00000535015.1_Nonsense_Mutation_p.K423*	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	391					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AATCCTGCCCAAGACCGTGAA	0.607000													3	18					0	0	0.004672	0	0
CHD2	1106	broad.mit.edu	37	15	93510728	93510728	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:93510728A>C	ENST00000394196.4	+	17	3242	c.2174A>C	c.(2173-2175)cAg>cCg	p.Q725P	CHD2_ENST00000557381.1_Missense_Mutation_p.Q725P	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	725					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCAGCCCTTCAGAAACAGTAT	0.413000													37	114					0	0	0.030466	0	0
TRDN	10345	broad.mit.edu	37	6	123542652	123542652	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:123542652A>G	ENST00000334268.4	-	39	2323	c.2006T>C	c.(2005-2007)gTg>gCg	p.V669A	TRDN_ENST00000398178.3_Missense_Mutation_p.V677A			Q13061	TRDN_HUMAN	triadin	677					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TGTGGGAGACACATCTTCAGT	0.264000													7	20					0	0	0.047766	0	0
ST18	9705	broad.mit.edu	37	8	53030991	53030991	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:53030991A>T	ENST00000276480.7	-	24	3449	c.2766T>A	c.(2764-2766)agT>agA	p.S922R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	922						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTCTTCATCACTCTCTATTC	0.308000													21	104					0	0	0.049695	0	0
PREX2	80243	broad.mit.edu	37	8	68989642	68989642	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:68989642G>A	ENST00000288368.4	+	15	1857	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	527	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAGATTGCCGCACCAGAGAA	0.438000													6	328					0	0	0.021553	0	0
FIG4	9896	broad.mit.edu	37	6	110146373	110146373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:110146373C>T	ENST00000230124.3	+	23	2753	c.2629C>T	c.(2629-2631)Caa>Taa	p.Q877*	FIG4_ENST00000441478.2_Nonsense_Mutation_p.Q571*	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	877					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AGAGATCTTCCAAGCCCACAT	0.463000													61	218					0	0	0.048971	0	0
CPN2	1370	broad.mit.edu	37	3	194062878	194062878	+	Missense_Mutation	SNP	G	G	T	rs143748840		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:194062878G>T	ENST00000323830.3	-	2	643	c.554C>A	c.(553-555)cCg>cAg	p.P185Q	CPN2_ENST00000429275.1_Missense_Mutation_p.P185Q	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	185					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAGCTCCTCCGGGAGCTGGGC	0.637000													12	40					0.00136819	0.00144778	0.013537	1	0
HPSE	10855	broad.mit.edu	37	4	84234281	84234281	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:84234281C>A	ENST00000405413.2	-	5	795	c.659G>T	c.(658-660)tGg>tTg	p.W220L	HPSE_ENST00000311412.5_Missense_Mutation_p.W220L|HPSE_ENST00000512196.1_Missense_Mutation_p.W220L|HPSE_ENST00000513463.1_Intron	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	220					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GCCTAGTTCCCAAGAAATGTT	0.388000													27	106					5.77227e-19	7.65628e-19	0.037714	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604269	140604269	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:140604269A>C	ENST00000239449.4	+	1	1192	c.1192A>C	c.(1192-1194)Aag>Cag	p.K398Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.K245Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		398	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGACCTTCAAGAACTTTTT	0.453000													27	89					0	0	0.030593	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647499	33647499	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:33647499C>A	ENST00000558425.1	-	2	100	c.101G>T	c.(100-102)gGg>gTg	p.G34V																								CAGGGACCCCCCAGGCTGTAC	0.567000													31	156					7.53189e-24	1.03125e-23	0.030466	1	0
TYRO3	7301	broad.mit.edu	37	15	41857295	41857295	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:41857295C>T	ENST00000263798.3	+	6	963	c.739C>T	c.(739-741)Cca>Tca	p.P247S	TYRO3_ENST00000559066.1_Missense_Mutation_p.P202S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	247	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCCTGGATGCCAGGTGCTGA	0.602000													3	31					0	0	0.009096	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8429470	8429470	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:8429470C>G	ENST00000301455.2	+	1	436	c.265C>G	c.(265-267)Ctc>Gtc	p.L89V	ANGPTL4_ENST00000541807.1_Intron|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.L89V	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	89					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GTCCACCGACCTCCCGTTAGC	0.711000													4	5					0	0	0.009096	0	0
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	T	rs71828885		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:79792085G>T	ENST00000335016.5	+	11	1546	c.1380G>T	c.(1378-1380)caG>caT	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577000													12	33					2.4624e-09	2.93033e-09	0.049695	1	0
GPNMB	10457	broad.mit.edu	37	7	23292931	23292931	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:23292931C>T	ENST00000258733.4	+	2	371	c.76C>T	c.(76-78)Cat>Tat	p.H26Y	GPNMB_ENST00000381990.2_Missense_Mutation_p.H26Y|GPNMB_ENST00000409458.3_Missense_Mutation_p.H26Y|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000453162.2_Missense_Mutation_p.H26Y			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	26					negative regulation of cell proliferation	melanosome		p.H26N(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TACAGGATTTCATGATGTGCT	0.348000													7	171					0	0	0.029380	0	0
ZNF292	23036	broad.mit.edu	37	6	87969715	87969715	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:87969715C>T	ENST00000369577.3	+	8	6411	c.6368C>T	c.(6367-6369)gCt>gTt	p.A2123V	ZNF292_ENST00000339907.4_Missense_Mutation_p.A2118V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGATGCTTTGCTGCCTTTACG	0.438000													6	135					0	0	0.021553	0	0
GRIA3	2892	broad.mit.edu	37	X	122528862	122528862	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:122528862C>A	ENST00000264357.5	+	6	1086	c.794C>A	c.(793-795)gCc>gAc	p.A265D	GRIA3_ENST00000371251.1_Missense_Mutation_p.A265D|GRIA3_ENST00000371256.5_Missense_Mutation_p.A265D|GRIA3_ENST00000542149.1_Missense_Mutation_p.A265D|GRIA3_ENST00000541091.1_Missense_Mutation_p.A249D	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	265					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CATGGGGGAGCCAACATTACA	0.438000													63	89					1.02487e-32	1.47736e-32	0.048971	1	0
CACNA1G	8913	broad.mit.edu	37	17	48646649	48646649	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:48646649G>A	ENST00000352832.5	+	3	850	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	CACNA1G_ENST00000510366.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.V160I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000359106.5_Missense_Mutation_p.V160I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.V160I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.V160I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.V160I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.V160I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.V160I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.V160I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.V160I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.V160I	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	160					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTTTTCATCGTCATCGCAGG	0.577000													8	58					0	0	0.038147	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143973998	143973998	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:143973998G>T	ENST00000409869.1	+	5	457	c.280G>T	c.(280-282)Gga>Tga	p.G94*	ARHGAP15_ENST00000295095.6_Nonsense_Mutation_p.G94*			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	94	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AATTGCAGATGGAGGAAAGAA	0.323000													50	168					1.78197e-24	2.45744e-24	0.048971	1	0
PTPRH	5794	broad.mit.edu	37	19	55718315	55718315	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:55718315G>T	ENST00000376350.3	-	3	116	c.94C>A	c.(94-96)Cca>Aca	p.P32T	PTPRH_ENST00000263434.5_Missense_Mutation_p.P32T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	32	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCCTCCCTGGGTTGGGGGCT	0.567000													25	23					4.40665e-25	6.09905e-25	0.041601	1	0
TRAPPC1	58485	broad.mit.edu	37	17	7833933	7833933	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:7833933C>A	ENST00000573621.1	-	1	7	c.8G>T	c.(7-9)gGg>gTg	p.G3V	TRAPPC1_ENST00000540486.1_Silent_p.R143R|TRAPPC1_ENST00000303731.4_Silent_p.R143R																							TTCAGCCAGCCCGGGCGGAGA	0.597000													16	18					3.52763e-06	3.97509e-06	0.033300	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140762857	140762857	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:140762857C>T	ENST00000518325.1	+	1	391	c.391C>T	c.(391-393)Cca>Tca	p.P131S	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAACGTTCCAAGATTCTT	0.413000													8	45					0	0	0.038147	0	0
MROH5	389690	broad.mit.edu	37	8	142517281	142517281	+	RNA	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:142517281C>A	ENST00000430863.1	-	0	49					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CACAGGAGCTCACCACTAACT	0.647000													3	7					0.00909568	0.00939068	0.009096	1	0
RIMS1	22999	broad.mit.edu	37	6	73110293	73110293	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:73110293G>A	ENST00000264839.7	+	30	4503	c.4503G>A	c.(4501-4503)gtG>gtA	p.V1501V	RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000538414.1_Silent_p.V458V|RIMS1_ENST00000523963.1_Silent_p.V777V|RIMS1_ENST00000521978.1_Silent_p.V1652V|RIMS1_ENST00000414192.2_Silent_p.V179V|RIMS1_ENST00000425662.2_Silent_p.V720V|RIMS1_ENST00000518273.1_Silent_p.V1331V|RIMS1_ENST00000401910.3_Silent_p.V972V|RIMS1_ENST00000348717.5_Silent_p.V1435V|RIMS1_ENST00000520567.1_Silent_p.V1302V|RIMS1_ENST00000517960.1_Silent_p.V1435V|RIMS1_ENST00000517827.1_Silent_p.V786V|RIMS1_ENST00000522291.1_Silent_p.V1251V|RIMS1_ENST00000491071.2_Silent_p.V1441V			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1652					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAGCATGGTGATCGGATGGT	0.532000													69	223					0	0	0.048971	0	0
SCN3A	6328	broad.mit.edu	37	2	165986673	165986673	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:165986673C>T	ENST00000360093.3	-	17	3190	c.2699G>A	c.(2698-2700)gGc>gAc	p.G900D	SCN3A_ENST00000409101.3_Missense_Mutation_p.G851D|SCN3A_ENST00000283254.7_Missense_Mutation_p.G900D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	900						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAGCTGCATGCCGACCACAGC	0.463000													6	318					0	0	0.029380	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3669805	3669805	+	Silent	SNP	C	C	A	rs143796184	byFrequency	TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr20:3669805C>A	ENST00000344754.4	-	20	5066	c.5067G>T	c.(5065-5067)acG>acT	p.T1689T	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1689					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGATACCTGCGTGGTCTCTT	0.532000													19	89					7.41877e-09	8.71991e-09	0.062417	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057642	46057642	+	Missense_Mutation	SNP	T	T	C	rs68027322		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr21:46057642T>C	ENST00000380095.1	+	1	370	c.308T>C	c.(307-309)gTc>gCc	p.V103A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	103	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						tgtgtgcccgtctgctgcgtg	0.622000													32	123					0	0	0.059317	0	0
PTPN21	11099	broad.mit.edu	37	14	88945912	88945912	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:88945912G>A	ENST00000556564.1	-	13	2147	c.1863C>T	c.(1861-1863)agC>agT	p.S621S	PTPN21_ENST00000328736.3_Silent_p.S621S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	621						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGAGGGGCTCGCTGACCTCCT	0.706000													11	15					0	0	0.008291	0	0
SVEP1	79987	broad.mit.edu	37	9	113149665	113149665	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr9:113149665G>T	ENST00000401783.2	-	42	10296	c.9960C>A	c.(9958-9960)aaC>aaA	p.N3320K	SVEP1_ENST00000374469.1_Missense_Mutation_p.N3297K|SVEP1_ENST00000297826.5_Missense_Mutation_p.N1246K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3320	Sushi 32.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATATACCACGTTGGGTCCAG	0.468000													12	59					2.31682e-05	2.56529e-05	0.024245	1	0
SPOCD1	90853	broad.mit.edu	37	1	32280141	32280141	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:32280141C>A	ENST00000360482.2	-	2	923	c.794G>T	c.(793-795)gGg>gTg	p.G265V	SPOCD1_ENST00000373648.2_Missense_Mutation_p.G265V|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G265V|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	265					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGGCCCAGACCCAGTGTCTTT	0.617000													11	42					0.00136819	0.00144778	0.013537	1	0
RASGRP4	115727	broad.mit.edu	37	19	38903629	38903629	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:38903629G>T	ENST00000454404.2	-	12	1588	c.1375C>A	c.(1375-1377)Cga>Aga	p.R459R	RASGRP4_ENST00000433821.2_Silent_p.R401R|RASGRP4_ENST00000586305.1_Silent_p.R479R|RASGRP4_ENST00000587753.1_Silent_p.R424R|RASGRP4_ENST00000293062.9_Silent_p.R396R|RASGRP4_ENST00000587738.1_Silent_p.R493R|RASGRP4_ENST00000426920.2_Silent_p.R304R	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	493					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCGAGAGTCGCTCAAAGTCC	0.552000													11	61					7.03913e-09	8.29922e-09	0.013537	1	0
BRPF3	27154	broad.mit.edu	37	6	36168792	36168792	+	Silent	SNP	C	C	T	rs142038497		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:36168792C>T	ENST00000357641.6	+	2	946	c.693C>T	c.(691-693)ttC>ttT	p.F231F	BRPF3_ENST00000543502.1_Silent_p.F231F|BRPF3_ENST00000534694.1_Silent_p.F231F|BRPF3_ENST00000534400.1_Silent_p.F231F|BRPF3_ENST00000443324.2_Silent_p.F231F|BRPF3_ENST00000339717.7_Silent_p.F231F	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	231					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TTATTCTCTTCTGTGACATCT	0.547000													18	111					0	0	0.038395	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818619	159818619	+	RNA	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:159818619C>A	ENST00000497452.1	-	0	517																											GGGGGACGGGCACCGGGGCCC	0.706000													5	8					0.000602214	0.000644386	0.014758	1	0
TRIM44	54765	broad.mit.edu	37	11	35747573	35747573	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:35747573C>G	ENST00000299413.5	+	3	1156	c.849C>G	c.(847-849)atC>atG	p.I283M	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	283						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TAGTGGACATCCAAGAGGCAA	0.463000													13	112					0	0	0.020292	0	0
MIR522	574495	broad.mit.edu	37	19	54254544	54254544	+	RNA	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:54254544C>G	ENST00000385071.1	+	0	80					NR_030217.1																						GAGTGTTACGCTTTGAGAAAA	0.413000													6	67					0	0	0.029380	0	0
ZNF16	7564	broad.mit.edu	37	8	146156799	146156799	+	Silent	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:146156799T>C	ENST00000276816.4	-	4	1560	c.1374A>G	c.(1372-1374)gaA>gaG	p.E458E	ZNF16_ENST00000394909.2_Silent_p.E458E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CGTGAGGCTTTTCTCCAGTGT	0.483000													11	246					0	0	0.043863	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260839	30260839	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:30260839C>A	ENST00000378982.2	+	1	783	c.587C>A	c.(586-588)cCa>cAa	p.P196Q		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	196	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGGACCCTTCCAAGGAATGGG	0.532000													33	19					1.74807e-11	2.12663e-11	0.045705	1	0
SYTL5	94122	broad.mit.edu	37	X	37985860	37985860	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:37985860C>A	ENST00000357972.5	+	17	2616	c.2070C>A	c.(2068-2070)aaC>aaA	p.N690K	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.N690K|SYTL5_ENST00000456733.2_Missense_Mutation_p.N712K			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	690					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ATGGGAAGAACGTGGATTGGA	0.498000													38	33					1.76056e-25	2.4545e-25	0.042209	1	0
OR1I1	126370	broad.mit.edu	37	19	15198125	15198125	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:15198125G>A	ENST00000209540.2	+	1	335	c.249G>A	c.(247-249)gcG>gcA	p.A83A		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						AGATGCTAGCGAACATCCAGG	0.552000													3	62					0	0	0.009096	0	0
RPL24	6152	broad.mit.edu	37	3	101404672	101404672	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:101404672T>G	ENST00000469605.1	-	3	200	c.182A>C	c.(181-183)aAg>aCg	p.K61T	RPL24_ENST00000394077.3_Missense_Mutation_p.K61T|RPL24_ENST00000495401.1_Missense_Mutation_p.K61T			P83731	RL24_HUMAN	ribosomal protein L24	61					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|lung(2)|urinary_tract(1)	4						CGACTGTCCCTTTTTGTGCTT	0.438000													7	25					0	0	0.038147	0	0
PRSS1	5644	broad.mit.edu	37	7	142459838	142459838	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:142459838G>A	ENST00000486171.1	+	4	473	c.456G>A	c.(454-456)aaG>aaA	p.K152K	PRSS1_ENST00000311737.7_Silent_p.K138K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	138	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTGGCACGAAGTGCCTCATCT	0.557000													38	181					0	0	0.048971	0	0
GFPT2	9945	broad.mit.edu	37	5	179762830	179762830	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:179762830T>A	ENST00000253778.8	-	4	507	c.338A>T	c.(337-339)aAc>aTc	p.N113I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	113	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCACATACCGTTGCCTTTGTC	0.632000													8	17					0	0	0.058154	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400004	13400004	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:13400004T>C	ENST00000284110.1	-	2	1528	c.731A>G	c.(730-732)gAc>gGc	p.D244G	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.D42G	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	244						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTCACCGGGTCCCGCACCAC	0.632000													8	181					0	0	0.010729	0	0
FAT3	120114	broad.mit.edu	37	11	92087588	92087588	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:92087588G>T	ENST00000298047.6	+	1	2327	c.2310G>T	c.(2308-2310)acG>acT	p.T770T	FAT3_ENST00000525166.1_Silent_p.T620T|FAT3_ENST00000409404.2_Silent_p.T770T|FAT3_ENST00000541502.1_Silent_p.T770T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	770	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGAAATACGGATAGTTGCT	0.408000										TCGA Ovarian(4;0.039)			28	217					4.22769e-11	5.11069e-11	0.030593	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	116					0	0	0.010729	0	0
SI	6476	broad.mit.edu	37	3	164735649	164735649	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:164735649T>G	ENST00000264382.3	-	30	3595	c.3533A>C	c.(3532-3534)cAg>cCg	p.Q1178P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1178	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGGAGTTGGCTGGAATGTAAC	0.353000										HNSCC(35;0.089)			14	111					0	0	0.024245	0	0
CSMD3	114788	broad.mit.edu	37	8	114186083	114186083	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:114186083T>A	ENST00000297405.5	-	4	821	c.577A>T	c.(577-579)Aga>Tga	p.R193*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R193*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R193*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R153*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	193	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACGTCGAATCTTGTGCCATAT	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			62	198					0	0	0.048971	0	0
POTEF	728378	broad.mit.edu	37	2	130832309	130832309	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:130832309G>T	ENST00000357462.5	-	15	2829	c.2736C>A	c.(2734-2736)atC>atA	p.I912I	POTEF_ENST00000409914.2_Silent_p.I912I			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	912	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCTTCTCTTTGATGTCACGCA	0.592000													9	63					0.0242445	0.0248963	0.024245	1	0
OR6C4	341418	broad.mit.edu	37	12	55945511	55945511	+	Silent	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:55945511T>C	ENST00000394256.2	+	1	529	c.501T>C	c.(499-501)tgT>tgC	p.C167C	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TAGATTTCTGTGTCTCCAACA	0.488000													118	240					0	0	0.048971	0	0
CHD7	55636	broad.mit.edu	37	8	61774815	61774815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:61774815C>T	ENST00000423902.2	+	36	8370	c.7891C>T	c.(7891-7893)Cga>Tga	p.R2631*	CHD7_ENST00000524602.1_Nonsense_Mutation_p.R582*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2631					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACATAGATGTCGAAACCCTAA	0.363000													7	43					0	0	0.038147	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431803	89431803	+	RNA	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:89431803G>T	ENST00000532352.1	+	0	2085							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAATTTGTGTGGTATGTCACT	0.323000													16	31					2.31682e-05	2.56529e-05	0.024245	1	0
BCHE	590	broad.mit.edu	37	3	165547813	165547813	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:165547813G>T	ENST00000264381.3	-	2	1175	c.1009C>A	c.(1009-1011)Ctt>Att	p.L337I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	337					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTGTCCAAGTTCAAGTAAT	0.408000													16	62					1.99824e-07	2.30612e-07	0.033300	1	0
MSH2	4436	broad.mit.edu	37	2	47637443	47637443	+	Nonsense_Mutation	SNP	C	C	T	rs63751326		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:47637443C>T	ENST00000406134.1	+	3	639	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	MSH2_ENST00000233146.2_Nonsense_Mutation_p.Q193*|MSH2_ENST00000543555.1_Nonsense_Mutation_p.Q127*			P43246	MSH2_HUMAN	mutS homolog 2	193					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCTCCTCATCCAGATTGGACC	0.458000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				62	187					0	0	0.048971	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494413	106494413	+	RNA	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:106494413C>A	ENST00000390597.2	-	0	98																											AGCGTAGGACCAGACTCCTTC	0.532000													13	43					1.3612e-06	1.54756e-06	0.024245	1	0
CENPF	1063	broad.mit.edu	37	1	214816606	214816606	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:214816606G>T	ENST00000366955.3	+	12	5093	c.4925G>T	c.(4924-4926)cGa>cTa	p.R1642L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1738					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGTAGCACGACTCCAGCTA	0.478000													20	136					1.00905e-13	1.27213e-13	0.049695	1	0
DSG4	147409	broad.mit.edu	37	18	28991303	28991303	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr18:28991303C>T	ENST00000359747.4	+	14	2333	c.2304C>T	c.(2302-2304)gcC>gcT	p.A768A	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.A749A	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	749					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ccgcaggggccgcaggagcct	0.622000													33	35					0	0	0.048971	0	0
CHD7	55636	broad.mit.edu	37	8	61769311	61769311	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:61769311G>A	ENST00000423902.2	+	34	7951	c.7472G>A	c.(7471-7473)cGc>cAc	p.R2491H	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2491					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCCTTTCGCGCACACCCACA	0.488000													6	322					0	0	0.021553	0	0
GRM7	2917	broad.mit.edu	37	3	7456760	7456760	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:7456760G>T	ENST00000486284.1	+	5	1358	c.1084G>T	c.(1084-1086)Gta>Tta	p.V362L	GRM7_ENST00000403881.1_Missense_Mutation_p.V362L|GRM7_ENST00000389336.4_Missense_Mutation_p.V362L|GRM7_ENST00000402647.2_Missense_Mutation_p.V362L|GRM7_ENST00000357716.4_Missense_Mutation_p.V362L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	362					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAGAAGAAATGTATGGTTTGC	0.418000													56	61					1.13205e-32	1.62572e-32	0.048971	1	0
SAGE1	55511	broad.mit.edu	37	X	134990674	134990674	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:134990674G>T	ENST00000535938.1	+	12	1506	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	SAGE1_ENST00000370709.3_Nonsense_Mutation_p.E447*|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E447*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	447										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGCAAGGATGGAAAATGGCCA	0.428000													63	80					2.165e-29	3.07446e-29	0.048971	1	0
HCLS1	3059	broad.mit.edu	37	3	121363685	121363685	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:121363685C>G	ENST00000314583.3	-	5	470	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	HCLS1_ENST00000428394.2_Missense_Mutation_p.E127Q	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	127					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTGTCCCTCTCAACTCCGTAC	0.552000													24	169					0	0	0.021523	0	0
KSR1	8844	broad.mit.edu	37	17	25936223	25936223	+	Splice_Site	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:25936223G>A	ENST00000398988.3	+	18	2193	c.1746_splice	c.e18-1	p.G583_splice	KSR1_ENST00000268763.6_Splice_Site_p.G583_splice|KSR1_ENST00000509603.2_Splice_Site_p.G698_splice|KSR1_ENST00000319524.6_Splice_Site_p.G720_splice	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	718					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTCCTCCAGGGCATGGGATAT	0.488000													8	36					0	0	0.038147	0	0
OR1I1	126370	broad.mit.edu	37	19	15197931	15197931	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:15197931G>A	ENST00000209540.2	+	1	141	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GGGACTCTCAGAAAAGCCAGA	0.468000													5	87					0	0	0.029380	0	0
PKHD1	5314	broad.mit.edu	37	6	51890773	51890773	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:51890773C>T	ENST00000371117.3	-	32	4110	c.3835G>A	c.(3835-3837)Gcc>Acc	p.A1279T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1279T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1279	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGACCACGGGCGAAGAACCTG	0.582000													17	113					0	0	0.038395	0	0
HECW2	57520	broad.mit.edu	37	2	197184183	197184183	+	Silent	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:197184183A>G	ENST00000260983.2	-	9	1613	c.1431T>C	c.(1429-1431)ggT>ggC	p.G477G	HECW2_ENST00000409111.1_Silent_p.G121G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	477					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AAGATGGGTAACCCAGGTCTT	0.493000													18	54					0	0	0.038395	0	0
TMEM40	55287	broad.mit.edu	37	3	12791318	12791318	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:12791318G>A	ENST00000314124.7	-	2	370	c.14C>T	c.(13-15)gCa>gTa	p.A5V	TMEM40_ENST00000264728.8_Missense_Mutation_p.A5V|TMEM40_ENST00000435218.2_Missense_Mutation_p.A5V|TMEM40_ENST00000431022.2_Missense_Mutation_p.A21V|TMEM40_ENST00000435575.1_Missense_Mutation_p.A5V	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	5						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						GGAGGAGGATGCTGAAGTCTC	0.413000													37	57					0	0	0.023175	0	0
MDN1	23195	broad.mit.edu	37	6	90394621	90394621	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:90394621G>A	ENST00000369393.3	-	71	11918	c.11803C>T	c.(11803-11805)Cgt>Tgt	p.R3935C	MDN1_ENST00000428876.1_Missense_Mutation_p.R3935C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3935					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.R3935C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGGGGGAACGAAGTTCCACA	0.393000													9	99					0	0	0.010729	0	0
SLC7A14	57709	broad.mit.edu	37	3	170201305	170201305	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:170201305C>T	ENST00000231706.4	-	6	1228	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	305						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GTTAAGATCACGCTCACCTGT	0.512000											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	71					0	0	0.016723	0	0
HAS1	3036	broad.mit.edu	37	19	52222521	52222521	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:52222521C>A	ENST00000540069.2	-	2	697	c.637G>T	c.(637-639)Ggc>Tgc	p.G213C	HAS1_ENST00000222115.1_Missense_Mutation_p.G214C|HAS1_ENST00000601714.1_Missense_Mutation_p.G221C|HAS1_ENST00000594621.1_Missense_Mutation_p.G68C			Q92839	HAS1_HUMAN	hyaluronan synthase 1	214					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCGCGCTTGCCGCCCCAGCGC	0.672000													21	59					5.26018e-13	6.52399e-13	0.062417	1	0
F13A1	2162	broad.mit.edu	37	6	6175086	6175086	+	Silent	SNP	T	T	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:6175086T>G	ENST00000264870.3	-	12	1739	c.1474A>C	c.(1474-1476)Aga>Cga	p.R492R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	492					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGGGCCAATCTCTCTTCTTCT	0.458000													16	72					0	0	0.028581	0	0
STAC	6769	broad.mit.edu	37	3	36545950	36545950	+	Splice_Site	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:36545950G>T	ENST00000273183.3	+	7	1131		c.e7+1		STAC_ENST00000476388.1_Splice_Site|STAC_ENST00000457375.2_Splice_Site	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain						intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AAACCACCAGGTATTTATGGA	0.428000													69	139					1.91123e-38	2.81888e-38	0.048971	1	0
SRD5A2	6716	broad.mit.edu	37	2	31756524	31756524	+	RNA	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:31756524A>G	ENST00000405650.1	-	0	629				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TCCCATTCCCAAAATAAATAA	0.383000													16	41					0	0	0.033300	0	0
ETS1	2113	broad.mit.edu	37	11	128332264	128332264	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:128332264C>T	ENST00000392668.3	-	10	1518	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000535549.1_Missense_Mutation_p.D224N|ETS1_ENST00000319397.5_Missense_Mutation_p.D440N|ETS1_ENST00000526145.1_Missense_Mutation_p.D353N|ETS1_ENST00000345075.4_Missense_Mutation_p.D353N	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	440					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CATCACTCGTCGGCATCTGGC	0.547000													3	39					0	0	0.009096	0	0
ACBD4	79777	broad.mit.edu	37	17	43213883	43213883	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:43213883C>T	ENST00000431281.1	+	5	574	c.105C>T	c.(103-105)tcC>tcT	p.S35S	ACBD4_ENST00000376955.4_Silent_p.S35S|ACBD4_ENST00000321854.8_Silent_p.S35S|ACBD4_ENST00000398322.3_Silent_p.S35S|ACBD4_ENST00000592162.1_Silent_p.S35S|ACBD4_ENST00000591859.1_Silent_p.S35S|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000586346.1_Silent_p.S35S	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	35	ACB.						fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						ACCGCCCCTCCTATGAAGAGA	0.612000													4	79					0	0	0.009096	0	0
FANCM	57697	broad.mit.edu	37	14	45644575	45644575	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:45644575G>A	ENST00000267430.5	+	14	2703	c.2618G>A	c.(2617-2619)gGt>gAt	p.G873D	FANCM_ENST00000542564.2_Missense_Mutation_p.G847D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	873					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATAATCACGGTATTATAGAT	0.259000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	69					0	0	0.038395	0	0
SEC23A	10484	broad.mit.edu	37	14	39508297	39508297	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:39508297G>A	ENST00000537403.1	-	15	2742	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	SEC23A_ENST00000545328.2_Missense_Mutation_p.R687C|SEC23A_ENST00000536508.1_Missense_Mutation_p.R614C|SEC23A_ENST00000307712.6_Missense_Mutation_p.R716C			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	716					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGGAGGAAACGGGCCTTAAAA	0.323000													23	92					0	0	0.016522	0	0
GP1BA	2811	broad.mit.edu	37	17	4836599	4836599	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:4836599C>T	ENST00000329125.5	+	2	775	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	234										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CTATTTTCGTCGCTGGCTGCA	0.498000													13	130					0	0	0.043863	0	0
TNC	3371	broad.mit.edu	37	9	117848842	117848842	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr9:117848842C>A	ENST00000350763.4	-	3	1579	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	TNC_ENST00000341037.4_Missense_Mutation_p.G390W|TNC_ENST00000537320.1_Missense_Mutation_p.G390W|TNC_ENST00000340094.3_Missense_Mutation_p.G390W|TNC_ENST00000535648.1_Missense_Mutation_p.G390W|TNC_ENST00000345230.3_Missense_Mutation_p.G390W|TNC_ENST00000423613.2_Missense_Mutation_p.G390W|TNC_ENST00000542877.1_Missense_Mutation_p.G390W|TNC_ENST00000346706.3_Missense_Mutation_p.G390W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	390	EGF-like 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCACACCGCCCGTCTACACAG	0.587000													16	45					2.08457e-15	2.68116e-15	0.045705	1	0
AIM1	202	broad.mit.edu	37	6	106992541	106992541	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:106992541G>A	ENST00000369066.3	+	10	4398	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	AIM1_ENST00000535438.1_Missense_Mutation_p.G123E|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1304	Beta/gamma crystallin 'Greek key' 6.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGTTACAATGGAGAGCTTCAG	0.413000													9	218					0	0	0.020292	0	0
TBC1D32	221322	broad.mit.edu	37	6	121563386	121563386	+	Silent	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:121563386A>G	ENST00000275159.6	-	18	2117	c.2118T>C	c.(2116-2118)tgT>tgC	p.C706C	TBC1D32_ENST00000398212.2_Silent_p.C706C					TBC1 domain family, member 32																		TAAATGTCACACATTCATTGA	0.343000													35	132					0	0	0.059317	0	0
RIMS1	22999	broad.mit.edu	37	6	73110294	73110294	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:73110294A>T	ENST00000264839.7	+	30	4504	c.4504A>T	c.(4504-4506)Atc>Ttc	p.I1502F	RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000538414.1_Missense_Mutation_p.I459F|RIMS1_ENST00000523963.1_Missense_Mutation_p.I778F|RIMS1_ENST00000521978.1_Missense_Mutation_p.I1653F|RIMS1_ENST00000414192.2_Missense_Mutation_p.I180F|RIMS1_ENST00000425662.2_Missense_Mutation_p.I721F|RIMS1_ENST00000518273.1_Missense_Mutation_p.I1332F|RIMS1_ENST00000401910.3_Missense_Mutation_p.I973F|RIMS1_ENST00000348717.5_Missense_Mutation_p.I1436F|RIMS1_ENST00000520567.1_Missense_Mutation_p.I1303F|RIMS1_ENST00000517960.1_Missense_Mutation_p.I1436F|RIMS1_ENST00000517827.1_Missense_Mutation_p.I787F|RIMS1_ENST00000522291.1_Missense_Mutation_p.I1252F|RIMS1_ENST00000491071.2_Missense_Mutation_p.I1442F			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1653					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGCATGGTGATCGGATGGTA	0.537000													69	216					0	0	0.048971	0	0
TRIM21	6737	broad.mit.edu	37	11	4406748	4406748	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:4406748G>T	ENST00000254436.7	-	7	1307	c.1195C>A	c.(1195-1197)Cac>Aac	p.H399N	TRIM21_ENST00000543625.1_Missense_Mutation_p.H399N	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	399	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACCTGAAGGTGGAGGGGAGTC	0.507000													16	44					6.31663e-08	7.37906e-08	0.024245	1	0
DNAJB14	79982	broad.mit.edu	37	4	100825031	100825031	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:100825031C>A	ENST00000442697.2	-	7	1021	c.867G>T	c.(865-867)atG>atT	p.M289I		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	289					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTTCTGTTTGCATTTTAATAG	0.308000													19	43					1.28384e-07	1.48614e-07	0.062417	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20496727	20496727	+	RNA	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:20496727C>G	ENST00000555186.1	+	0	780					NR_038836.1																						CCTTCTTTCACTCTGTCATCT	0.403000													6	11					0	0	0.029380	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10697656	10697656	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:10697656G>A	ENST00000379568.3	+	2	475	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	62					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				GAGCAAAGATGAAACAATTCA	0.428000													7	256					0	0	0.029380	0	0
AIM1	202	broad.mit.edu	37	6	106992504	106992504	+	Missense_Mutation	SNP	G	G	A	rs147164584	byFrequency	TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:106992504G>A	ENST00000369066.3	+	10	4361	c.3874G>A	c.(3874-3876)Gaa>Aaa	p.E1292K	AIM1_ENST00000535438.1_Missense_Mutation_p.E111K|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1292	Beta/gamma crystallin 'Greek key' 6.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGAAGGAGAATACAGGGA	0.423000													7	252					0	0	0.038395	0	0
TICRR	90381	broad.mit.edu	37	15	90135399	90135399	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:90135399G>A	ENST00000268138.7	+	5	1638	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TICRR_ENST00000560985.1_Silent_p.E510E					TOPBP1-interacting checkpoint and replication regulator																		ATTTGATGGAGTCATTTGGGT	0.408000													36	147					0	0	0.033182	0	0
RAI14	26064	broad.mit.edu	37	5	34807958	34807958	+	Silent	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:34807958T>C	ENST00000265109.3	+	6	662	c.375T>C	c.(373-375)taT>taC	p.Y125Y	RAI14_ENST00000428746.2_Silent_p.Y125Y|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Silent_p.Y128Y|RAI14_ENST00000503673.1_Silent_p.Y125Y|RAI14_ENST00000512629.1_Silent_p.Y125Y|RAI14_ENST00000506376.1_Silent_p.Y117Y|RAI14_ENST00000397449.1_Silent_p.Y118Y	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	125						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTTTACATTATGCAGGTAACT	0.378000													39	573					0	0	0.048971	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820173	159820173	+	RNA	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:159820173G>T	ENST00000497452.1	-	0	517																											CTCAAGACAGGCTCATAGCGC	0.423000													28	120					8.88839e-20	1.19136e-19	0.045705	1	0
STAG2	10735	broad.mit.edu	37	X	123229240	123229240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:123229240C>T	ENST00000371160.1	+	33	3903	c.3613C>T	c.(3613-3615)Cga>Tga	p.R1205*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1242*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1205*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1242*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1205*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R1136*			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1205					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAAGAACAGACGAGAGAGAAC	0.343000													21	106					0	0	0.021523	0	0
AIM1	202	broad.mit.edu	37	6	106992709	106992709	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:106992709G>A	ENST00000369066.3	+	11	4476	c.3989G>A	c.(3988-3990)gGa>gAa	p.G1330E	AIM1_ENST00000535438.1_Missense_Mutation_p.G149E|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1330	Beta/gamma crystallin 'Greek key' 7.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAAACTTTGGATCCAAAGGT	0.328000													6	209					0	0	0.047766	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130877	52130877	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:52130877C>T	ENST00000222107.4	-	6	1258	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G374R|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G374R|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G374R|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G374R			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	374					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTGCTGTTCCCCTCCAGCGGC	0.667000													7	13					0	0	0.010729	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682627	65682627	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:65682627C>T	ENST00000352385.2	-	13	2483	c.2274G>A	c.(2272-2274)gcG>gcA	p.A758A		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	758	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGTTTGATTCCGCATGGACGT	0.542000													26	82					0	0	0.050027	0	0
AP3B1	8546	broad.mit.edu	37	5	77396792	77396792	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:77396792G>C	ENST00000255194.6	-	21	2630	c.2455C>G	c.(2455-2457)Cta>Gta	p.L819V	AP3B1_ENST00000519295.1_Missense_Mutation_p.L770V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	819					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCCAGATCTAGAAGTGAAACA	0.264000									Hermansky-Pudlak syndrome				2	2					0	0	0.004672	0	0
CDH17	1015	broad.mit.edu	37	8	95164334	95164334	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:95164334C>T	ENST00000027335.3	-	13	1682	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	CDH17_ENST00000450165.2_Missense_Mutation_p.D520N|CDH17_ENST00000441892.2_Missense_Mutation_p.D306N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	520	Cadherin 5.					integral to membrane	calcium ion binding	p.D520H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTTTCAAAATCAAGAGGCTGT	0.373000													13	204					0	0	0.016723	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007878	32007878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:32007878G>T	ENST00000418967.2	+	7	993	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	CYP21A2_ENST00000435122.2_Nonsense_Mutation_p.E249*	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	278					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						ACAGCTCCTGGAAGGGCACGT	0.617000													25	148					9.39395e-14	1.18824e-13	0.030593	1	0
DHX36	170506	broad.mit.edu	37	3	154011603	154011603	+	Splice_Site	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:154011603T>C	ENST00000496811.1	-	14	1686		c.e14-2		DHX36_ENST00000544526.1_Splice_Site|DHX36_ENST00000329463.5_Splice_Site|DHX36_ENST00000308361.6_Splice_Site	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36							cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTAAACACCTGTAAAAATAA	0.299000													19	92					0	0	0.049695	0	0
MTOR	2475	broad.mit.edu	37	1	11319410	11319410	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:11319410C>A	ENST00000361445.4	-	2	133	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	19					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCAGGACGCTCACATTGCTAG	0.552000													21	74					5.43694e-19	7.23662e-19	0.023175	1	0
ZNF564	163050	broad.mit.edu	37	19	12639124	12639124	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:12639124A>T	ENST00000339282.7	-	3	381	c.185T>A	c.(184-186)aTt>aAt	p.I62N	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTACCTTAAAATTCTCCCCTG	0.323000													14	62					0	0	0.028581	0	0
TTN	7273	broad.mit.edu	37	2	179605006	179605006	+	Silent	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:179605006A>G	ENST00000589042.1	-	48	13178	c.12954T>C	c.(12952-12954)tcT>tcC	p.S4318S	TTN_ENST00000460472.2_Silent_p.S3955S|TTN_ENST00000359218.5_Silent_p.S4080S|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.S4147S|TTN_ENST00000591111.1_Silent_p.S4001S|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4001	Ig-like 23.						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)			TTCTGACCGCAGAATCTTGCC	0.438000													120	220					0	0	0.048971	0	0
SMC6	79677	broad.mit.edu	37	2	17927206	17927206	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:17927206T>C	ENST00000448223.2	-	3	277	c.8A>G	c.(7-9)aAa>aGa	p.K3R	SMC6_ENST00000402989.1_Missense_Mutation_p.K3R|SMC6_ENST00000381272.4_Missense_Mutation_p.K3R|SMC6_ENST00000351948.4_Missense_Mutation_p.K3R	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	3					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCCTTTCTTTTGGCCATCAG	0.313000													10	21					0	0	0.013537	0	0
CDH17	1015	broad.mit.edu	37	8	95164221	95164221	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:95164221C>T	ENST00000027335.3	-	13	1795	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	CDH17_ENST00000450165.2_Silent_p.V557V|CDH17_ENST00000441892.2_Silent_p.V343V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	557	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACATCTGTCACAATAAGCG	0.433000													11	242					0	0	0.013537	0	0
TRRAP	8295	broad.mit.edu	37	7	98606135	98606135	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:98606135A>G	ENST00000359863.4	+	69	11056	c.10847A>G	c.(10846-10848)tAt>tGt	p.Y3616C	TRRAP_ENST00000355540.3_Missense_Mutation_p.Y3587C|TRRAP_ENST00000446306.3_Missense_Mutation_p.Y3605C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3616	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCGTTACTATGACCGGCTG	0.652000													19	43					0	0	0.014323	0	0
ABAT	18	broad.mit.edu	37	16	8841973	8841973	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:8841973G>C	ENST00000396600.2	+	4	1115	c.177G>C	c.(175-177)atG>atC	p.M59I	ABAT_ENST00000567812.1_Missense_Mutation_p.M74I|ABAT_ENST00000425191.2_Missense_Mutation_p.M59I|ABAT_ENST00000268251.8_Missense_Mutation_p.M59I|ABAT_ENST00000569156.1_Missense_Mutation_p.M59I	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	59					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	AGGAGTTAATGAAACAGCTGA	0.368000													53	88					0	0	0.048971	0	0
OR51D1	390038	broad.mit.edu	37	11	4661248	4661248	+	Silent	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:4661248G>C	ENST00000357605.2	+	1	304	c.228G>C	c.(226-228)ctG>ctC	p.L76L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTCTTCCTGGCCATGCTTT	0.507000													125	246					0	0	0.048971	0	0
SGCD	6444	broad.mit.edu	37	5	156186284	156186284	+	Silent	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:156186284G>C	ENST00000435422.3	+	8	1240	c.753G>C	c.(751-753)acG>acC	p.T251T	SGCD_ENST00000337851.4_Silent_p.T252T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	251					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCCTACACGCCTACAGGAA	0.493000													44	125					0	0	0.048971	0	0
MRPL15	29088	broad.mit.edu	37	8	55055223	55055223	+	Splice_Site	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:55055223G>T	ENST00000260102.4	+	4	504	c.429_splice	c.e4-1	p.G144_splice		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	144					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CATATTTCAGGGTGCTGACAC	0.378000													22	46					3.8784e-16	5.03929e-16	0.062417	1	0
HTT	3064	broad.mit.edu	37	4	3231757	3231757	+	Silent	SNP	C	C	T	rs2229985		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:3231757C>T	ENST00000355072.5	+	60	8398	c.8253C>T	c.(8251-8253)gcC>gcT	p.A2751A	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2751					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGCAGCTGCCGTCCTTGGGA	0.602000													10	25					0	0	0.010729	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36234710	36234710	+	Splice_Site	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:36234710C>G	ENST00000412391.2	-	7	591	c.578_splice	c.e7+1	p.R193_splice	AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000378975.3_Splice_Site_p.R154_splice|U2AF1L4_ENST00000292879.5_Splice_Site_p.G135_splice			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	193					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTGAGGTACCTGCGCCTGGG	0.572000													3	12					0	0	0.009096	0	0
ADARB1	104	broad.mit.edu	37	21	46602546	46602546	+	Silent	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr21:46602546A>G	ENST00000539173.1	+	6	1560	c.1125A>G	c.(1123-1125)acA>acG	p.T375T	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Silent_p.T375T|ADARB1_ENST00000389863.4_Silent_p.T375T|ADARB1_ENST00000348831.4_Silent_p.T375T	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	375	A to I editase.				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)		CTACAGGAACAAAATGTATTA	0.348000													18	110					0	0	0.014323	0	0
SPEG	10290	broad.mit.edu	37	2	220352942	220352942	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:220352942C>T	ENST00000312358.7	+	32	7900	c.7768C>T	c.(7768-7770)Ctc>Ttc	p.L2590F	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2590	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCACATCAAACTCAAGGACCA	0.602000													14	24					0	0	0.028581	0	0
C1orf51	148523	broad.mit.edu	37	1	150259308	150259308	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:150259308G>A	ENST00000290363.5	+	5	1549	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	C1orf51_ENST00000369094.1_Missense_Mutation_p.R279Q|C1orf51_ENST00000369095.1_Missense_Mutation_p.R367Q	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	367										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATAGGACACCGGGAGCAGCAG	0.522000													6	221					0	0	0.038147	0	0
RANBP6	26953	broad.mit.edu	37	9	6015441	6015441	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr9:6015441G>T	ENST00000259569.5	-	1	177	c.167C>A	c.(166-168)gCc>gAc	p.A56D	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	56					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTCTGACGGCATCTAAGAG	0.473000													29	42					2.80507e-11	3.40171e-11	0.050027	1	0
P2RY10	27334	broad.mit.edu	37	X	78216046	78216046	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:78216046C>A	ENST00000171757.2	+	4	309	c.29C>A	c.(28-30)aCa>aAa	p.T10K	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.T10K	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	10						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TACACTGAAACATTCAAGATG	0.363000													106	139					2.38877e-60	3.59256e-60	0.048971	1	0
BTBD16	118663	broad.mit.edu	37	10	124049435	124049435	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:124049435A>T	ENST00000368994.2	+	6	651	c.400A>T	c.(400-402)Aag>Tag	p.K134*	BTBD16_ENST00000260723.4_Nonsense_Mutation_p.K133*			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	133										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TCAATCACCTAAGAAGACCAA	0.453000													29	127					0	0	0.037714	0	0
DES	1674	broad.mit.edu	37	2	220290416	220290416	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:220290416C>A	ENST00000373960.3	+	8	1406	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	AC053503.6_ENST00000431827.1_RNA	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	440	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTTCTGAGGTCCATACCAAGA	0.572000													3	3					0.00909568	0.00939068	0.009096	1	0
RTL1	388015	broad.mit.edu	37	14	101348343	101348343	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:101348343C>A	ENST00000534062.1	-	1	2841	c.2783G>T	c.(2782-2784)cGg>cTg	p.R928L	MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	928										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GAAGGCAGCCCGTATTGGAAG	0.532000													13	26					2.23348e-06	2.53172e-06	0.028581	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	38					0	0	0.004672	0	0
HIST1H2AL	8332	broad.mit.edu	37	6	27833191	27833191	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:27833191C>T	ENST00000357320.2	+	1	158	c.59C>T	c.(58-60)tCt>tTt	p.S20F		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	20					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						ACCCGCTCTTCTCGTGCCGGT	0.647000													16	157					0	0	0.038395	0	0
FNDC1	84624	broad.mit.edu	37	6	159653380	159653380	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:159653380G>T	ENST00000297267.9	+	11	2036	c.1836G>T	c.(1834-1836)gcG>gcT	p.A612A	FNDC1_ENST00000340366.6_Silent_p.A549A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	612						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)		GCCCAGGGGCGCCCCCCTCGG	0.687000													3	16					0.00198382	0.00208765	0.029380	1	0
BEND4	389206	broad.mit.edu	37	4	42145891	42145891	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:42145891T>A	ENST00000502486.1	-	3	1187	c.608A>T	c.(607-609)cAg>cTg	p.Q203L	BEND4_ENST00000504360.1_Missense_Mutation_p.Q199L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	203										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGAGCCTTCCTGCTTTACGCA	0.473000													12	18					0	0	0.016723	0	0
SERPINE1	5054	broad.mit.edu	37	7	100773739	100773739	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:100773739G>C	ENST00000223095.4	+	3	466	c.309G>C	c.(307-309)aaG>aaC	p.K103N	SERPINE1_ENST00000445463.2_Missense_Mutation_p.K88N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	103					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	ATCTGTACAAGGAGCTCATGG	0.592000													89	232					0	0	0.048971	0	0
SRCAP	10847	broad.mit.edu	37	16	30723431	30723431	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:30723431G>A	ENST00000262518.4	+	12	2153	c.1768G>A	c.(1768-1770)Gca>Aca	p.A590T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A590T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A590T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	590					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.A590T(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CATTGCTGCAGCAGCTGAAAG	0.547000													13	169					0	0	0.020292	0	0
KIF13A	63971	broad.mit.edu	37	6	17800239	17800239	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:17800239C>G	ENST00000378814.5	-	21	2559	c.2560G>C	c.(2560-2562)Gaa>Caa	p.E854Q	KIF13A_ENST00000378826.2_Missense_Mutation_p.E854Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.E854Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.E854Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.E854Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	854					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTACGACTTCAAGGCTCCCA	0.512000													77	235					0	0	0.048971	0	0
MARK3	4140	broad.mit.edu	37	14	103966507	103966507	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:103966507A>T	ENST00000429436.2	+	17	2396	c.1886A>T	c.(1885-1887)tAt>tTt	p.Y629F	MARK3_ENST00000553942.1_Missense_Mutation_p.Y620F|MARK3_ENST00000440884.3_Intron|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Intron|MARK3_ENST00000335102.5_Missense_Mutation_p.Y652F|MARK3_ENST00000303622.9_Intron|MARK3_ENST00000216288.7_Intron	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	629							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CCAACTGAATATGAGAGGAAC	0.403000											OREG0022950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	11					0	0	0.033300	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463553	241463553	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:241463553C>A	ENST00000391987.1	-	8	1680	c.1314G>T	c.(1312-1314)gtG>gtT	p.V438V	ANKMY1_ENST00000272972.3_Silent_p.V438V|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000403283.1_Silent_p.V376V|ANKMY1_ENST00000401804.1_Silent_p.V527V|ANKMY1_ENST00000373320.4_Silent_p.V208V|ANKMY1_ENST00000361678.4_Silent_p.V297V|ANKMY1_ENST00000373318.2_Silent_p.V297V|ANKMY1_ENST00000405523.3_Silent_p.V297V|ANKMY1_ENST00000405002.1_Silent_p.V208V|ANKMY1_ENST00000536462.1_Silent_p.V250V			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	438							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGCCCTTCACCAACGGGG	0.617000													5	36					0.014758	0.0151956	0.014758	1	0
ST7	7982	broad.mit.edu	37	7	116830964	116830964	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:116830964G>T	ENST00000265437.5	+	12	1442	c.1228G>T	c.(1228-1230)Gtg>Ttg	p.V410L	ST7_ENST00000432298.1_Missense_Mutation_p.V364L|ST7_ENST00000323984.3_Missense_Mutation_p.V410L|ST7_ENST00000393451.3_Missense_Mutation_p.V387L|ST7_ENST00000393444.3_Missense_Mutation_p.V344L|ST7_ENST00000393449.1_Missense_Mutation_p.V410L|ST7_ENST00000393443.1_Missense_Mutation_p.V337L|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000393447.4_Missense_Mutation_p.V367L|ST7_ENST00000422922.1_Missense_Mutation_p.V341L|ST7_ENST00000393446.2_Missense_Mutation_p.V387L	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	410						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCATAGAGCTGTGGAATTCAA	0.473000													35	107					1.03484e-13	1.30035e-13	0.023175	1	0
ARPC1B	10095	broad.mit.edu	37	7	98985774	98985774	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:98985774G>A	ENST00000451682.1	+	6	591	c.282G>A	c.(280-282)cgG>cgA	p.R94R	ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Silent_p.R94R			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	94					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCATCCTGCGGATCAACCGGG	0.627000													4	48					0	0	0.009096	0	0
NPR2	4882	broad.mit.edu	37	9	35793020	35793020	+	Silent	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr9:35793020A>G	ENST00000342694.2	+	1	870	c.615A>G	c.(613-615)cgA>cgG	p.R205R		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	205					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGTATGCCCGAGAGCCAGGGG	0.637000													4	36					0	0	0.009096	0	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015478	53015478	+	RNA	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:53015478A>G	ENST00000599143.1	-	0	117																											ATCACGCCTTAAAAGACATAG	0.403000													15	47					0	0	0.020292	0	0
POU3F4	5456	broad.mit.edu	37	X	82763625	82763625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:82763625C>A	ENST00000373200.2	+	1	357	c.293C>A	c.(292-294)tCg>tAg	p.S98*	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	98					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CATCACCGCTCGCCACACGTA	0.677000													13	22					1.15919e-05	1.29476e-05	0.049695	1	0
FABP12	646486	broad.mit.edu	37	8	82441719	82441719	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:82441719A>G	ENST00000360464.4	-	2	262	c.200T>C	c.(199-201)cTg>cCg	p.L67P	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	67							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						CTCTTCTCCCAGCTTAAAGGA	0.413000													53	252					0	0	0.048971	0	0
EYS	346007	broad.mit.edu	37	6	66200586	66200586	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:66200586C>G	ENST00000503581.1	-	5	1300	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	EYS_ENST00000370616.2_Missense_Mutation_p.E255Q|EYS_ENST00000370618.3_Missense_Mutation_p.E255Q|EYS_ENST00000342421.5_Missense_Mutation_p.E255Q|EYS_ENST00000393380.2_Missense_Mutation_p.E255Q|EYS_ENST00000370621.3_Missense_Mutation_p.E255Q	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	255					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCAATTATTTCTGAGCAATTC	0.299000													45	166					0	0	0.048971	0	0
FAM135B	51059	broad.mit.edu	37	8	139163568	139163568	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:139163568C>A	ENST00000395297.1	-	13	3320	c.3150G>T	c.(3148-3150)gaG>gaT	p.E1050D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1050										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGCAGGGGTCTCCTTGGGCA	0.527000										HNSCC(54;0.14)			29	92					3.99451e-17	5.22569e-17	0.041601	1	0
HAPLN1	1404	broad.mit.edu	37	5	82948427	82948427	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:82948427C>T	ENST00000274341.4	-	3	1167	c.317G>A	c.(316-318)gGa>gAa	p.G106E	HAPLN1_ENST00000514416.1_Missense_Mutation_p.G106E	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	106	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CTGGTAGCCTCCATAGGTTTT	0.433000													5	235					0	0	0.014758	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063473	48063473	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:48063473C>G	ENST00000316364.5	+	19	3152	c.2713C>G	c.(2713-2715)Cag>Gag	p.Q905E	SEMA6D_ENST00000389432.2_Missense_Mutation_p.Q862E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.Q886E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.Q843E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.Q849E|SEMA6D_ENST00000536845.2_Missense_Mutation_p.Q905E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.Q830E|SEMA6D_ENST00000537942.1_Missense_Mutation_p.Q843E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.Q843E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	905					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GATGGCACACCAGAACTTAAT	0.498000													71	285					0	0	0.048971	0	0
PGAM1	5223	broad.mit.edu	37	10	99190889	99190889	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:99190889G>C	ENST00000334828.5	+	3	740	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	198					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CAAGCATCTGGAGGGTATGTA	0.507000													6	74					0	0	0.047766	0	0
NRP1	8829	broad.mit.edu	37	10	33469171	33469171	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:33469171C>G	ENST00000265371.4	-	18	3130	c.2605G>C	c.(2605-2607)Gtc>Ctc	p.V869L	NRP1_ENST00000374867.2_Missense_Mutation_p.V869L|NRP1_ENST00000395995.1_Missense_Mutation_p.V852L			O14786	NRP1_HUMAN	neuropilin 1	869					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCCAGGAGGACCCCCAGGGCA	0.517000													96	191					0	0	0.048971	0	0
C1orf173	127254	broad.mit.edu	37	1	75038553	75038553	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:75038553C>G	ENST00000326665.5	-	14	3059	c.2841G>C	c.(2839-2841)gaG>gaC	p.E947D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	947	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGGATGCTTCCTCTTCACTTT	0.552000													67	546					0	0	0.048971	0	0
G3BP2	9908	broad.mit.edu	37	4	76582152	76582152	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:76582152T>A	ENST00000359707.4	-	5	1183	c.398A>T	c.(397-399)tAt>tTt	p.Y133F	G3BP2_ENST00000357854.3_Missense_Mutation_p.Y133F|G3BP2_ENST00000395719.3_Missense_Mutation_p.Y133F|G3BP2_ENST00000502654.1_5'UTR	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	133	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCATCTTCATAACGAAACAT	0.323000													42	123					0	0	0.048971	0	0
CFB	629	broad.mit.edu	37	6	31919702	31919702	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:31919702G>A	ENST00000456570.1	+	30	3751	c.3696G>A	c.(3694-3696)cgG>cgA	p.R1232R	CFB_ENST00000477310.1_Silent_p.R1081R|CFB_ENST00000425368.2_Silent_p.R730R|CFB_ENST00000556679.1_Silent_p.R1232R			P00751	CFAB_HUMAN	complement factor B	730					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCAGAAGCGGCAAAAGCAGG	0.502000													7	411					0	0	0.038147	0	0
HMGB2	3148	broad.mit.edu	37	4	174254255	174254255	+	Silent	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:174254255C>G	ENST00000296503.5	-	3	1134	c.261G>C	c.(259-261)ggG>ggC	p.G87G	HMGB2_ENST00000446922.2_Silent_p.G87G|HMGB2_ENST00000438704.2_Silent_p.G87G			P26583	HMGB2_HUMAN	high mobility group box 2	87					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCTTTTTCTTCCCCTTCTTAT	0.398000													74	180					0	0	0.048971	0	0
HEATR5B	54497	broad.mit.edu	37	2	37306407	37306407	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:37306407C>T	ENST00000233099.5	-	3	289	c.194G>A	c.(193-195)gGa>gAa	p.G65E	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G65E	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	65							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTAGGTGGTCCAGGTGAACT	0.318000													7	33					0	0	0.038147	0	0
CLEC4M	10332	broad.mit.edu	37	19	7828197	7828197	+	Splice_Site	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:7828197G>A	ENST00000327325.5	+	1	163	c.46_splice	c.e1+1	p.L15_splice	CLEC4M_ENST00000596363.1_Splice_Site_p.L15_splice|CLEC4M_ENST00000596707.1_Splice_Site_p.L15_splice|CLEC4M_ENST00000359059.5_Splice_Site_p.L15_splice|CLEC4M_ENST00000357361.2_Splice_Site_p.L15_splice|CLEC4M_ENST00000597522.1_Splice_Site_p.L15_splice|CLEC4M_ENST00000595496.1_Splice_Site_p.L15_splice|CLEC4M_ENST00000248228.4_Splice_Site_p.L15_splice|CLEC4M_ENST00000334806.5_Splice_Site_p.L15_splice|CLEC4M_ENST00000394122.2_Splice_Site_p.L15_splice	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	15					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGGCCTCCTGGGTAAGGCTG	0.547000													16	120					0	0	0.028581	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442585	37442585	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:37442585T>C	ENST00000374660.1	+	13	1724	c.1625T>C	c.(1624-1626)tTa>tCa	p.L542S	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L542S|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.L542S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	598						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATGGAAAATTAGAAGGTAAG	0.333000													14	181					0	0	0.016723	0	0
NLRP14	338323	broad.mit.edu	37	11	7079571	7079571	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:7079571C>G	ENST00000299481.4	+	8	2869	c.2523C>G	c.(2521-2523)agC>agG	p.S841R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	841					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTCTCATCAGCAATAAAAGAC	0.443000													44	297					0	0	0.036044	0	0
TGFB1	7040	broad.mit.edu	37	19	41847856	41847856	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:41847856C>T	ENST00000221930.5	-	5	1658	c.792G>A	c.(790-792)ccG>ccA	p.P264P		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	264					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CCCTCTCCAGCGGGGTGGCCA	0.622000													3	29					0	0	0.004672	0	0
VPS39	23339	broad.mit.edu	37	15	42470654	42470654	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:42470654G>A	ENST00000318006.5	-	9	995	c.833C>T	c.(832-834)tCa>tTa	p.S278L	VPS39_ENST00000348544.4_Missense_Mutation_p.S289L	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	289	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTACCCTCCTGAGGTAATGAA	0.408000													62	146					0	0	0.048971	0	0
NCAM2	4685	broad.mit.edu	37	21	22790887	22790887	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr21:22790887C>A	ENST00000400546.1	+	11	1727	c.1478C>A	c.(1477-1479)gCt>gAt	p.A493D	NCAM2_ENST00000284894.7_Missense_Mutation_p.A351D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	493					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTTGCTTTGGCTGGTAAGTAT	0.338000													12	96					1.08611e-07	1.26107e-07	0.010729	1	0
CYP17A1	1586	broad.mit.edu	37	10	104594587	104594587	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:104594587G>T	ENST00000369887.3	-	3	792	c.621C>A	c.(619-621)gaC>gaA	p.D207E	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	207					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	TGCTCAGGTTGTCTATGATGC	0.493000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	85					9.8876e-21	1.32995e-20	0.021022	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735507	55735507	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:55735507G>A	ENST00000312345.2	-	1	483	c.433C>T	c.(433-435)Cct>Tct	p.P145S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P145T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATTACTACAGGAATTGTGATG	0.418000													12	122					0	0	0.016723	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404999	59404999	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:59404999G>A	ENST00000301645.3	-	5	1265	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	376					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGTAGGAACCGTCCTCAAGGT	0.448000									Neonatal Giant Cell Hepatitis				9	207					0	0	0.058154	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099006	92099006	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:92099006G>T	ENST00000493463.2	-	1	1613	c.690C>A	c.(688-690)acC>acA	p.T230T	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Silent_p.T230T	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		230					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						ttgaggtatgggttatttcca	0.418000													49	173					1.17673e-23	1.60539e-23	0.048971	1	0
PI4KB	5298	broad.mit.edu	37	1	151288800	151288800	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:151288800T>A	ENST00000368875.2	-	3	774	c.194A>T	c.(193-195)cAg>cTg	p.Q65L	PI4KB_ENST00000368873.1_Missense_Mutation_p.Q53L|PI4KB_ENST00000368872.1_Missense_Mutation_p.Q53L|PI4KB_ENST00000368874.4_Missense_Mutation_p.Q53L|PI4KB_ENST00000271657.5_Missense_Mutation_p.Q65L|PI4KB_ENST00000529142.1_Intron	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	53					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAACACCTCCTGGCAGGCCTT	0.587000													23	132					0	0	0.016522	0	0
GBP5	115362	broad.mit.edu	37	1	89730409	89730409	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:89730409G>C	ENST00000343435.5	-	8	1645	c.1109C>G	c.(1108-1110)tCt>tGt	p.S370C	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.S370C	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	370						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATCCTTGAAAGAGTTTTTCAT	0.458000													32	120					0	0	0.054565	0	0
DSCAML1	57453	broad.mit.edu	37	11	117375700	117375700	+	Silent	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:117375700A>G	ENST00000321322.6	-	10	2302	c.2301T>C	c.(2299-2301)ggT>ggC	p.G767G	DSCAML1_ENST00000527706.1_Silent_p.G497G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	707	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGTTGAGCACACCAGCTTTGC	0.567000													35	72					0	0	0.023175	0	0
RICTOR	253260	broad.mit.edu	37	5	38945134	38945134	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:38945134T>C	ENST00000357387.3	-	35	4700	c.4670A>G	c.(4669-4671)cAg>cGg	p.Q1557R	RICTOR_ENST00000296782.5_Missense_Mutation_p.Q1581R	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1557					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATGGATAGTCTGCTCACACCA	0.393000													44	296					0	0	0.036044	0	0
C17orf98	388381	broad.mit.edu	37	17	36991492	36991492	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:36991492G>A	ENST00000398575.4	-	3	480	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	139										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GTGCTCTGACGGAGGGCTGGA	0.512000													6	65					0	0	0.021553	0	0
LTBP1	4052	broad.mit.edu	37	2	33589406	33589406	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:33589406G>C	ENST00000404816.2	+	30	4876	c.4523G>C	c.(4522-4524)cGa>cCa	p.R1508P	LTBP1_ENST00000407925.1_Missense_Mutation_p.R1182P|LTBP1_ENST00000402934.1_Missense_Mutation_p.R1127P|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1509P|LTBP1_ENST00000404525.1_Missense_Mutation_p.R1129P|LTBP1_ENST00000418533.2_Missense_Mutation_p.R1140P|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1183P|LTBP1_ENST00000272273.5_Missense_Mutation_p.R406P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1508					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATGTATACGACCGGCTGAG	0.403000													14	39					0	0	0.024245	0	0
NCKAP1	10787	broad.mit.edu	37	2	183821318	183821318	+	Silent	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:183821318A>G	ENST00000360982.2	-	21	2801	c.2043T>C	c.(2041-2043)ctT>ctC	p.L681L	NCKAP1_ENST00000361354.3_Silent_p.L675L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	675					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCAATTTATCAAGGCTGAAAA	0.308000													3	113					0	0	0.004672	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458927	45458927	+	RNA	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:45458927C>A	ENST00000548424.1	+	0	448																											TTCAGCTTAACATCCAGAGCA	0.443000													24	79					1.1804e-14	1.50806e-14	0.021523	1	0
AOC4P	90586	broad.mit.edu	37	17	41020531	41020531	+	RNA	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:41020531G>T	ENST00000585538.1	+	0	1370					NR_002773.1																						ACGTGGACTGGCACTTCCTTT	0.577000													6	6					0.00116845	0.0012433	0.021553	1	0
PLAUR	5329	broad.mit.edu	37	19	44153059	44153059	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:44153059T>C	ENST00000221264.4	-	6	1282	c.856A>G	c.(856-858)Act>Gct	p.T286A	PLAUR_ENST00000340093.3_Missense_Mutation_p.T331A|PLAUR_ENST00000339082.3_Intron|PLAUR_ENST00000601723.1_Missense_Mutation_p.T282A	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	331	UPAR/Ly6 3.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGAGGAGAGTGCCTCCCCAC	0.632000													42	90					0	0	0.039052	0	0
GPR155	151556	broad.mit.edu	37	2	175318530	175318530	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:175318530C>A	ENST00000392552.2	-	11	2049	c.1811G>T	c.(1810-1812)tGc>tTc	p.C604F	GPR155_ENST00000392551.2_Missense_Mutation_p.C604F|GPR155_ENST00000295500.4_Missense_Mutation_p.C604F	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	604					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TATTGATGGGCAGTGTAATTC	0.433000													47	130					2.64894e-19	3.5381e-19	0.048971	1	0
BMP1	649	broad.mit.edu	37	8	22034084	22034084	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:22034084T>G	ENST00000306385.5	+	4	1142	c.472T>G	c.(472-474)Tgg>Ggg	p.W158G	BMP1_ENST00000397816.3_Missense_Mutation_p.W158G|BMP1_ENST00000306349.8_Missense_Mutation_p.W158G|BMP1_ENST00000397814.3_Missense_Mutation_p.W158G|BMP1_ENST00000354870.5_Missense_Mutation_p.W158G|BMP1_ENST00000523849.1_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	158	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CATGAGGCACTGGGAGAAGCA	0.617000													16	20					0	0	0.028581	0	0
DMD	1756	broad.mit.edu	37	X	32583858	32583858	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:32583858C>G	ENST00000357033.4	-	16	2159	c.1953G>C	c.(1951-1953)tgG>tgC	p.W651C	DMD_ENST00000288447.4_Missense_Mutation_p.W643C|DMD_ENST00000378677.2_Missense_Mutation_p.W647C	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	651					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTAAATTATCCCAACACCGGG	0.388000													51	51					0	0	0.048971	0	0
DACH2	117154	broad.mit.edu	37	X	86071078	86071078	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:86071078C>A	ENST00000373131.1	+	10	1850	c.1687C>A	c.(1687-1689)Cct>Act	p.P563T	DACH2_ENST00000477378.2_Intron|DACH2_ENST00000373125.4_Missense_Mutation_p.P576T|DACH2_ENST00000508860.1_Missense_Mutation_p.P409T|DACH2_ENST00000510272.1_Missense_Mutation_p.P357T	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAATGGGACTCCTCATGATAG	0.393000													42	56					3.86236e-30	5.50531e-30	0.048971	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103178462	103178462	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:103178462C>T	ENST00000375735.2	+	78	11539	c.11395C>T	c.(11395-11397)Ctt>Ttt	p.L3799F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3806F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3799	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATTGAATACTCTTCAACCTAA	0.289000													4	37					0	0	0.009096	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162339	90162339	+	RNA	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:90162339C>T	ENST00000564451.1	+	0	1692				TUBB8P7_ENST00000567960.1_RNA																							ACATCCCACTCCGGGGGCTAA	0.478000													4	109					0	0	0.014758	0	0
MATN2	4147	broad.mit.edu	37	8	99019788	99019788	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:99019788C>G	ENST00000254898.5	+	10	1763	c.1532C>G	c.(1531-1533)cCt>cGt	p.P511R	MATN2_ENST00000520016.1_Missense_Mutation_p.P511R|MATN2_ENST00000524308.1_Missense_Mutation_p.P470R|MATN2_ENST00000522025.2_Missense_Mutation_p.P227R|MATN2_ENST00000521689.1_Missense_Mutation_p.P511R	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	511	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTCAGTGTCCTGAGGGACAC	0.552000													31	112					0	0	0.019004	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738135	102738135	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:102738135C>T	ENST00000210633.3	+	5	597	c.519C>T	c.(517-519)ggC>ggT	p.G173G	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000370250.4_Silent_p.G173G|SEMA4G_ENST00000517724.1_Silent_p.G173G|MRPL43_ENST00000318325.2_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	173	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCTTCACAGGCCTCATCATTG	0.522000													7	23					0	0	0.038147	0	0
UNG	7374	broad.mit.edu	37	12	109547637	109547637	+	Missense_Mutation	SNP	C	C	T	rs143034537		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:109547637C>T	ENST00000336865.2	+	6	987	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	UNG_ENST00000242576.2_Missense_Mutation_p.R269W	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	269					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	p.R260W(1)|p.R269W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTTTCAGAAGCGGCACCATGT	0.413000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				18	113					0	0	0.018920	0	0
OR52N5	390075	broad.mit.edu	37	11	5799408	5799408	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:5799408C>A	ENST00000317093.2	-	1	489	c.457G>T	c.(457-459)Gct>Tct	p.A153S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GCAAGCTCAGCCTTGGCAATG	0.493000													39	236					6.21074e-16	8.04238e-16	0.042209	1	0
GRIK1	2897	broad.mit.edu	37	21	31062244	31062244	+	Silent	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr21:31062244G>C	ENST00000399914.1	-	3	869	c.348C>G	c.(346-348)gtC>gtG	p.V116V	GRIK1_ENST00000327783.4_Silent_p.V116V|GRIK1_ENST00000309434.7_Silent_p.V116V|GRIK1_ENST00000389125.3_Silent_p.V116V|GRIK1_ENST00000399907.1_Silent_p.V116V|GRIK1_ENST00000389124.2_Silent_p.V116V|GRIK1_ENST00000399909.1_Silent_p.V116V|GRIK1_ENST00000399913.1_Silent_p.V116V|GRIK1_ENST00000535441.1_Silent_p.V116V|GRIK1_ENST00000472429.1_5'UTR			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	116					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCACAGCACTGACGGAGGAGC	0.542000													30	205					0	0	0.041601	0	0
AIM1	202	broad.mit.edu	37	6	106992729	106992729	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:106992729G>A	ENST00000369066.3	+	11	4496	c.4009G>A	c.(4009-4011)Gat>Aat	p.D1337N	AIM1_ENST00000535438.1_Missense_Mutation_p.D156N|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1337	Beta/gamma crystallin 'Greek key' 7.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTCCAGTATTGATGTATTGGG	0.328000													5	274					0	0	0.013537	0	0
CHRNE	1145	broad.mit.edu	37	17	4804455	4804455	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:4804455G>T	ENST00000293780.4	-	7	642	c.632C>A	c.(631-633)cCg>cAg	p.P211Q	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	211					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GATCACCCCCGGGCAGAAGTC	0.697000													14	11					2.31682e-05	2.56529e-05	0.024245	1	0
RTN1	6252	broad.mit.edu	37	14	60213011	60213011	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:60213011C>A	ENST00000267484.5	-	2	765	c.430G>T	c.(430-432)Ggt>Tgt	p.G144C		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	144					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCGGGTGTACCCAGCTCCTCA	0.493000													79	165					1.32419e-22	1.78742e-22	0.048971	1	0
PIK3R4	30849	broad.mit.edu	37	3	130437287	130437287	+	Silent	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:130437287G>C	ENST00000356763.3	-	8	2630	c.2073C>G	c.(2071-2073)gtC>gtG	p.V691V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	691					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTTTACAGTAGACATCAGCTG	0.433000													41	359					0	0	0.027894	0	0
DQX1	165545	broad.mit.edu	37	2	74745631	74745631	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:74745631G>C	ENST00000404568.3	-	12	2315	c.2096C>G	c.(2095-2097)aCa>aGa	p.T699R	DQX1_ENST00000393951.2_Missense_Mutation_p.T699R	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	699						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCTCCCTGCTGTAGAATCTGC	0.532000													20	50					0	0	0.049695	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684448	80684448	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:80684448G>T	ENST00000269373.6	+	5	634	c.561G>T	c.(559-561)agG>agT	p.R187S	FN3KRP_ENST00000535965.1_Missense_Mutation_p.R137S	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	187							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTGGGGACAGGGAGGCCCTCC	0.632000													74	57					2.73218e-42	4.04532e-42	0.048971	1	0
CCDC8	83987	broad.mit.edu	37	19	46915351	46915351	+	Silent	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:46915351C>G	ENST00000307522.3	-	1	1490	c.717G>C	c.(715-717)gcG>gcC	p.A239A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	239						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCCCTCTGGCGCCGATGATA	0.701000													9	17					0	0	0.008291	0	0
FER1L6	654463	broad.mit.edu	37	8	125131084	125131084	+	Splice_Site	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:125131084G>A	ENST00000522917.1	+	40	5495		c.e40-1		FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)							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)			TCTTTTTGCAGGGCAAGGTTG	0.473000													14	59					0	0	0.028581	0	0
ABAT	18	broad.mit.edu	37	16	8870281	8870281	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:8870281G>T	ENST00000396600.2	+	14	2141	c.1203G>T	c.(1201-1203)cgG>cgT	p.R401R	ABAT_ENST00000567812.1_Silent_p.R416R|ABAT_ENST00000425191.2_Silent_p.R401R|ABAT_ENST00000268251.8_Silent_p.R401R|ABAT_ENST00000569156.1_Silent_p.R401R	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	401					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TCATCAAGCGGGAGGACCTGC	0.617000													10	53					6.40141e-05	6.98668e-05	0.010729	1	0
ATF2	1386	broad.mit.edu	37	2	175983098	175983098	+	Splice_Site	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:175983098C>A	ENST00000264110.2	-	6	498		c.e6-1		ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000487334.2_Splice_Site|ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000409635.1_Splice_Site|ATF2_ENST00000345739.5_Splice_Site	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			GGGGTCTGATCTGAAATAAAT	0.338000													18	76					1.02788e-11	1.2585e-11	0.033300	1	0
NLRP14	338323	broad.mit.edu	37	11	7063910	7063910	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:7063910G>T	ENST00000299481.4	+	4	999	c.653G>T	c.(652-654)gGg>gTg	p.G218V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	218	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCTCAATGGGAGAGAAATT	0.448000													70	189					2.81305e-35	4.11718e-35	0.048971	1	0
SPG7	6687	broad.mit.edu	37	16	89611153	89611153	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:89611153C>T	ENST00000268704.2	+	10	1437	c.1422C>T	c.(1420-1422)caC>caT	p.H474H		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	474					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGGACCGGCACGTCTTCATTG	0.627000													4	44					0	0	0.014758	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496749	20496749	+	RNA	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:20496749G>A	ENST00000555186.1	+	0	802					NR_038836.1																						TCTTTTCTTTGAGTCTGTTTT	0.383000													3	7					0	0	0.009096	0	0
FIBP	9158	broad.mit.edu	37	11	65655166	65655166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:65655166C>A	ENST00000338369.2	-	3	428	c.316G>T	c.(316-318)Gag>Tag	p.E106*	FIBP_ENST00000533045.1_Nonsense_Mutation_p.E103*|FIBP_ENST00000357519.4_Nonsense_Mutation_p.E106*|FIBP_ENST00000426652.2_5'UTR	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	106					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CCCAGCACCTCCCGAACAAAG	0.532000													16	109					5.01169e-05	5.5172e-05	0.033300	1	0
ETAA1	54465	broad.mit.edu	37	2	67632270	67632270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:67632270C>A	ENST00000272342.5	+	5	2586	c.2456C>A	c.(2455-2457)tCa>tAa	p.S819*	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	819						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GTTGGATTTTCAAAGTTTACA	0.323000													23	53					7.87624e-14	9.99577e-14	0.016522	1	0
ADAM30	11085	broad.mit.edu	37	1	120436901	120436901	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:120436901A>T	ENST00000369400.1	-	1	2217	c.2059T>A	c.(2059-2061)Tgg>Agg	p.W687R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	687					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GACACAACCCAAATTGACGAG	0.468000													38	98					0	0	0.023175	0	0
PHF14	9678	broad.mit.edu	37	7	11022706	11022706	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:11022706A>T	ENST00000403050.3	+	3	1272	c.820A>T	c.(820-822)Aaa>Taa	p.K274*	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	274							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GAAGAAGAGTAAAGTTCTTAG	0.438000													13	39					0	0	0.013537	0	0
MYEOV	26579	broad.mit.edu	37	11	69063509	69063509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:69063509C>T	ENST00000535407.1	+	2	1061	c.418C>T	c.(418-420)Cga>Tga	p.R140*	MYEOV_ENST00000441339.2_Nonsense_Mutation_p.R198*|MYEOV_ENST00000308946.3_Nonsense_Mutation_p.R198*			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	198										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TATGTGGGCGCGAATGGATGT	0.612000													23	45					0	0	0.027356	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885129	88885129	+	Silent	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:88885129G>C	ENST00000319675.3	-	1	1167	c.1071C>G	c.(1069-1071)ccC>ccG	p.P357P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	357										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCTCCGAGGCGGGGTATGGGG	0.617000													25	63					0	0	0.030593	0	0
LRP1B	53353	broad.mit.edu	37	2	141115623	141115623	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:141115623A>T	ENST00000389484.3	-	74	12291	c.11320T>A	c.(11320-11322)Tgc>Agc	p.C3774S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3774	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGGGATGCATTTTTTATTA	0.388000										TSP Lung(27;0.18)			89	304					0	0	0.048971	0	0
ADAT2	134637	broad.mit.edu	37	6	143754990	143754990	+	Silent	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:143754990A>G	ENST00000606514.1	-	3	773	c.189T>C	c.(187-189)tgT>tgC	p.C63C	ADAT2_ENST00000237283.8_Silent_p.C110C			Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	110					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		GAGCAGCTGCACACATAATGC	0.473000													11	78					0	0	0.008291	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909720	32909720	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:32909720C>T	ENST00000304056.4	-	4	1808	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370								p.R370H(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGGCTTTATGCGGACAAAAAG	0.428000													4	150					0	0	0.029380	0	0
GP2	2813	broad.mit.edu	37	16	20322604	20322604	+	Splice_Site	SNP	C	C	A	rs35027086		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:20322604C>A	ENST00000302555.5	-	11	1696		c.e11-1		GP2_ENST00000381360.5_Splice_Site|GP2_ENST00000381362.4_Splice_Site|GP2_ENST00000341642.5_Splice_Site			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)							anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACCAGGAACCCTGAAATACAA	0.502000													79	309					5.02053e-37	7.37632e-37	0.048971	1	0
BAI3	577	broad.mit.edu	37	6	70071037	70071037	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:70071037G>T	ENST00000370598.1	+	29	4693	c.3872G>T	c.(3871-3873)gGg>gTg	p.G1291V	BAI3_ENST00000546190.1_Missense_Mutation_p.G255V|BAI3_ENST00000238918.8_Missense_Mutation_p.G497V	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1291					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTTGAGAGGGGCTGACATG	0.383000													33	156					1.836e-18	2.42683e-18	0.064281	1	0
NCAM2	4685	broad.mit.edu	37	21	22881186	22881186	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr21:22881186G>T	ENST00000400546.1	+	16	2341	c.2092G>T	c.(2092-2094)Ggt>Tgt	p.G698C	NCAM2_ENST00000284894.7_Missense_Mutation_p.G556C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	698					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.G698C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTGTTTAATGGTCTTGGGCT	0.333000													24	111					1.96895e-08	2.30717e-08	0.016522	1	0
RPS6KA2	6196	broad.mit.edu	37	6	166833431	166833431	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:166833431C>A	ENST00000510118.1	-	20	2174	c.1834G>T	c.(1834-1836)Ggc>Tgc	p.G612C	RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G498C|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G498C|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.G587C|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G595C			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	587	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|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCATCATAGCCTTGACGCTTC	0.557000													5	35					0.00198382	0.00208765	0.029380	1	0
CACNB2	783	broad.mit.edu	37	10	18690929	18690929	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:18690929G>T	ENST00000396576.2	+	2	626	c.125G>T	c.(124-126)aGa>aTa	p.R42I	CACNB2_ENST00000377328.1_Missense_Mutation_p.R97I|CACNB2_ENST00000324631.7_Missense_Mutation_p.R97I|CACNB2_ENST00000282343.8_Missense_Mutation_p.R69I|CACNB2_ENST00000377315.4_Missense_Mutation_p.R49I|CACNB2_ENST00000352115.6_Missense_Mutation_p.R97I|CACNB2_ENST00000377319.3_Missense_Mutation_p.R42I|CACNB2_ENST00000377331.2_Missense_Mutation_p.R69I|CACNB2_ENST00000377329.4_Missense_Mutation_p.R43I	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	97					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGTGCGCAGAGAAGCGGAG	0.532000													17	84					1.77063e-15	2.28507e-15	0.027356	1	0
NPY	4852	broad.mit.edu	37	7	24329140	24329140	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:24329140G>A	ENST00000407573.1	+	4	501	c.211G>A	c.(211-213)Gag>Aag	p.E71K	NPY_ENST00000405982.1_Missense_Mutation_p.E71K|NPY_ENST00000242152.2_Missense_Mutation_p.E71K			P01303	NPY_HUMAN	neuropeptide Y	71					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ATCCAGCCCAGAGACACTGAT	0.398000													10	176					0	0	0.008291	0	0
SEMA7A	8482	broad.mit.edu	37	15	74706948	74706948	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:74706948C>T	ENST00000261918.4	-	10	1782	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T	SEMA7A_ENST00000542748.1_Missense_Mutation_p.A247T|SEMA7A_ENST00000543145.2_Missense_Mutation_p.A398T	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	412	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CGGTGGACGGCCACTTTCTGG	0.572000													3	51					0	0	0.004672	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732063	37732063	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:37732063C>T	ENST00000330843.4	-	3	1604	c.1592G>A	c.(1591-1593)aGg>aAg	p.R531K	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.R383K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.R383K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.R531K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	531					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGGGGAGCCCTCGGAGAGGA	0.547000													94	233					0	0	0.048971	0	0
APOBR	55911	broad.mit.edu	37	16	28508141	28508141	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr16:28508141G>A	ENST00000564831.1	+	2	1812	c.1779G>A	c.(1777-1779)ctG>ctA	p.L593L	APOBR_ENST00000328423.5_Silent_p.L584L|APOBR_ENST00000431282.1_Silent_p.L584L	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	584	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TTCTGGCCCTGAGCAAAGAGG	0.647000													4	8					0	0	0.009096	0	0
COL4A3	1285	broad.mit.edu	37	2	228137670	228137670	+	Silent	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:228137670G>C	ENST00000396578.3	+	26	1926	c.1764G>C	c.(1762-1764)ctG>ctC	p.L588L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	588	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CACAGGCTCTGAGTGGTGAGA	0.527000													12	62					0	0	0.020292	0	0
CLDN1	9076	broad.mit.edu	37	3	190026067	190026067	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:190026067C>T	ENST00000295522.3	-	4	903	c.635G>A	c.(634-636)tGa>tAa	p.*212*		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	0					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GCCTCTGTGTCACACGTAGTC	0.433000													10	432					0	0	0.058154	0	0
PEG3	5178	broad.mit.edu	37	19	57334976	57334976	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:57334976A>G	ENST00000326441.9	-	5	829	c.466T>C	c.(466-468)Tca>Cca	p.S156P	ZIM2_ENST00000593711.1_Missense_Mutation_p.S30P|ZIM2_ENST00000601070.1_Missense_Mutation_p.S30P|ZIM2_ENST00000599935.1_Missense_Mutation_p.S30P|PEG3_ENST00000598410.1_Missense_Mutation_p.S30P|ZIM2_ENST00000593931.1_Missense_Mutation_p.S30P|PEG3_ENST00000593695.1_Missense_Mutation_p.S30P|PEG3_ENST00000423103.2_Missense_Mutation_p.S156P|ZIM2_ENST00000221722.5_Missense_Mutation_p.S30P|ZIM2_ENST00000391708.3_Missense_Mutation_p.S30P	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	156					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAATGGACTGAGTGAGGTGGT	0.572000													36	94					0	0	0.036044	0	0
ZNF772	400720	broad.mit.edu	37	19	57985130	57985130	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:57985130C>A	ENST00000343280.4	-	5	1242	c.982G>T	c.(982-984)Ggg>Tgg	p.G328W	AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.G287W|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.G216W|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000601768.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		AAAACTTTCCCACATATGCCA	0.443000													57	173					3.84483e-29	5.43973e-29	0.048971	1	0
ARID5B	84159	broad.mit.edu	37	10	63852789	63852789	+	Nonstop_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:63852789G>C	ENST00000279873.7	+	10	3977	c.3567G>C	c.(3565-3567)taG>taC	p.*1189Y	ARID5B_ENST00000309334.5_Nonstop_Mutation_p.*946Y	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	0					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAAACTGTAGGCTCAGCTCT	0.483000													31	123					0	0	0.064281	0	0
NEFH	4744	broad.mit.edu	37	22	29885561	29885561	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr22:29885561G>A	ENST00000310624.6	+	4	1965	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	644	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAACGAAGGAGGAAGCAAAGT	0.562000													3	36					0	0	0.004672	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16528322	16528322	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:16528322G>C	ENST00000270747.3	-	14	2237	c.2101C>G	c.(2101-2103)Ccc>Gcc	p.P701A	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	701	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTGGAGGGGCACAAGGCT	0.592000													6	56					0	0	0.021553	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139061	178139061	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:178139061C>T	ENST00000335815.2	-	5	2015	c.1818G>A	c.(1816-1818)taG>taA	p.*606*		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	0					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AATCTACTTTCTAGGGGTCCT	0.348000													25	52					0	0	0.030593	0	0
FAT4	79633	broad.mit.edu	37	4	126384717	126384717	+	Splice_Site	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:126384717G>T	ENST00000394329.3	+	10	11807		c.e10-1		FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATATATTTTAGGGAAAATGTG	0.333000													6	12					0.00116845	0.0012433	0.021553	1	0
OPRK1	4986	broad.mit.edu	37	8	54142126	54142126	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:54142126T>C	ENST00000265572.3	-	4	1171	c.874A>G	c.(874-876)Ata>Gta	p.I292V	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.I203V|OPRK1_ENST00000520287.1_Missense_Mutation_p.I292V	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	292					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGGATGAATATGTGAATGGGA	0.557000													18	62					0	0	0.049695	0	0
C11orf63	79864	broad.mit.edu	37	11	122830081	122830081	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:122830081G>T	ENST00000227349.2	+	9	2562	c.2265G>T	c.(2263-2265)ctG>ctT	p.L755L	C11orf63_ENST00000531316.1_Silent_p.L755L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	755										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCTCACTGCTGGAAATACTGC	0.408000													30	130					1.74807e-11	2.12663e-11	0.045705	1	0
PCDH7	5099	broad.mit.edu	37	4	30726073	30726073	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:30726073A>T	ENST00000361762.2	+	1	4037	c.3029A>T	c.(3028-3030)cAg>cTg	p.Q1010L	PCDH7_ENST00000543491.1_Missense_Mutation_p.Q1010L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1010					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTTCATCCCCAGTCACCAACT	0.507000													5	46					0	0	0.021553	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	118					0	0	0.010729	0	0
SLC17A2	10246	broad.mit.edu	37	6	25914897	25914897	+	Splice_Site	SNP	A	A	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:25914897A>G	ENST00000377850.3	-	11	1737	c.1211_splice	c.e11-1	p.Y405_splice	SLC17A2_ENST00000360488.3_Splice_Site_p.D355_splice|SLC17A2_ENST00000265425.3_Splice_Site_p.Y405_splice			O00624	NPT3_HUMAN	solute carrier family 17, member 2	405					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAACTTGCATATCTGTGGGAA	0.433000													19	33					0	0	0.043863	0	0
PHKA1	5255	broad.mit.edu	37	X	71838619	71838619	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:71838619C>T	ENST00000373545.3	-	20	2571	c.2133G>A	c.(2131-2133)ttG>ttA	p.L711L	PHKA1_ENST00000541944.1_Silent_p.L711L|PHKA1_ENST00000373542.4_Silent_p.L770L|PHKA1_ENST00000339490.3_Silent_p.L770L|PHKA1_ENST00000373539.3_Silent_p.L770L			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	770					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGTCTCCTTCAACTGTAAAA	0.383000													108	333					0	0	0.048971	0	0
COX7A2	1347	broad.mit.edu	37	6	75953524	75953524	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:75953524A>C	ENST00000370081.2	-	2	333	c.23T>G	c.(22-24)gTa>gGa	p.V8G	COX7A2_ENST00000370089.2_Missense_Mutation_p.V8G|COX7A2_ENST00000230459.4_5'UTR			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						AACCGGAACTACCTCCGAGTC	0.532000													6	120					0	0	0.013537	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044554	75044554	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:75044554C>A	ENST00000343932.4	+	5	1195	c.1132C>A	c.(1132-1134)Cac>Aac	p.H378N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	378					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GACCTTCCGACACTCCTCCTT	0.597000													24	385					4.26978e-12	5.24455e-12	0.018920	1	0
MFSD8	256471	broad.mit.edu	37	4	128854198	128854198	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:128854198C>G	ENST00000296468.3	-	9	932	c.805G>C	c.(805-807)Gtt>Ctt	p.V269L	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.V224L|MFSD8_ENST00000541133.1_Silent_p.L175L	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	269					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ATGGCCACAACAGCAACCTGG	0.338000													13	120					0	0	0.028581	0	0
RGS22	26166	broad.mit.edu	37	8	101076251	101076251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:101076251C>A	ENST00000360863.6	-	8	939	c.745G>T	c.(745-747)Gga>Tga	p.G249*	RGS22_ENST00000523437.1_Nonsense_Mutation_p.G237*|RGS22_ENST00000523287.1_Nonsense_Mutation_p.G68*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	249					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GGGTGAACTCCATCATCAAAG	0.318000													104	517					4.08981e-53	6.1267e-53	0.048971	1	0
RARG	5916	broad.mit.edu	37	12	53609510	53609510	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:53609510G>A	ENST00000425354.2	-	4	740	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	RARG_ENST00000543762.1_Intron|RARG_ENST00000543726.1_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.R85W|RARG_ENST00000338561.5_Missense_Mutation_p.R74W|RARG_ENST00000327550.3_Missense_Mutation_p.R13W	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	85	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TTGTAGACCCGAGGAGGCGGA	0.612000													9	153					0	0	0.058154	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141711	64141711	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:64141711C>A	ENST00000545618.1	-	3	759	c.196G>T	c.(196-198)Gct>Tct	p.A66S	ZC4H2_ENST00000447788.2_Missense_Mutation_p.A71S|ZC4H2_ENST00000374839.3_Missense_Mutation_p.A71S|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.A48S			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	71							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTGATGTCAGCGTGGATCAGT	0.502000													19	22					8.10497e-08	9.43933e-08	0.055883	1	0
GNPTAB	79158	broad.mit.edu	37	12	102153823	102153823	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:102153823G>C	ENST00000299314.7	-	16	3496	c.3234C>G	c.(3232-3234)taC>taG	p.Y1078*		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1078					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGATCATAGTAGGATTCCT	0.383000													57	172					0	0	0.048971	0	0
MYOT	9499	broad.mit.edu	37	5	137211571	137211571	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:137211571C>A	ENST00000239926.4	+	3	784	c.410C>A	c.(409-411)gCa>gAa	p.A137E	MYOT_ENST00000515645.1_Missense_Mutation_p.A22E|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000421631.2_5'UTR	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	137	Necessary for interaction with ACTN1.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCCCAAACTGCAAATGCTAAG	0.383000													5	113					5.4927e-09	6.49601e-09	0.047766	1	0
LYZL2	119180	broad.mit.edu	37	10	30915723	30915723	+	Missense_Mutation	SNP	C	C	A	rs34960572		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr10:30915723C>A	ENST00000375318.2	-	2	316	c.260G>T	c.(259-261)gGc>gTc	p.G87V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	41					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				AAGGCTGAAGCCCCAGTAATT	0.507000													24	207					9.65021e-13	1.18915e-12	0.045705	1	0
EIF3F	8665	broad.mit.edu	37	11	8008941	8008941	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:8008941G>A	ENST00000533626.1	+	3	668	c.42G>A	c.(40-42)acG>acA	p.T14T	EIF3F_ENST00000309828.4_Silent_p.T14T|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000537635.1_Silent_p.T29T			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	14						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCGGCCACGccaaccccag	0.647000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	85					0	0	0.009096	0	0
SLC6A5	9152	broad.mit.edu	37	11	20639405	20639405	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:20639405C>A	ENST00000525748.1	+	7	1508	c.1235C>A	c.(1234-1236)gCt>gAt	p.A412D		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	412					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCATCATTGGCTAAAGGAATC	0.498000													19	268					3.5997e-14	4.58362e-14	0.014323	1	0
ZNF831	128611	broad.mit.edu	37	20	57769519	57769519	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr20:57769519G>C	ENST00000371030.2	+	1	3445	c.3445G>C	c.(3445-3447)Gag>Cag	p.E1149Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1149						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)					AGGCTGGCCAGAGCTGGCCTT	0.687000													17	71					0	0	0.033300	0	0
C4orf17	84103	broad.mit.edu	37	4	100458828	100458828	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:100458828C>A	ENST00000514652.1	+	6	903	c.549C>A	c.(547-549)atC>atA	p.I183I	C4orf17_ENST00000326581.4_Silent_p.I183I			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	183										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TCTGTCAGATCCTGGCAAAGC	0.373000													12	206					5.16669e-11	6.2261e-11	0.010729	1	0
DRD3	1814	broad.mit.edu	37	3	113890711	113890711	+	Silent	SNP	G	G	A	rs143953030		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:113890711G>A	ENST00000383673.2	-	2	559	c.129C>T	c.(127-129)atC>atT	p.I43I	DRD3_ENST00000460779.1_Silent_p.I43I|DRD3_ENST00000467632.1_Silent_p.I43I|DRD3_ENST00000295881.7_Silent_p.I43I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	43					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGCCGAAGACGATGGCCAGGA	0.607000													6	35					0	0	0.047766	0	0
FAM199X	139231	broad.mit.edu	37	X	103411551	103411551	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:103411551G>C	ENST00000493442.1	+	1	251	c.85G>C	c.(85-87)Ggg>Cgg	p.G29R		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	29										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						ACCTCCTCGCGGGGTGGGCAC	0.667000													11	12					0	0	0.008291	0	0
AMPD1	270	broad.mit.edu	37	1	115220124	115220124	+	Silent	SNP	C	C	T	rs141829342		TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:115220124C>T	ENST00000369538.3	-	9	1370	c.1323G>A	c.(1321-1323)gcG>gcA	p.A441A	AMPD1_ENST00000353928.6_Silent_p.A412A|AMPD1_ENST00000520113.2_Silent_p.A445A	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	412					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.A445A(1)|p.A412A(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CCACCAGGTCCGCACCTACCT	0.567000													16	24					0	0	0.024245	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762764	140762764	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:140762764G>A	ENST00000518325.1	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCAGAGTGCGCGGTGTCT	0.483000													19	34					0	0	0.038395	0	0
TSSK3	81629	broad.mit.edu	37	1	32829703	32829703	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:32829703T>C	ENST00000373534.3	+	2	1158	c.653T>C	c.(652-654)aTg>aCg	p.M218T	FAM229A_ENST00000415596.1_5'UTR	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	218	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ATCCCCAAGATGCTGTGGCAG	0.557000													58	165					0	0	0.048971	0	0
SCAPER	49855	broad.mit.edu	37	15	77087752	77087752	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:77087752C>T	ENST00000563290.1	-	8	736	c.641G>A	c.(640-642)cGt>cAt	p.R214H	SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000562890.1_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.R214H			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	213						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGGAGCCAGACGAGGAGCTGG	0.418000													12	92					0	0	0.013537	0	0
OR8B4	283162	broad.mit.edu	37	11	124294723	124294723	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:124294723C>A	ENST00000356130.3	-	1	66	c.45G>T	c.(43-45)gtG>gtT	p.V15V		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTGATAATCCCACAAGGATAA	0.478000													22	107					6.44725e-10	7.72053e-10	0.014323	1	0
XRCC1	7515	broad.mit.edu	37	19	44047545	44047545	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:44047545C>T	ENST00000262887.5	-	17	2448	c.1901G>A	c.(1900-1902)tGa>tAa	p.*634*	XRCC1_ENST00000543982.1_Silent_p.*603*			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	0					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCACATACTTCAGGCTTGCGG	0.483000								Other BER factors					8	48					0	0	0.038147	0	0
SETBP1	26040	broad.mit.edu	37	18	42643638	42643638	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr18:42643638G>A	ENST00000282030.5	+	6	5062	c.4766G>A	c.(4765-4767)gGg>gAg	p.G1589E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1589						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGTCCCGAGGGAGTGAGAGC	0.692000									Schinzel-Giedion syndrome				7	14					0	0	0.047766	0	0
PLK4	10733	broad.mit.edu	37	4	128815036	128815036	+	Splice_Site	SNP	T	T	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:128815036T>A	ENST00000270861.5	+	13	2836	c.2562_splice	c.e13+1	p.S854_splice	PLK4_ENST00000515069.1_Splice_Site_p.S776_splice|PLK4_ENST00000514379.1_Splice_Site_p.S813_splice|PLK4_ENST00000513090.1_Splice_Site_p.S822_splice|PLK4_ENST00000507249.1_Splice_Site_p.S793_splice	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	854					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ttaatccctctgtaagtaaat	0.388000													18	54					0	0	0.033300	0	0
ITM2A	9452	broad.mit.edu	37	X	78618510	78618510	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chrX:78618510C>T	ENST00000434584.2	-	2	574	c.238G>A	c.(238-240)Gca>Aca	p.A80T	ITM2A_ENST00000373298.2_Missense_Mutation_p.A124T|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	124						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCAATGATTGCAATGTTGTCA	0.443000													46	53					0	0	0.048971	0	0
CLIP1	6249	broad.mit.edu	37	12	122862099	122862099	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:122862099G>C	ENST00000358808.2	-	3	648	c.494C>G	c.(493-495)tCa>tGa	p.S165*	CLIP1_ENST00000302528.7_Nonsense_Mutation_p.S165*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.S165*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.S165*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.S165*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	165	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AGGGATGTTTGAAGGGGTGGA	0.547000													26	195					0	0	0.030593	0	0
SLC23A2	9962	broad.mit.edu	37	20	4855301	4855301	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr20:4855301T>G	ENST00000379333.1	-	10	1258	c.866A>C	c.(865-867)aAt>aCt	p.N289T	SLC23A2_ENST00000424750.2_Missense_Mutation_p.N175T|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.N289T	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	289					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAATTTAACATTTCTGGCGTA	0.368000													120	179					0	0	0.048971	0	0
CCDC136	64753	broad.mit.edu	37	7	128444758	128444758	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:128444758C>T	ENST00000297788.4	+	5	1092	c.725C>T	c.(724-726)gCc>gTc	p.A242V	CCDC136_ENST00000464832.1_Missense_Mutation_p.A292V|CCDC136_ENST00000378685.4_Missense_Mutation_p.A280V|CCDC136_ENST00000487361.1_Missense_Mutation_p.A242V	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	242	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAATACCGGGCCCTGCAGGAG	0.572000													4	5					0	0	0.014758	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439759	150439759	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:150439759C>A	ENST00000358647.3	+	3	899	c.532C>A	c.(532-534)Cgg>Agg	p.R178R	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCTGGTGCGGGAGTGTGA	0.572000													95	317					5.77035e-48	8.57693e-48	0.048971	1	0
ITGA6	3655	broad.mit.edu	37	2	173344449	173344449	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:173344449G>A	ENST00000375221.2	+	11	1789	c.1586G>A	c.(1585-1587)gGg>gAg	p.G529E	ITGA6_ENST00000409532.1_Missense_Mutation_p.G371E|ITGA6_ENST00000264107.7_Missense_Mutation_p.G490E|ITGA6_ENST00000264106.6_Missense_Mutation_p.G529E|ITGA6_ENST00000409080.1_Missense_Mutation_p.G490E|ITGA6_ENST00000343713.4_Missense_Mutation_p.G485E			P23229	ITA6_HUMAN	integrin, alpha 6	529					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACAGCGTGTGGGGCGCCTAGT	0.502000													15	329					0	0	0.024245	0	0
SYT3	84258	broad.mit.edu	37	19	51128456	51128456	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:51128456G>A	ENST00000338916.4	-	7	2303	c.1670C>T	c.(1669-1671)cCc>cTc	p.P557L	SYT3_ENST00000600079.1_Missense_Mutation_p.P557L|SYT3_ENST00000593901.1_Missense_Mutation_p.P557L|SYT3_ENST00000544769.1_Missense_Mutation_p.P557L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	557						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCTTGCGGGGATTGGCCAG	0.682000													4	11					0	0	0.009096	0	0
GHSR	2693	broad.mit.edu	37	3	172166187	172166187	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:172166187G>C	ENST00000241256.2	-	1	59	c.17C>G	c.(16-18)cCc>cGc	p.P6R	GHSR_ENST00000427970.1_Missense_Mutation_p.P6R	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	6					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTCTTCGCTGGGCGTCGCGTT	0.677000													6	13					0	0	0.038147	0	0
AIM1	202	broad.mit.edu	37	6	106992498	106992498	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:106992498G>A	ENST00000369066.3	+	10	4355	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	AIM1_ENST00000535438.1_Missense_Mutation_p.E109K|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1290	Beta/gamma crystallin 'Greek key' 6.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTGCTAGAAGAAGGAGAATA	0.423000													9	250					0	0	0.049695	0	0
OR10G9	219870	broad.mit.edu	37	11	123894265	123894265	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:123894265C>A	ENST00000375024.1	+	1	546	c.546C>A	c.(544-546)ccC>ccA	p.P182P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATGCACCGCCCATCCTGAAAC	0.532000													62	431					3.80207e-26	5.33968e-26	0.048971	1	0
SEMA3D	223117	broad.mit.edu	37	7	84651816	84651816	+	Silent	SNP	T	T	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:84651816T>A	ENST00000284136.6	-	11	1348	c.1305A>T	c.(1303-1305)gcA>gcT	p.A435A	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	435	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTGGTCCTCCTGCAACTGGGT	0.443000													116	378					0	0	0.048971	0	0
TAF1L	138474	broad.mit.edu	37	9	32633772	32633772	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr9:32633772G>T	ENST00000242310.4	-	1	1895	c.1806C>A	c.(1804-1806)acC>acA	p.T602T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	602					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCTCCAAAGGTGCCCCGAA	0.483000													64	391					1.02487e-32	1.47736e-32	0.048971	1	0
GNAS	2778	broad.mit.edu	37	20	57415311	57415311	+	Silent	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr20:57415311C>T	ENST00000313949.7	+	1	539	c.150C>T	c.(148-150)gcC>gcT	p.A50A	GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.A50A|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.A50A			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTCCAACGCCCGTGCCCAGC	0.706000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	34					0	0	0.058154	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127642	32127642	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr21:32127642C>G	ENST00000335093.3	-	1	104	c.55G>C	c.(55-57)Ggc>Cgc	p.G19R		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	19						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						gagccatagccacagccacag	0.527000													62	186					0	0	0.048971	0	0
SBSN	374897	broad.mit.edu	37	19	36017586	36017586	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:36017586C>T	ENST00000452271.2	-	1	1626	c.1598G>A	c.(1597-1599)gGg>gAg	p.G533E	SBSN_ENST00000518157.1_Missense_Mutation_p.G190E	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	190						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTGGTTGACCCCATTATGAGC	0.592000													28	61					0	0	0.030593	0	0
EIF4G3	8672	broad.mit.edu	37	1	21187009	21187009	+	Splice_Site	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:21187009C>A	ENST00000602326.1	-	22	3546	c.2961_splice	c.e22-1	p.C988_splice	EIF4G3_ENST00000536266.1_Splice_Site_p.C586_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.C982_splice|EIF4G3_ENST00000537738.1_Splice_Site_p.C472_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.C982_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.C702_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.C988_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	982	eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TACCCAATTGCACTATAAAAG	0.333000													21	65					4.35082e-09	5.16153e-09	0.055883	1	0
LST3	0	broad.mit.edu	37	12	21242932	21242932	+	Silent	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:21242932T>C	ENST00000540229.1	+	16	2204	c.2139T>C	c.(2137-2139)caT>caC	p.H713H	SLCO1B3_ENST00000553473.1_Silent_p.H713H|LST3_ENST00000381541.3_Silent_p.H652H|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.H605H|SLCO1B7_ENST00000554957.1_Silent_p.H652H																							AAAAATCCCATGGAAAGGATA	0.343000													17	96					0	0	0.033300	0	0
L2HGDH	79944	broad.mit.edu	37	14	50760887	50760887	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:50760887C>A	ENST00000267436.4	-	4	883	c.486G>T	c.(484-486)ccG>ccT	p.P162P	L2HGDH_ENST00000555423.1_Silent_p.P162P|L2HGDH_ENST00000421284.3_Silent_p.P162P|L2HGDH_ENST00000261699.4_Silent_p.P162P|L2HGDH_ENST00000555610.1_Silent_p.P162P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	162					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GCCTCAGGCCCGGGACACCAT	0.418000													40	68					4.07013e-28	5.73723e-28	0.033182	1	0
KCNH2	3757	broad.mit.edu	37	7	150646032	150646032	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:150646032C>A	ENST00000392968.2	-	8	3336	c.2216G>T	c.(2215-2217)cGg>cTg	p.R739L	KCNH2_ENST00000330883.4_Missense_Mutation_p.R495L|KCNH2_ENST00000262186.5_Missense_Mutation_p.R835L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	835					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGGTCGTCCCGATGGATCTT	0.567000													20	55					5.26018e-13	6.52399e-13	0.062417	1	0
ZNF91	7644	broad.mit.edu	37	19	23544835	23544835	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:23544835G>C	ENST00000300619.7	-	4	1151	c.946C>G	c.(946-948)Cat>Gat	p.H316D	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H284D	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TCTCCAGTATGAATTCTCTTA	0.393000													46	122					0	0	0.048971	0	0
DCHS2	54798	broad.mit.edu	37	4	155287361	155287361	+	Splice_Site	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:155287361C>A	ENST00000357232.3	-	5	694		c.e5+1		DCHS2_ENST00000339452.1_Splice_Site	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGATCACATACCTGTGGTGGA	0.403000													6	72					5.18039e-06	5.82032e-06	0.038147	1	0
TRAV19	28664	broad.mit.edu	37	14	22476212	22476212	+	RNA	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:22476212C>A	ENST00000390447.3	+	0	259																											GTATGAAACCCGTGATACTAC	0.418000													26	45					9.86323e-18	1.29923e-17	0.021523	1	0
NLRP7	199713	broad.mit.edu	37	19	55449547	55449547	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:55449547G>T	ENST00000446217.1	-	7	2480	c.2078C>A	c.(2077-2079)aCa>aAa	p.T693K	NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000340844.2_Missense_Mutation_p.T665K|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000588756.1_Missense_Mutation_p.T665K|NLRP7_ENST00000592784.1_Missense_Mutation_p.T665K|NLRP7_ENST00000590030.1_Missense_Mutation_p.T665K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	665			R -> P (in HYDM).|R -> Q (in HYDM).|R -> W (in HYDM).				ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCAGAAATCTGTCCAGAGGCG	0.493000													9	239					3.09899e-07	3.55499e-07	0.047766	1	0
MS4A6A	64231	broad.mit.edu	37	11	59949104	59949104	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:59949104C>A	ENST00000528851.1	-	2	237	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	MS4A6A_ENST00000412309.2_Missense_Mutation_p.G61W|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G33W|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G33W|MS4A6A_ENST00000530839.1_Missense_Mutation_p.G33W|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G33W|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G33W|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G61W|MS4A6A_ENST00000532169.1_Missense_Mutation_p.G33W			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	33						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTATCCTGCCCCTGGTTGGTG	0.473000													78	222					7.47877e-49	1.11597e-48	0.048971	1	0
MYO1D	4642	broad.mit.edu	37	17	31094726	31094726	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:31094726G>A	ENST00000318217.5	-	7	1063	c.759C>T	c.(757-759)gcC>gcT	p.A253A	MYO1D_ENST00000394649.4_Silent_p.A165A|MYO1D_ENST00000583621.1_Silent_p.A253A|MYO1D_ENST00000579584.1_Silent_p.A253A	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	253	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TGACTTTCATGGCATCAGCAA	0.393000													28	284					0	0	0.041601	0	0
SYNE1	23345	broad.mit.edu	37	6	152651646	152651646	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:152651646C>T	ENST00000367255.5	-	78	14775	c.14174G>A	c.(14173-14175)gGc>gAc	p.G4725D	SYNE1_ENST00000265368.4_Missense_Mutation_p.G4725D|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4654D|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4654D|SYNE1_ENST00000341594.5_Missense_Mutation_p.G4472D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4725					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCCCAAGGCCCGCCACCTC	0.552000										HNSCC(10;0.0054)			140	71					0	0	0.048971	0	0
C1orf173	127254	broad.mit.edu	37	1	75107014	75107014	+	Splice_Site	SNP	C	C	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:75107014C>T	ENST00000326665.5	-	5	663		c.e5+1			NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173											NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATATTACTCACCAGTGCTAAC	0.438000													125	423					0	0	0.048971	0	0
MIR522	574495	broad.mit.edu	37	19	54254543	54254543	+	RNA	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:54254543G>T	ENST00000385071.1	+	0	79					NR_030217.1																						AGAGTGTTACGCTTTGAGAAA	0.418000													6	68					8.12818e-05	8.77109e-05	0.029380	1	0
PROS1	5627	broad.mit.edu	37	3	93617304	93617304	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:93617304C>A	ENST00000394236.3	-	8	1153	c.837G>T	c.(835-837)caG>caT	p.Q279H	PROS1_ENST00000407433.1_Missense_Mutation_p.Q148H	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	279	EGF-like 4; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CACAACTCTTCTGATCTTGGG	0.378000													11	89					6.40141e-05	6.98668e-05	0.010729	1	0
CADPS2	93664	broad.mit.edu	37	7	122303304	122303304	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:122303304T>C	ENST00000334010.7	-	3	1194	c.773A>G	c.(772-774)tAt>tGt	p.Y258C	CADPS2_ENST00000313070.7_Missense_Mutation_p.Y258C|CADPS2_ENST00000412584.2_Missense_Mutation_p.Y258C|CADPS2_ENST00000449022.2_Missense_Mutation_p.Y258C	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	258					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACATGCATTATAAAGGAGCTG	0.408000													16	53					0	0	0.024245	0	0
CCT6A	908	broad.mit.edu	37	7	56129515	56129515	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr7:56129515C>G	ENST00000275603.4	+	12	1642	c.1423C>G	c.(1423-1425)Cag>Gag	p.Q475E	CCT6A_ENST00000335503.3_Missense_Mutation_p.Q430E|CCT6A_ENST00000540286.1_Missense_Mutation_p.Q444E|CCT6A_ENST00000462133.1_3'UTR	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	475					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGAATCAGGTCAGCTTGTGGG	0.378000													7	23					0	0	0.058154	0	0
BBS7	55212	broad.mit.edu	37	4	122780265	122780265	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:122780265T>C	ENST00000264499.4	-	5	593	c.410A>G	c.(409-411)gAc>gGc	p.D137G	BBS7_ENST00000506636.1_Missense_Mutation_p.D137G	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	137					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATAATGTTGGTCTTTGCAGTC	0.378000									Bardet-Biedl syndrome				65	208					0	0	0.048971	0	0
NXNL1	115861	broad.mit.edu	37	19	17571670	17571670	+	Silent	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:17571670G>A	ENST00000301944.2	-	1	93	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	3	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CAGAGAACAGGGAGGCCATGG	0.602000													3	13					0	0	0.004672	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096894	41096894	+	Silent	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:41096894C>A	ENST00000291842.5	+	18	1954	c.1905C>A	c.(1903-1905)gcC>gcA	p.A635A	SHKBP1_ENST00000600733.1_Silent_p.A610A	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	635						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCACTCAGCCTCCAGCAACA	0.667000													4	14					0.00909568	0.00939068	0.009096	1	0
A2ML1	144568	broad.mit.edu	37	12	9013836	9013836	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:9013836G>A	ENST00000299698.7	+	28	3625	c.3445G>A	c.(3445-3447)Gaa>Aaa	p.E1149K	A2ML1_ENST00000539547.1_Missense_Mutation_p.E658K	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	993						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCTGGCTGGGGAAATGGACAT	0.458000													7	172					0	0	0.058154	0	0
OR5M9	390162	broad.mit.edu	37	11	56230199	56230199	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr11:56230199G>C	ENST00000279791.1	-	1	678	c.679C>G	c.(679-681)Cgc>Ggc	p.R227G		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCGGCAGAGCGCATGCGTAGC	0.488000													6	34					0	0	0.021553	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101225	80101225	+	Silent	SNP	G	G	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:80101225G>T	ENST00000466387.1	+	10	1333	c.609G>T	c.(607-609)cgG>cgT	p.R203R	CTNNA2_ENST00000361291.4_Silent_p.R237R|CTNNA2_ENST00000496558.1_Silent_p.R203R|CTNNA2_ENST00000540488.1_Silent_p.R203R|CTNNA2_ENST00000402739.4_Silent_p.R203R|CTNNA2_ENST00000541047.1_Silent_p.R203R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	203					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCACTGTCGGGATGAGATGG	0.507000													20	80					2.00529e-23	2.72605e-23	0.018920	1	0
DNAH8	1769	broad.mit.edu	37	6	38905910	38905910	+	Silent	SNP	C	C	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:38905910C>G	ENST00000359357.3	+	76	11327	c.11073C>G	c.(11071-11073)ctC>ctG	p.L3691L	DNAH8_ENST00000449981.2_Silent_p.L3908L|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Silent_p.L3655L					dynein, axonemal, heavy chain 8									p.L3691L(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAGCATCCTCTACTTCCTCA	0.522000													43	120					0	0	0.039052	0	0
ZNF329	79673	broad.mit.edu	37	19	58639392	58639392	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:58639392C>A	ENST00000598312.1	-	4	1712	c.1479G>T	c.(1477-1479)aaG>aaT	p.K493N	ZNF329_ENST00000358067.4_Missense_Mutation_p.K493N	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GAGAGTTCTGCTTGAAGGACT	0.522000													22	97					1.96292e-10	2.35798e-10	0.055883	1	0
PROCA1	147011	broad.mit.edu	37	17	27031178	27031178	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr17:27031178G>A	ENST00000301039.2	-	4	602	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	PROCA1_ENST00000439862.3_Missense_Mutation_p.H139Y|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000581289.1_3'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	165					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCACACTCATGGTAGAGTGGA	0.587000													35	34					0	0	0.048971	0	0
AHDC1	27245	broad.mit.edu	37	1	27876724	27876725	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:27876724_27876725insT	ENST00000374011.2	-	6	2870_2871	c.1902_1903insA	c.(1900-1905)cccccgfs	p.PP634fs	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.PP634fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	634							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CAGCAGCGGGGCGGTGAGCACC	0.673													10	68	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152325005	152325022	+	In_Frame_Del	DEL	TGGCTTGGCCATGAGTGT	TGGCTTGGCCATGAGTGT	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr1:152325005_152325022delTGGCTTGGCCATGAGTGT	ENST00000388718.5	-	3	5312_5329	c.5240_5257delACACTCATGGCCAAGCCA	c.(5239-5259)cga>c	p.HTHGQAR1747del	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1747							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTGAGATCTGGCTTGGCCATGAGTGTGTCCTGAATG	0.505													9	732	---	---	---	---					
IGKV3D-11	28876	broad.mit.edu	37	2	90211784	90211784	+	RNA	DEL	C	C	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr2:90211784delC	ENST00000390277.2	+	0	142																											TACTCTGGCTCCCAGGTGAGG	0.493													73	296	---	---	---	---					
WDR6	11180	broad.mit.edu	37	3	49049577	49049578	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:49049577_49049578insG	ENST00000395474.3	+	2	980_981	c.700_701insG	c.(700-702)aatfs	p.N234fs	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Frame_Shift_Ins_p.N153fs|WDR6_ENST00000415265.2_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	204					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCTGACCGACGAATCAGTGGG	0.525													15	36	---	---	---	---					
KALRN	8997	broad.mit.edu	37	3	124352712	124352712	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr3:124352712delG	ENST00000360013.3	+	36	5604	c.5477delG	c.(5476-5478)tgfs	p.W1826fs	KALRN_ENST00000393496.1_Frame_Shift_Del_p.W199fs|KALRN_ENST00000428018.2_Frame_Shift_Del_p.W129fs|KALRN_ENST00000291478.4_Frame_Shift_Del_p.W129fs	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1826					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAGAAAGGTTGGGGTGAAGAT	0.428													22	76	---	---	---	---					
RP11-123O22.1	0	broad.mit.edu	37	4	28541788	28541789	+	RNA	INS	-	-	TTCC	rs111687646	by1000genomes	TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr4:28541788_28541789insTTCC	ENST00000509416.1	+	0	402																											tccttccttccttctttctttc	0.347													3	4	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13714640	13714642	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:13714640_13714642delCAG	ENST00000265104.4	-	75	13101_13103	c.12997_12999delCTG	c.(12997-12999)del	p.L4333del		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4333					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGATGGTGTCCAGCACGTCCTTG	0.596									Kartagener syndrome				12	702	---	---	---	---					
C9	735	broad.mit.edu	37	5	39285304	39285304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:39285304delT	ENST00000263408.4	-	11	1772	c.1677delA	c.(1675-1677)aafs	p.K559fs		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	559					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AACAGCTCTATTTTTCATTGG	0.408													62	279	---	---	---	---					
RASA1	5921	broad.mit.edu	37	5	86682703	86682703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr5:86682703delT	ENST00000456692.2	+	23	2492	c.2377delT	c.(2377-2379)ttfs	p.F793fs	RASA1_ENST00000506290.1_Frame_Shift_Del_p.F804fs|RASA1_ENST00000512763.1_Frame_Shift_Del_p.F803fs|RASA1_ENST00000274376.6_Frame_Shift_Del_p.F970fs	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	970	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TATGATCATGTTTTTAGATGA	0.338													74	215	---	---	---	---					
HIST1H2BF	8343	broad.mit.edu	37	6	26200044	26200047	+	Frame_Shift_Del	DEL	GCGC	GCGC	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:26200044_26200047delGCGC	ENST00000359985.1	+	1	297_300	c.258_261delGCGC	c.(256-261)aafs	p.KR86fs		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	86					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ATTACAACAAGCGCTCCACCATCA	0.627													10	128	---	---	---	---					
RPS18	6222	broad.mit.edu	37	6	33240446	33240446	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:33240446delA	ENST00000439602.2	+	2	155	c.45delA	c.(43-45)gtfs	p.V15fs	RPS18_ENST00000474973.1_5'UTR|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	15					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						TTTTGCGAGTACTCAACACCA	0.423													7	189	---	---	---	---					
MDN1	23195	broad.mit.edu	37	6	90368042	90368043	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:90368042_90368043delCT	ENST00000369393.3	-	90	15183_15184	c.15068_15069delAG	c.(15067-15069)gfs	p.E5023fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.E5023fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5023					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTCCAAAGCCTCTGGCACCTG	0.559													12	215	---	---	---	---					
SLC35F1	222553	broad.mit.edu	37	6	118588185	118588186	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:118588185_118588186delGT	ENST00000360388.4	+	4	706_707	c.505_506delGT	c.(505-507)gfs	p.V169fs		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	169					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GATCCCAGTCGTGATTTTGCTC	0.495													100	1469	---	---	---	---					
SNX9	51429	broad.mit.edu	37	6	158317931	158317932	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:158317931_158317932insG	ENST00000392185.3	+	5	544_545	c.373_374insG	c.(373-375)gggfs	p.G125fs		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	125					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTCAGAAGGCTGGGGGGCCCAG	0.584													7	550	---	---	---	---					
PNLDC1	154197	broad.mit.edu	37	6	160227025	160227025	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr6:160227025delA	ENST00000275275.5	+	7	610	c.439delA	c.(439-441)aafs	p.K147fs	PNLDC1_ENST00000392167.3_Frame_Shift_Del_p.K158fs	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	147						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCTCCGGATAAAGACCAAAT	0.502													17	221	---	---	---	---					
ADAM7	8756	broad.mit.edu	37	8	24349468	24349469	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:24349468_24349469delCT	ENST00000175238.6	+	14	1492_1493	c.1409_1410delCT	c.(1408-1410)cfs	p.P470fs	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Frame_Shift_Del_p.P470fs|ADAM7_ENST00000520720.1_Frame_Shift_Del_p.P242fs	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	470	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGTGATTTTCCTGAGATGTGCA	0.450													21	85	---	---	---	---					
FAM135B	51059	broad.mit.edu	37	8	139164597	139164597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:139164597delC	ENST00000395297.1	-	13	2291	c.2121delG	c.(2119-2121)ttfs	p.L707fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	707										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCACTGGGCAACTCCAGAG	0.537										HNSCC(54;0.14)			17	129	---	---	---	---					
EPPK1	83481	broad.mit.edu	37	8	144940619	144940620	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr8:144940619_144940620insC	ENST00000525985.1	-	2	6873_6874	c.6802_6803insG	c.(6802-6804)cacfs	p.H2268fs				P58107	EPIPL_HUMAN	epiplakin 1	2268						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGCCGGTGGCCGCCTGCGCC	0.718													2	4	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)ccgtgafs	p.*130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525													7	301	---	---	---	---					
DNM1L	10059	broad.mit.edu	37	12	32873644	32873656	+	Frame_Shift_Del	DEL	CGTGATGAGTATG	CGTGATGAGTATG	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:32873644_32873656delCGTGATGAGTATG	ENST00000452533.2	+	8	951_963	c.787_799delCGTGATGAGTATG	c.(787-801)ctfs	p.RDEYA263fs	DNM1L_ENST00000414834.2_Frame_Shift_Del_p.RDEYA60fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.RDEYA276fs|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.RDEYA263fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.RDEYA276fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.RDEYA263fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.RDEYA276fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.RDEYA263fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	263	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.R263C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGATTCAATCCGTGATGAGTATGCTTTTCTTCA	0.357													32	134	---	---	---	---					
OTOGL	283310	broad.mit.edu	37	12	80712473	80712473	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr12:80712473delT	ENST00000458043.2	+	32	3761	c.3755delT	c.(3754-3756)ctfs	p.L1252fs	OTOGL_ENST00000547103.1_Frame_Shift_Del_p.L1252fs	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACTCCAGGCCTTTTCAAAGAG	0.333													2	4	---	---	---	---					
DAOA-AS1	282706	broad.mit.edu	37	13	106148111	106148114	+	RNA	DEL	CTTC	CTTC	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr13:106148111_106148114delCTTC	ENST00000448407.1	-	0	100					NR_040247.1																						GGATCTTTCTcttccttccttcct	0.353													5	6	---	---	---	---					
RP11-305B6.3	0	broad.mit.edu	37	14	44690451	44690452	+	RNA	INS	-	-	GAAGGAAG	rs139077890	by1000genomes	TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:44690451_44690452insGAAGGAAG	ENST00000553827.1	-	0	69																											aaggaaggaaggaaggaaagaa	0.406													2	4	---	---	---	---					
SEL1L	6400	broad.mit.edu	37	14	81945972	81945972	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr14:81945972delT	ENST00000336735.4	-	20	2275	c.2159delA	c.(2158-2160)tcfs	p.Y720fs		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	720	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTCCCGTATGTACTGCAAGAA	0.438													31	397	---	---	---	---					
ADAMTS7	11173	broad.mit.edu	37	15	79058183	79058184	+	Frame_Shift_Ins	INS	-	-	TGGGTCC			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr15:79058183_79058184insTGGGTCC	ENST00000388820.4	-	19	4279_4280	c.4069_4070insGGACCCA	c.(4069-4071)gggfs	p.-1357fs		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGCTGACCCTTGGGTCCTGGG	0.653													2	4	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38885396	38885397	+	Frame_Shift_Ins	INS	-	-	C	rs142553701	by1000genomes	TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr19:38885396_38885397insC	ENST00000587013.1	+	4	747_748	c.669_670insC	c.(667-672)acccccfs	p.TP223fs	SPRED3_ENST00000338502.4_Frame_Shift_Ins_p.TP179fs|SPRED3_ENST00000586301.1_Frame_Shift_Ins_p.TP179fs			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	179	KBD.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCGACCACGCCCCCCCAGCG	0.733													4	6	---	---	---	---					
ZNF343	79175	broad.mit.edu	37	20	2464776	2464777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr20:2464776_2464777insC	ENST00000278772.4	-	6	1317_1318	c.830_831insG	c.(829-831)attfs	p.I277fs	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TATCTTTAAAGCTTCGCCCACA	0.470													13	216	---	---	---	---					
LOC101929413	101929413	broad.mit.edu	37	20	10869748	10869748	+	RNA	DEL	T	T	-			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr20:10869748delT	ENST00000448859.1	-	0	1058				RP11-103J8.1_ENST00000605292.1_RNA																							TCtttttttattttttttttt	0.438													8	161	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50408833	50408834	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z053-01A-01W-0747-08	TCGA-17-Z053-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d422986-6e91-4299-b6cf-4076f3706c83	8902411b-6bff-49e8-8e1e-0370a773997a	g.chr20:50408833_50408834insG	ENST00000217086.4	-	2	299_300	c.188_189insC	c.(187-189)gaafs	p.E63fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.E63fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	63					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAGCCGCTTTACTGTGGCTTC	0.490													10	164	---	---	---	---